Pneumonia
Basic details
Preferred term: Pneumonia
Alt. terms: lung infection | lung inflammation | pulmonary infection
HPO term: Pneumonia
HPO code: HP:0002090
GenIA ID: 73
Last updated on: 2023-04-20 11:14:45
Cross ref. with other ontologies
NCIT: C3333
MESH: D011014
EFO:0003106
OAE: -
SNOMEDCT: -
ICD10: J18
Description
Inflammation of any part of the lung parenchyma in one or both lungs. It's usually caused by bacterial infection, however viral or fungal infection can also occur.
Hierarchical classification
PARENT terms
TERM
Pneumonia
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | -,- | German | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3] |
101017 | F | 210232 | 2,2 | German | Pneumonia,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F003:P003] | |
101019 | F | 210316 | 6 | German | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F004:P004] | |
101020 | F | 210008![]() |
28 | German | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F005:P005]; PMID:32278790 [Fam.AU:II.3(II.3)]; PMID:29403474 [Patient 28 (11)]; PMID:150198 [Fam.AM:II.4(157)]; PMID:27461466 [Fam.199_01:28] |
101021 | M | 210359 | 20,20 | German | Pneumonia,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F006:P006] | |
101022 | M | 210482 | 16 | German | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F007:P007] | |
101023 | M | 210731 | 51 | German | Lung disease | PMID:34975878 [Fam.F008:P008] | |
101024 | F | 210927 | 35,33 | Pneumonia,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F009:P009] | ||
101025 | M | 210937 | 43,43 | Pneumonia,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F010:P010] | ||
101026 | M | 210215 | 20 | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F011:P011] | ||
101027 | M | 211035 | 28,28 | Pneumonia,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F012:P012] | ||
101038 | F | 210182![]() |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.6(B.II.4)]; PMID:30250467 [B.II.4]; PMID:29729943 [Fam.B:II.6(B.II.4 (16))]; PMID:34975878 [Fam.F014:III.6(P015)]; PMID:27418640 [P14(5)] |
101043 | M | 210725![]() |
-,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101053 | F | 211287 | 28 | Lymphoid interstitial pneumonia | PMID:34975878 [Fam.F022:P022] | ||
101058 | M | 210120 | - | Pneumonia | Immunodeficiency 31C | PMID:34390440 [CMC21] | |
101061 | F | 211392 | 19 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F031:P031] | ||
101062 | M | 212603![]() |
2 | South Asian | Pneumonia | ARPC1B deficiency | PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)] |
101063 | M | 210118 | - | German | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F411:P411]; PMID:34390440 [CMC01] | |
101065 | F | 211364 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F033:P033] | |
101069 | F | 211370![]() |
- | Turkish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F039:P039]; PMID:32278790 [Fam.AJ:III.2(III.2)]; PMID:150198 [Fam.BZ:III.2(381)] |
101076 | F | 210226 | 9 | German | Pneumonia | PMID:34975878 [Fam.F041:P041] | |
101077 | F | 210211 | 15,- | German | Lung disease,Pneumonia | PMID:34975878 [Fam.F043:P043] | |
101079 | M | 211310 | - | Pneumonia | PMID:34975878 [Fam.F045:P045]; PMID:34390440 [NEG005] | ||
101080 | F | 211150 | 63 | Pneumonia | PMID:34975878 [Fam.F046:P046] | ||
101081 | F | 211315 | 22 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F047:P047] | ||
101082 | F | 211226 | - | (unusual) Respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
101083 | M | 210479 | 41 | German | Pneumonia | PMID:34975878 [Fam.F049:P049] | |
101084 | F | 211225 | - | Pneumonia | PMID:34975878 [Fam.F050:P050] | ||
101086 | M | 210934 | 40 | German | Pneumonia | PMID:34975878 [Fam.F052:P052] | |
101087 | M | 211335 | - | German | Pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F053:P053] |
101088 | M | 211560 | 38 | German | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F054:P054] | |
101090 | M | 211257 | 35,35 | Lymphoid interstitial pneumonia,Pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13] | |
101091 | M | 210911 | 13 | Pneumonia | DiGeorge syndrome | PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180] | |
101093 | M | 211289 | 22 | German | Pneumonia | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
101115 | F | 210778 | - | Caucasian | Pneumonia | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101116 | M | 210282![]() |
19,39 | German | (unusual) Respiratory tract infection,Pneumonia | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.A:II.2(P2)]; PMID:16384931 [Fam.A:II.3(P2)]; PMID:19426217 [Fam.A:II.2(P2)]; PMID:28861081 [Fam.1:II.2(P2)]; PMID:35486341 [P005] |
101118 | F | 210735 | 20 | Pneumonia | Thrombophilia due to Factor V Leiden | PMID:31057532 [Fam.C:II.1] | |
101119 | M | 210264 | 15 | Pneumonia | PMID:34975878 [Fam.F070:P070] | ||
101120 | M | 210221 | 43 | German | Pneumonia | PMID:34975878 [Fam.F071:P071] | |
101121 | M | 210784 | 42 | German | Pneumonia | PMID:34975878 [Fam.F072:P072] | |
101122 | M | 210197![]() |
- | Italian | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
101124 | F | 210216 | - | German | Pneumonia | PMID:34975878 [Fam.F075:P075] | |
101127 | F | 210318 | 21 | German | Pneumonia | PMID:34975878 [Fam.F077:P077] | |
101128 | M | 210897 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07] |
101129 | F | 210906 | 7 | German | Pneumonia | PMID:34975878 [Fam.F078:P078] | |
101131 | F | 210337 | 39,57 | German | Lymphoid interstitial pneumonia,Pneumonia | PMID:34975878 [Fam.F080:P080] | |
101132 | M | 210304 | 5 | German | Pneumonia | PMID:34975878 [Fam.F081:P081] | |
101133 | M | 210896 | 34,40 | Lymphoid interstitial pneumonia,Pneumonia | Immunodeficiency, common variable, 13 | PMID:34975878 [Fam.F082:P082] | |
101134 | F | 210901 | 37 | Pneumonia | PMID:34975878 [Fam.F083:P083] | ||
101143 | F | 211219 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F088:P088] | ||
101145 | M | 211221![]() |
-,- | German | Pneumonia,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.5(Pat4)]; PMID:150198 [Fam.DV:III.5(531)]; PMID:36105815 [Fam.Y350C:III.5(Y350C/4)] |
101153 | M | 210757 | - | German | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES55] |
101154 | F | 210005 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F097:P097] | ||
101155 | M | 210235 | -,- | German | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098] |
101160 | F | 211433 | - | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F101:P101] | |
101167 | M | 211470![]() |
28,- | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)] | |
101168 | M | 212349 | - | Pneumonia | PMID:34390440 [NEG015] | ||
101171 | M | 210012![]() |
1 | Dutch | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 20 | PMID:25926555 [Patient(II.1)] |
101172 | F | 212371 | 58 | Pneumonia | PMID:34390440 [NEG017] | ||
101174 | M | 210012![]() |
- | Dutch | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 20 | PMID:25926555 [Fam.Patient:I.1(father)] |
101178 | M | 210542 | 17 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F114:P114] | ||
101183 | F | 210282![]() |
27,27 | German | (unusual) Respiratory tract infection,Pneumonia | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.A:II.1(P1)]; PMID:16384931 [Fam.A:II.2(P1)]; PMID:19426217 [Fam.A:II.1(P1)]; PMID:28861081 [Fam.1:II.1(P1)] |
101190 | F | 212374 | - | Pneumonia | PMID:34390440 [NEG020] | ||
101192 | M | 212376 | - | Pneumonia | PMID:34390440 [NEG021] | ||
101194 | M | 212378 | - | Egyptian | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES49] |
101195 | F | 212379 | - | Egyptian | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES19] |
101199 | F | 211483 | - | German | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101201 | F | 211487 | - | Pneumonia | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:II.3(P123)]; PMID:30941118 [Fam.1404:II.3(Pt#22)] | |
101203 | M | 211488 | 36 | Pneumonia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F125:P125] | |
101204 | M | 211492 | - | German | Pneumonia | PMID:34975878 [Fam.F126:P126] | |
101207 | F | 211502 | 43 | Pneumonia | PMID:34975878 [Fam.F130:P130] | ||
101213 | M | 210014![]() |
6 | German | Pneumonia | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.B:II.1(P3)]; PMID:16384931 [Fam.B:II.2(P3)]; PMID:19426217 [Fam.B:II.2(P3)]; PMID:28861081 [Fam.2:II.1(P3)] |
101214 | M | 210014![]() |
19,12 | German | (unusual) Respiratory tract infection,Pneumonia | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.B:II.2(P4)]; PMID:16384931 [Fam.B:II.3(P4)]; PMID:19426217 [Fam.B:II.3(P4)]; PMID:28861081 [Fam.2:II.2(P4)] |
101224 | F | 210016 | 8 | Austrian | Pneumonia | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.D:II.1(II.1)]; PMID:16384931 [Fam.D:II.1(P7)]; PMID:19426217 [Fam.D:II.1(P7)]; PMID:28861081 [Fam.4:II.1(P7)] |
101235 | M | 210135 | 6,6,5 | Arab | Lung disease,Lymphoid interstitial pneumonia,Pneumonia | PMID:22608502 [Fam.A:I.1] | |
101260 | M | 212144 | -,2 | Iranian | Pneumonia,Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
101268 | F | 212145 | 15 | Iranian | Pneumonia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16] |
101286 | F | 212146 | 4 | Saudi | Pneumonia | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.3]; PMID:25468195 [Fam.C:II.3(P4)]; PMID:26707784 [P8] |
101296 | M | 210135 | 6,5,6 | Arab | Lung disease,Lymphoid interstitial pneumonia,Pneumonia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.3(P1)]; PMID:26707784 [P1] |
101312 | M | 212149 | -,11 | Lebanese | Lung disease,Pneumonia | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.1(P2)]; PMID:26707784 [P16] |
101336 | M | 212152 | - | Omani | Lymphoid interstitial pneumonia | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
101343 | M | 210134 | -,-,- | Italian | (unusual) Respiratory tract infection,Lymphoid interstitial pneumonia,Pneumonia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3] |
101351 | M | 212155 | - | Egyptian | Pneumonia | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.6:II.3] |
101356 | F | 210135 | -,10 | Arab | Lung disease,Pneumonia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2] |
101359 | F | 212157 | - | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.8:II.1] |
101364 | F | 212159 | - | North American | Pneumonia | Immunodeficiency, common variable, 8 | PMID:27379089 [P13] |
101369 | M | 212161 | - | Turkish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:30479781 [P1(V.1)] |
101371 | M | 212161 | -,- | Turkish | (unusual) Respiratory tract infection,Lymphoid interstitial pneumonia | Immunodeficiency, common variable, 8 | PMID:30479781 [Fam.P1:V.2(P2)] |
101375 | F | 212162 | 3 | Iranian | Pneumonia | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8] |
101379 | M | 212163 | 3 | Iranian | Pneumonia | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10] |
101382 | M | 210641 | 27 | German | Pneumonia | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.3(II.3)]; PMID:16384931 [Fam.C:II.3(P5)]; PMID:19426217 [Fam.C:II.3(P5)]; PMID:28861081 [Fam.3:II.3(P5)] |
101384 | M | 210217 | -,25 | German | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:34975878 [Fam.F134:P134]; PMID:32278790 [BN.I.1]; PMID:150198 [Fam.CZ:445]; PMID:36105815 [Y90S] |
101399 | F | 210189![]() |
17 | German | Pneumonia | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
101401 | F | 210205![]() |
-,22,- | Caucasian | Bronchopneumonia,Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.17(A.II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)] |
101402 | M | 210690 | - | German | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F138:P138] |
101403 | M | 210189![]() |
-,- | German | Pneumonia,Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
101410 | F | 210902 | 45,- | German | Pneumonia,Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F141:P141]; PMID:28493328 [P4] |
101421 | F | 212170 | 3 | Iranian | Pneumonia | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
101424 | M | 212172 | 2 | Iranian | Pneumonia | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 6]; PMID:26707784 [Fam.D:IV.1(P27)]; PMID:26993986 [F8]; PMID:28512785 [P13] |
101425 | M | 210205![]() |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.8(A.II.5)]; PMID:29729943 [Fam.A:II.8(A.II.5 (4))]; PMID:27418640 [P7(5)] |
101433 | M | 210233 | 14 | German | Pneumonia | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F143:P143] |
101443 | M | 212175 | -,- | North American | Lung disease,Pneumonia | Immunodeficiency, common variable, 8 | PMID:26206937 [P7] |
101448 | M | 210496 | - | Pneumonia | PMID:34975878 [Fam.F148:P148] | ||
101452 | M | 212394 | -,- | Iranian | Pneumonia,Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33] |
101458 | F | 210656![]() |
-,- | Georgian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [Fam.E:II.3(E.II.3 (23))]; PMID:27418640 [P19(5)] |
101461 | M | 210929 | - | German | Pneumonia | NFKB1 insufficiency | PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27] |
101462 | M | 210006 | 32 | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F154:P154] | |
101469 | F | 210220![]() |
-,21 | German | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)] |
101473 | F | 212398 | 1 | Spanish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:30386343 [Patient(II.1)] |
101477 | M | 212400 | - | Iranian | Pneumonia | Netherton syndrome | PMID:34390440 [HIES31] |
101479 | F | 210314![]() |
-,- | German | Lung disease,Pneumonia | NFKB1 insufficiency | PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)] |
101480 | U | 212454 | - | Italian | Pneumonia | Severe combined immunodeficiency 9A, T-B- | PMID:11133745 [P23] |
101488 | M | 210401![]() |
42,- | German | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
101490 | M | 211009 | - | Pneumonia | PMID:34975878 [Fam.F164:P164] | ||
101495 | M | 212458 | - | Taiwanese | Pneumonia | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
101514 | M | 210220![]() |
- | German | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.089:I.1(I.1)]; PMID:26279205 [Fam.089:I.1(I1)]; PMID:29403474 [Fam.089 (5):I.1(I1)]; PMID:150198 [Fam.AB:III.3(093)]; PMID:27461466 [Fam.089:I.1(24)] |
101527 | M | 210728 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F175:P175] | ||
101529 | M | 211278 | 8 | Pneumonia | PMID:34975878 [Fam.F176:P176] | ||
101537 | M | 210949 | 43 | Pneumonia | PMID:34975878 [Fam.F178:P178] | ||
101543 | F | 210011 | 5 | Pneumonia | PMID:34975878 [Fam.F179:P179] | ||
101553 | M | 210256 | - | German | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
101566 | F | 210575![]() |
- | German | (unusual) Respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN94]; PMID:18835223 [UPN94]; GRID:000796 [UPN94(II.1)] |
101569 | F | 210220![]() |
- | German | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F192:P192]; PMID:32278790 [AH.I.1]; PMID:150198 [Fam.AB:IV.3(097)]; PMID:31857261 [Patient 5]; GRID:001142 [FR023] |
101570 | M | 212597 | - | German | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES45] |
101572 | M | 212598 | - | Turkish | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES46] |
101575 | M | 210900 | -,- | German | (unusual) Respiratory tract infection,Pneumonia | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2] |
101576 | M | 212599 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES47] | |
101577 | M | 212600 | - | Pneumonia | Immunodeficiency 31C | PMID:34390440 [CMC12] | |
101578 | M | 210205![]() |
-,- | German | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)] |
101580 | M | 212601 | - | Iranian | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES17] |
101582 | F | 212602 | - | Pneumonia | PMID:34390440 [NEG025] | ||
101591 | M | 212604![]() |
2 | Scottish | Pneumonia | ARPC1B deficiency | PMID:28368018 [Fam.2:II.2(P3)]; PMID:30771411 [Fam.P10:II.2(P11)]; PMID:34673575 [Fam.2:II.2(P3)] |
101592 | M | 212605![]() |
- | Moroccan | Pneumonia | ARPC1B deficiency | PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient] |
101596 | M | 212618![]() |
1 | Jewish | Recurrent lower respiratory tract infections | ARPC1B deficiency | PMID:29127144 [P1(II.1)] |
101597 | M | 212618![]() |
0 | Jewish | Pneumonia | ARPC1B deficiency | PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6] |
101601 | M | 212619![]() |
1 | Italian | Pneumonia | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101617 | M | 210994 | 53 | Pneumonia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F212:P212] | |
101620 | M | 211003 | 10 | Pneumonia | PMID:34975878 [Fam.F214:P214] | ||
101624 | M | 210946 | 49 | Pneumonia | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F215:P215] | |
101628 | F | 210955 | 17,18 | Caucasian | Lung disease,Pneumocystis jiroveci pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:I.2(128)]; PMID:34975878 [Fam.F217:P217] |
101630 | M | 211089![]() |
- | German | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:34975878 [Fam.F219:P219]; PMID:34975878 [Fam.F219:P219]; PMID:32278790 [BR.I.1]; PMID:32278790 [BR.I.1]; PMID:150198 [Fam.DC:II.2(453)]; PMID:150198 [Fam.DC:II.2(453)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)] |
101633 | M | 210945 | -,- | Bronchopneumonia,Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F220:P220]; PMID:30941118 [Fam.846:II.1(Pt#49)] | |
101635 | F | 211154 | - | German | Recurrent lower respiratory tract infections | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
101651 | M | 210939 | 21 | Bronchopneumonia | PMID:34975878 [Fam.F226:P226] | ||
101655 | F | 212630![]() |
- | Somali | Pneumonia | ARPC1B deficiency | PMID:30771411 [P5(II.2)]; PMID:35767111 [P3] |
101667 | M | 212631![]() |
0 | Moroccan | Pneumonia | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
101669 | M | 211549 | 20 | Pneumonia | PMID:34975878 [Fam.F234:P234] | ||
101671 | F | 212632![]() |
- | Iranian | Pneumonia | ARPC1B deficiency | PMID:30771411 [P7(IV.8)]; PMID:31710310 [Patient 2] |
101673 | M | 211156 | -,- | Pneumonia,Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
101674 | F | 212632![]() |
- | Iranian | Pneumonia | ARPC1B deficiency | PMID:30771411 [Fam.P7:V.1(P8)] |
101697 | F | 211447 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F243:P243] | ||
101710 | F | 210771 | - | Pneumonia | PMID:34975878 [Fam.F247:P247] | ||
101711 | M | 210925![]() |
- | Turkish | Pneumonia | NFKB1 insufficiency | PMID:34975878 [Fam.F412:P412]; PMID:32278790 [Fam.BT:II.1(II.1)]; PMID:150198 [Fam.DE:II.1(460)]; PMID:36105815 [Fam.R230K:II.1(R230K/2)] |
101713 | F | 212643 | - | Jordanian | (unusual) Respiratory tract infection | Agammaglobulinemia 4 | PMID:25893637 [Fam.P1:II.5(P2)] |
101717 | F | 210260![]() |
-,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)] |
101720 | F | 210022 | - | Iranian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.2(P5)]; PMID:25539626 [P1(II.1)]; PMID:26707784 [P12] |
101722 | F | 210261![]() |
- | Asian | Pneumocystis jiroveci pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.D:II.1(D.II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)] |
101731 | M | 210300![]() |
4 | North American | Pneumonia | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.3(P2)] |
101736 | M | 210300![]() |
- | North American | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.9(P6)] |
101737 | M | 210300![]() |
- | North American | Pneumonia | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.10(P7)] |
101738 | M | 210300![]() |
- | North American | Pneumonia | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.11(P8)] |
101740 | M | 210300![]() |
4 | North American | Pneumonia | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.13(P9)] |
101741 | F | 210300![]() |
1 | North American | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.14(P10)] |
101744 | F | 210182![]() |
-,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.2(B.III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)] |
101754 | M | 210024 | - | Japanese | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.2(P11)] |
101755 | M | 210025 | 7,- | North American | (unusual) Respiratory tract infection,Pneumonia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
101756 | F | 210025 | 5 | North American | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)] |
101757 | M | 210026 | 11 | North American | Pneumonia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.605:P14]; PMID:26206937 [P3] |
101759 | F | 210028 | 12 | North American | Pneumonia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.607:P16]; PMID:26206937 [P4] |
101767 | F | 210788 | 41 | Pneumonia | PMID:34975878 [Fam.F249:P249] | ||
101768 | M | 210789 | - | Pneumonia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
101773 | M | 210876![]() |
-,- | German | Pneumonia,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:34975878 [Fam.F413:P413]; PMID:32278790 [Fam.BK:II.1(II.1)]; PMID:150198 [Fam.CC:II.1(405)]; PMID:36105815 [R57C/1] |
101775 | M | 210908![]() |
-,6 | Argentinian | Pneumonia,Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101776 | M | 210912 | 15,- | Pneumonia,Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F251:P251] | |
101777 | F | 210920 | - | Libyan | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:26745254 [P1(II.1)] |
101790 | M | 210960 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F254:P254] | ||
101792 | M | 210991 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9(92))] |
101793 | M | 211028 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F256:P256] | ||
101794 | F | 211030 | - | Italian | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
101795 | M | 211075 | 2 | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 10 | PMID:30941118 [Fam.981:II.5(Pt#28)] | |
101797 | M | 211108 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
101798 | M | 211117 | - | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P11] | |
101799 | M | 211120 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)] |
101800 | M | 215769![]() |
-,17 | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:34975878 [Fam.F259:P259]; PMID:32278790 [Fam.AT:III.2(III.2)]; PMID:150198 [Fam.BT:IV.1(319)]; PMID:31803180 [Fam.C:III.1(III.1)] |
101801 | M | 211151 | 7,- | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
101803 | F | 211221![]() |
60,60 | German | Pneumonia,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:33995346 [Fam.A:II.2(Pat1)]; PMID:150198 [Fam.DV:II.2(521)]; PMID:36105815 [Fam.Y350C:II.2(Y350C/1)] |
101804 | M | 211221![]() |
2 | German | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:33995346 [Fam.A:IV.1(Pat3)]; PMID:150198 [Fam.DV:IV.1(533)]; PMID:36105815 [Fam.Y350C:IV.1(Y350C/3)] |
101808 | F | 211441 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F265:P265] | |
101810 | F | 211516 | 24 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F268:P268] | ||
101819 | F | 211386 | - | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:31057532 [Fam.F:I.2] | |
101827 | M | 211564 | 25 | Pneumonia | PMID:34975878 [Fam.F291:P291] | ||
101829 | M | 211577 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F293:P293] | ||
101833 | M | 210887 | -,- | Pneumonia,Recurrent lower respiratory tract infections | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
101834 | M | 212351 | - | German | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES41] |
101836 | M | 212346 | - | Pneumonia | PMID:34390440 [NEG029] | ||
101845 | M | 210125 | - | German | Pneumonia | PMID:34390440 [NEG031] | |
101849 | F | 211636 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F311:P311] | |
101850 | M | 212198 | - | Pneumonia | PMID:34390440 [NEG032] | ||
101856 | F | 211487 | 0 | Pneumonia | Immunodeficiency, common variable, 10 | PMID:30941118 [Fam.1404:III.2(Pt#24)] | |
101866 | M | 210070 | - | Pneumonia | PMID:34390440 [NEG039] | ||
101869 | M | 210076 | - | Pneumonia | Immunodeficiency 31C | PMID:34390440 [CMC08] | |
101880 | M | 212295 | - | Pneumonia | PMID:34390440 [NEG047] | ||
101882 | M | 211763 | - | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F325:P325] | ||
101884 | M | 212237![]() |
-,- | Sudanese | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
101895 | M | 212286 | - | Pneumonia | PMID:34390440 [NEG050] | ||
101896 | F | 212289 | - | Pneumonia | PMID:34390440 [NEG051] | ||
101898 | F | 212307 | - | Pneumonia | PMID:34390440 [NEG052] | ||
101902 | M | 211775 | - | Pneumonia | PMID:34975878 [Fam.F333:P333] | ||
101907 | F | 212325 | - | Pneumonia | PMID:34390440 [NEG056] | ||
101908 | M | 212335 | - | Turkish | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES42] |
101909 | M | 211796 | - | Pneumonia | PMID:34975878 [Fam.F336:P336] | ||
101911 | F | 211833 | -,- | (unusual) Respiratory tract infection,Pneumonia | PMID:34975878 [Fam.F337:P337] | ||
101915 | F | 211935 | -,- | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] | |
101922 | F | 211937 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F342:P342] | ||
101927 | M | 210097 | - | Pneumonia | Immunodeficiency 31C | PMID:34390440 [CMC10] | |
101958 | F | 212666 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES40] | |
101959 | M | 210641 | 12 | German | Pneumonia | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.4(II.4)]; PMID:16384931 [Fam.C:II.4(P6)]; PMID:19426217 [Fam.C:II.4(P6)]; PMID:28861081 [Fam.3:II.4(P6)] |
101961 | M | 212237![]() |
-,- | Sudanese | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.1(A.II.1)] |
101962 | M | 212237![]() |
-,- | Sudanese | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.2(A.II.2)] |
101963 | F | 213965 | - | Pneumonia | PMID:34390440 [NEG078] | ||
101970 | F | 214044 | - | Pneumonia | PMID:34390440 [NEG085] | ||
101971 | F | 214045 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES43] | |
101973 | F | 214053![]() |
-,- | Turkish | (unusual) Respiratory tract infection,Pneumonia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.6(D.II.4)]; PMID:34390440 [HIES52] |
101975 | F | 214053![]() |
-,- | Turkish | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
101984 | F | 214091 | - | Pneumonia | PMID:34390440 [NEG091] | ||
101985 | F | 214094 | - | Pneumonia | PMID:34390440 [NEG092] | ||
101986 | M | 214100 | - | Egyptian | Pneumonia | PMID:34390440 [NEG093] | |
101992 | F | 214128 | - | Pneumonia | PMID:34390440 [NEG098] | ||
101993 | F | 214132 | - | Pneumonia | PMID:34390440 [NEG099] | ||
101996 | M | 214139 | - | Pneumonia | PMID:34390440 [NEG102] | ||
101997 | F | 214140 | - | Pneumonia | PMID:34390440 [NEG103] | ||
101998 | M | 214141 | - | Pneumonia | PMID:34390440 [NEG104] | ||
101999 | F | 214143 | - | Moroccan | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES38] |
102002 | F | 214149 | - | Pneumonia | PMID:34390440 [NEG107] | ||
102004 | F | 214153 | - | Moroccan | Pneumonia | PMID:34390440 [HIES01] | |
102005 | F | 214160 | - | Moroccan | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES39] |
102008 | M | 214164 | - | Peruvian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES36] |
102013 | F | 214190 | - | Pneumonia | PMID:34390440 [NEG115] | ||
102014 | F | 214191 | - | Pneumonia | PMID:34390440 [NEG116] | ||
102023 | F | 214205 | - | Pneumonia | PMID:34390440 [NEG125] | ||
102025 | M | 214207 | - | Pneumonia | PMID:34390440 [NEG127] | ||
102026 | F | 214214 | - | Iranian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES35] |
102027 | M | 214215 | - | Pneumonia | PMID:34390440 [NEG128] | ||
102029 | M | 214219 | - | Pneumonia | PMID:34390440 [NEG130] | ||
102030 | M | 214220 | - | Pneumonia | PMID:34390440 [NEG131] | ||
102031 | M | 214221 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES07] | |
102032 | M | 214223 | - | Pneumonia | PMID:34390440 [NEG132] | ||
102033 | M | 214226 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES33] | |
102034 | M | 214227 | - | Pneumonia | PMID:34390440 [NEG133] | ||
102035 | M | 214232 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES34] | |
102047 | M | 214258 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES13] | |
102055 | F | 214273 | - | Iranian | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES22] |
102057 | M | 214275 | - | Iranian | (unusual) Respiratory tract infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES25] |
102065 | M | 214285 | - | Egyptian | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES23] |
102067 | M | 214287 | - | Colombian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES44] |
102074 | F | 214294 | - | Egyptian | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES27]; PMID:32738296 [P2] |
102077 | F | 214297 | - | Egyptian | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES10] |
102078 | M | 214298 | - | Egyptian | Pneumonia | PMID:34390440 [NEG164] | |
102079 | M | 214299 | - | Egyptian | Pneumonia | PMID:34390440 [NEG165] | |
102080 | M | 214300 | - | Egyptian | Pneumonia | PMID:34390440 [NEG166] | |
102081 | M | 214301 | - | Egyptian | Pneumonia | PMID:34390440 [NEG167] | |
102082 | U | 214302 | - | Egyptian | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES11] |
102083 | F | 214302 | - | Egyptian | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [NEG168] |
102084 | M | 214303 | - | Egyptian | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES02] |
102092 | F | 214311 | - | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES48] | |
102099 | M | 214318 | - | Pneumonia | PMID:34390440 [NEG180] | ||
102105 | M | 214325 | - | Pneumonia | PMID:34390440 [NEG185] | ||
102107 | M | 214329 | -,- | Portuguese | (unusual) Respiratory tract infection,Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES26] |
102116 | M | 212357 | - | Egyptian | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES05] |
102117 | F | 214341 | - | Egyptian | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES20] |
102118 | M | 214342 | - | Pneumonia | PMID:34390440 [NEG195] | ||
102120 | M | 214344 | - | Egyptian | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES21] |
102123 | M | 214347 | -,- | Macedonian | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES50] |
102131 | F | 214351![]() |
1,1 | Sudanese | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.7(B.II.6)] |
102141 | F | 214393![]() |
- | North American | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 14 | PMID:27016798 [Patient(III.1)]; PMID:37876937 [Fam.A:III.1(A.1)] |
102157 | F | 214681 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
102174 | M | 210182![]() |
- | Caucasian | Pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:I.1(B.I.1)]; PMID:29729943 [Fam.B:I.1(B.I.1 (12))] |
102181 | F | 214913 | 3 | Pneumonia | Severe combined immunodeficiency 9A, T-B- | PMID:30877075 [Case 22]; PMID:28864286 [P1]; PMID:28769923 [P34] | |
102182 | F | 214681 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:III.1(46)] |
102216 | F | 214916![]() |
7 | Belgian | Pneumonia | Severe congenital neutropenia 11 | PMID:32325141 [Patient(II.1)] |
102222 | M | 214917 | 28,34 | German | Pneumonia,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102224 | F | 214919 | 37 | German | Pneumonia | DiGeorge syndrome | PMID:35486341 [P017] |
102225 | M | 214920 | - | Romanian | Lung disease | Immunodeficiency 40 | PMID:35486341 [P063] |
102239 | F | 214923![]() |
- | Brasilian | Pneumonia | ARPC1B deficiency | GRID:000604 [case(II.2)]; PMID:37349293 [Fam.B:II.1(Patient)] |
102245 | M | 214924![]() |
- | Afghanistani | Pneumonia | ARPC1B deficiency | PMID:33679784 [Fam.II-6:II.1(II-1)] |
102250 | M | 214924![]() |
1,1 | Afghanistani | Pneumonia,Recurrent lower respiratory tract infections | ARPC1B deficiency | PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7] |
102258 | M | 214926![]() |
1 | Mexican | Pneumonia | ARPC1B deficiency | PMID:32683750 [case(II.3)]; PMID:36708766 [Fam.A:II.3(P2)] |
102260 | F | 214926![]() |
1 | Mexican | Pneumonia | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
102269 | M | 214928![]() |
0 | Japanese | Pneumonia | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.3] |
102270 | F | 214928![]() |
- | Japanese | Pneumonia | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
102274 | F | 214929![]() |
- | German | Bronchopneumonia | OAS1 immunodeficiency | PMID:34145065 [P1(II.2)] |
102277 | M | 214930![]() |
-,- | North American | Bronchopneumonia,Pneumonia | OAS1 immunodeficiency | PMID:34145065 [P2(II.1)] |
102281 | M | 214931![]() |
- | North American | Bronchopneumonia | OAS1 immunodeficiency | PMID:34145065 [P3(II.2)] |
102285 | F | 214932![]() |
- | North American | Bronchopneumonia | OAS1 immunodeficiency | PMID:34145065 [P4(II.2)] |
102357 | M | 214937![]() |
- | German | Pneumonia | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.A:II.1(P1)] |
102374 | M | 214944![]() |
- | Saudi | (unusual) Respiratory tract infection | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.I(P7)] |
102396 | F | 214944![]() |
- | Saudi | (unusual) Respiratory tract infection | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.4(P5)] |
102397 | F | 214944![]() |
-,1 | Saudi | (unusual) Respiratory tract infection,Pneumonia | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.5(P6)] |
102398 | F | 214944![]() |
- | Saudi | (unusual) Respiratory tract infection | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.2(P4)] |
102410 | F | 214947![]() |
1,1 | South Asian | (unusual) Respiratory tract infection,Pneumonia | Hyper-IgE recurrent infection syndrome 4B | PMID:28747427 [Fam.A:II.3(P1)] |
102421 | M | 214949![]() |
13,0 | French | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.1(P3)] |
102423 | M | 214949![]() |
- | French/Greek | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:I.2(P1)] |
102426 | F | 214949![]() |
9 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.2(P4)] |
102427 | M | 214950![]() |
10,- | French | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.B:II.3(P5)] |
102433 | M | 214951![]() |
- | Irish Traveller | (unusual) Respiratory tract infection | Immunodeficiency 54 | PMID:22354167 [Fam.B:II.1(P2.1)] |
102436 | F | 214956![]() |
- | Bulgarian | Pneumonia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:III.1(P7)] |
102439 | M | 214956![]() |
-,- | Bulgarian | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
102444 | M | 214957![]() |
-,0 | Slovak | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
102449 | F | 214958![]() |
-,0 | Mexican/Salvadoran | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
102453 | F | 214959![]() |
8,- | Turkish | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.F:II.2(P10)] |
102460 | M | 214960![]() |
-,9 | European | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.G:II.1(P11)] |
102463 | M | 214961![]() |
-,- | European | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.H:II.1(P12)] |
102466 | M | 214962![]() |
0 | Polish | Pneumonia | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
102474 | M | 214963![]() |
1 | Admixed | Pneumonia | Hyper-IgE recurrent infection syndrome 4B | PMID:33771552 [Patient(II.1)] |
102477 | M | 214964![]() |
- | Turkish | Pneumonia | Hyper-IgE recurrent infection syndrome 4B | PMID:30309848 [Patient(III.5)] |
102507 | F | 214948![]() |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.9(P2)]; PMID:22354167 [Fam.A:IV.10(P1.2)] |
102509 | M | 214948![]() |
- | Irish Traveller | (unusual) Respiratory tract infection | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)] |
102511 | M | 214948![]() |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.14(P4)]; PMID:22354167 [Fam.A:IV.14(P1.4)] |
102512 | F | 214948![]() |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.15]; PMID:22354167 [Fam.A:IV.15(P1.5)] |
102530 | M | 214966![]() |
- | Japanese | (unusual) Respiratory tract infection | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
102630 | M | 214970![]() |
1 | European | Pneumonia | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
102654 | F | 214978![]() |
1 | North American | Pneumonia | Immunodeficiency 8 | PMID:19097825 [Patient(II.2)]; PMID:18836449 [Patient(II.2)] |
102659 | F | 214979![]() |
0 | Moroccan | (unusual) Respiratory tract infection | Immunodeficiency 8 | PMID:23522482 [P3(V.3)] |
102660 | M | 214979![]() |
1 | Moroccan | (unusual) Respiratory tract infection | Immunodeficiency 8 | PMID:23522482 [Fam.P3:V.1(P1)] |
102677 | M | 214980![]() |
1 | Pakistani | Recurrent lower respiratory tract infections | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
102775 | F | 214986![]() |
-,- | Afro-Caribbean | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.B:II.5(P4)] |
102786 | F | 214988![]() |
- | Turkish | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
102792 | M | 214989![]() |
-,- | Turkish | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.E:II.1(P7)] |
102796 | M | 214990![]() |
- | Lebanese | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.F:II.5(P8)] |
102804 | M | 214991![]() |
7 | North American | (unusual) Respiratory tract infection | Immunodeficiency 8 | PMID:25073507 [Fam.P1:II.1(P2)] |
102815 | M | 214994 | - | Recurrent lower respiratory tract infections | Immunodeficiency 8 | PMID:34913575 [Patient] | |
102819 | M | 214995 | 0 | (unusual) Respiratory tract infection | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency | PMID:14523047 [Patient(II.1)] | |
102871 | F | 215001![]() |
- | Italian | Pneumonia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:8911612 [A.D.]; PMID:10206641 [Patient(II.2)]; PMID:33464451 [P1(II.2)]; PMID:28077132 [Fam.1:II.2(P1)] |
102875 | F | 215001![]() |
- | Italian | Pneumonia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:8911612 [G.D.]; PMID:10206641 [Fam.Patient:II.3]; PMID:33464451 [Fam.P1:II.3(P2)]; PMID:28077132 [Fam.1:II.3(P2)]; PMID:11159512 [Patient] |
102881 | F | 215003![]() |
-,1 | Portuguese | Pneumocystis jiroveci pneumonia,Pneumonia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.1:II.1(P1)]; PMID:33464451 [P3]; PMID:28077132 [P7]; PMID:22590644 [Patient(II.1)] |
102884 | M | 215004![]() |
- | Admixed | Pneumonia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.2:II.1(P2)]; PMID:33464451 [P4]; PMID:22721479 [Patient]; PMID:28077132 [P8] |
102891 | F | 215006![]() |
- | Indian | Pneumonia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6] |
102897 | M | 215007![]() |
0 | Turkish | Pneumonia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)] |
102900 | F | 215007![]() |
-,- | Turkish | Pneumonia,Recurrent lower respiratory tract infections | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [Fam.P1:II.2(P2)]; PMID:33464451 [Fam.P12:II.2(P13)]; PMID:37419334 [P13(27)] |
102913 | M | 215014 | 0 | (unusual) Respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P3] | |
102919 | F | 215020 | - | Pneumonia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P8(II.1)]; PMID:37419334 [P8(22)] | |
102925 | M | 215026 | - | Pneumonia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P14]; PMID:37419334 [P14(22)] | |
102933 | M | 215034 | - | Pneumonia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P22]; PMID:37419334 [P22(22)] | |
102934 | F | 215035![]() |
- | Caucasian | Pneumonia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P23]; PMID:33464451 [P14(III.1)]; PMID:37419334 [P23(22)] |
102935 | M | 215035![]() |
- | Caucasian | Pneumonia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P24]; PMID:33464451 [Fam.P14:III.2(P15)]; PMID:37419334 [P15(27)] |
102937 | F | 215038 | - | Pneumonia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P26] | |
102958 | F | 215020 | - | (unusual) Respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [Fam.P8:I.1(P30)] | |
102984 | F | 215074![]() |
-,9 | European/American | (unusual) Respiratory tract infection,Lymphoid interstitial pneumonia | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
102990 | F | 215076![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 1] | |
102993 | F | 215077![]() |
- | Turkish | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 2] |
102999 | M | 215079![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 4] | |
103002 | F | 215080![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 5] | |
103009 | F | 215082![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 6] | |
103012 | M | 215083![]() |
- | Turkish | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 7] |
103015 | M | 215084![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 8] | |
103018 | M | 215085![]() |
- | Japanese | Pneumonia | Immunodeficiency 35 | PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient] |
103021 | F | 215086![]() |
- | Gypsy | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.1:II.2(C1)] |
103025 | M | 215086![]() |
- | Gypsy | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.1:III.1(C2)] |
103026 | M | 215086![]() |
- | Gypsy | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.1:III.2(C3)] |
103027 | F | 215087![]() |
- | Hungarian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN133]; PMID:18706697 [Fam.2:I.2(N1)] |
103029 | F | 215087![]() |
- | Hungarian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.2:II.1(N2)] |
103031 | M | 215088 | - | Hungarian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN134]; PMID:18706697 [Fam.3:K] |
103032 | M | 215089![]() |
- | Hungarian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.4:II.1(S1)] |
103038 | F | 215091 | - | Lebanese | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.6:F1] |
103039 | M | 215092![]() |
- | Lebanese | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.7:II.1(CA1)] |
103043 | F | 215093 | - | Polish | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.8:B] |
103044 | M | 215094 | - | Swedish | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.9:SW] |
103051 | M | 215095![]() |
- | Finnish | Recurrent lower respiratory tract infections | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
103061 | M | 215095![]() |
- | Finnish | (unusual) Respiratory tract infection | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.9(P2)] |
103072 | F | 215098![]() |
29 | Finnish | Pneumonia | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F4:II.1(P5)] |
103113 | M | 215100![]() |
1 | Iranian | Pneumonia | Seizures, cortical blindness, microcephaly syndrome | PMID:36212620 [Patient(II.1)] |
103128 | F | 215101![]() |
18 | Saudi | Recurrent lower respiratory tract infections | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.5] |
103132 | M | 215102![]() |
- | Emirati | (unusual) Respiratory tract infection | Seizures, cortical blindness, microcephaly syndrome | PMID:26463574 [Fam.MC36500:IV.6(IV.3)] |
103152 | F | 215104![]() |
13 | Omani | Pneumonia | Seizures, cortical blindness, microcephaly syndrome | PMID:26463574 [Fam.MC2500:IV.9(MC2501)] |
103281 | F | 215111![]() |
0 | Chinese (China) | Pneumonia | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
103292 | F | 215114 | - | German | Pneumonia | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
103448 | F | 215129![]() |
- | Saudi | Recurrent lower respiratory tract infections | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.1:II.2(P1)] |
103473 | F | 215134![]() |
-,1 | French | Pneumonia,Recurrent lower respiratory tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
103477 | F | 215134![]() |
- | French | Recurrent lower respiratory tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.3(P2)]; PMID:14702466 [Fam.1:II.3(P2)] |
103478 | M | 215135![]() |
- | French | Recurrent lower respiratory tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
103482 | F | 215136![]() |
- | British | Recurrent lower respiratory tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.C:II.1(P4)] |
103485 | F | 215137![]() |
13,- | French | Pneumonia,Recurrent lower respiratory tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103529 | F | 215153![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J001:I.1(Proband)]; PMID:21288777 [Fam.1:I.2(Proband)] |
103531 | F | 215153![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J001:II.1(Daughter1)]; PMID:21288777 [Fam.1:II.1(Daughter)] |
103541 | M | 215155![]() |
-,- | Mexican | Bronchopneumonia,Pneumonia | ARPC1B deficiency | PMID:36708766 [Fam.B:II.1(P4)] |
103547 | M | 215157![]() |
- | Mexican | Pneumonia | ARPC1B deficiency | PMID:36708766 [Fam.D:II.4(P6)] |
103556 | F | 215158![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:III.1(Daughter)]; PMID:21288777 [Fam.2:III.1(Daughter)] |
103560 | M | 215158![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:II.2(Proband)]; PMID:21288777 [Fam.2:II.2(Proband)]; PMID:23584561 [T3-2] |
103566 | F | 215160 | - | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J006:Proband]; PMID:28587312 [P14]; PMID:21288777 [F384S]; PMID:23584561 [T2-2] |
103567 | F | 215161![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:III.1(Daughter)]; PMID:28587312 [P40]; PMID:21288777 [Fam.3:III.1(Daughter)] |
103569 | F | 215161![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:II.1(Proband)]; PMID:21288777 [Fam.3:II.1(Proband)] |
103577 | F | 215163 | - | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J009:Proband]; PMID:21288777 [S611N] |
103584 | F | 215166![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.2(Proband)]; PMID:21288777 [Fam.4:II.2(Proband)] |
103587 | F | 215166![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.1(Sister)]; PMID:21288777 [Fam.4:II.1(sister)] |
103591 | F | 215168![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J014:II.1(Proband)]; PMID:28587312 [P34] |
103604 | M | 215170![]() |
-,- | Asian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J016:II.2(Proband)]; PMID:21288777 [Fam.5:II.1(Proband)] |
103607 | F | 215171![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.1(Proband)]; PMID:21288777 [Fam.6:II.1(Proband)] |
103612 | M | 215171![]() |
-,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.4(Brother2)]; PMID:28587312 [P32]; PMID:21288777 [Fam.6:II.4(brother)] |
103619 | F | 215174 | - | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J022:Proband]; PMID:28587312 [P9]; PMID:23584561 [T2-1] |
103622 | M | 215175![]() |
-,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.3(Proband)]; PMID:21288777 [Fam.7:II.3(Proband)] |
103626 | F | 215175![]() |
-,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.2(Sister2)]; PMID:21288777 [Fam.7:II.2(sister2)] |
103629 | F | 215175![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:III.2(Niece2)]; PMID:21288777 [Fam.7:III.2(niece)] |
103633 | F | 215177![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:II.1(Daughter)]; PMID:21288777 [Fam.12:II.1(daughter)] |
103635 | M | 215177![]() |
-,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:I.2(Proband)]; PMID:21288777 [Fam.12:I.1(proband)] |
103640 | M | 215179 | -,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J053:Proband]; PMID:21288777 [P639A] |
103641 | F | 215180 | -,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J054:Proband]; PMID:21288777 [S465A] |
103647 | F | 215182![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.1(Daughter)]; PMID:21288777 [Fam.8:II.1(proband)] |
103648 | F | 215182![]() |
-,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:I.1(Proband)]; PMID:21288777 [Fam.8:I.2(mother)]; PMID:23584561 [T3-1] |
103650 | F | 215182![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.2(Daughter2)]; PMID:21288777 [Fam.8:II.2(sister)] |
103655 | F | 215184![]() |
-,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:II.1(Daughter)]; PMID:21288777 [Fam.9:II.1(Daughter)] |
103656 | M | 215184![]() |
-,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:I.1(Proband)]; PMID:21288777 [Fam.9:I.1(proband)] |
103657 | M | 215185 | - | European/American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J088:Proband]; PMID:21288777 [R382L] |
103663 | F | 215187![]() |
-,- | Latino | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J100:Proband]; PMID:28587312 [P41]; PMID:21288777 [Fam.10:I.2(proband)]; PMID:23584561 [T3-11] |
103666 | M | 215188![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J112:II.1(Son)]; PMID:21288777 [Fam.11:II.1(son)] |
103667 | M | 215188![]() |
-,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J112:I.1(Proband)]; PMID:21288777 [Fam.11:I.1(proband)]; PMID:23584561 [T3-7] |
103668 | M | 215189![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J113:II.1(Proband)]; PMID:28587312 [P53]; PMID:23584561 [T2-13] |
103671 | F | 215190 | - | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J121:Proband]; PMID:21288777 [Q644del]; PMID:23584561 [T2/3-8/10] |
103674 | F | 215191 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.1:II.1(P1.1)] | |
103675 | M | 215191 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.1:I.1(P1.2)] | |
103676 | F | 215193 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P2] | |
103678 | M | 215195 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P4] | |
103680 | M | 215197 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P6] | |
103681 | F | 215198![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.7:II.3(P7.1)]; PMID:17942886 [II-3(II.3)] |
103682 | M | 215198![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.7:III.3(P7.2)]; PMID:17942886 [Fam.II-3:III.3(III-3)] |
103683 | M | 215198![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.7:IV.1(P7.3)]; PMID:17942886 [Fam.II-3:IV.1(IV-1)] |
103684 | M | 215201![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P8] | |
103685 | M | 215202![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P9] | |
103686 | M | 215203![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P10] | |
103687 | M | 215204![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P11] | |
103688 | M | 215205 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P12] | |
103689 | M | 215206 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P13] | |
103690 | M | 215207 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P14] | |
103691 | M | 215208 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P15] | |
103693 | F | 215210 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P17] | |
103694 | M | 215211 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P18] | |
103695 | M | 215212![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P19] | |
103696 | F | 215213![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P20] | |
103697 | M | 215214![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P21] | |
103698 | M | 215215![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P22] | |
103699 | M | 215216![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P23] | |
103700 | F | 215217 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P24] | |
103701 | M | 215218![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P25] | |
103702 | M | 215219 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P26] | |
103703 | F | 215220![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P27] | |
103704 | M | 215221![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P28] | |
103705 | M | 215222 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P29] | |
103707 | M | 215224![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P31] | |
103708 | M | 215225 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P32] | |
103709 | M | 215226 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P33] | |
103710 | F | 215227 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P34] | |
103715 | M | 215228 | - | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J012:Proband]; PMID:28587312 [P25] |
103716 | M | 215229 | -,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J013:Proband]; PMID:21288777 [F384L] |
103717 | F | 215230 | - | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J015:Proband]; PMID:28587312 [P18]; PMID:21288777 [F621V] |
103788 | M | 215242![]() |
- | South Korean | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
103792 | F | 215243![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.1:III.3(1-2)] |
103798 | M | 215243![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.1:II.4(1-1)] |
103802 | F | 215243![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.1:III.4(1-3)] |
103803 | M | 215244 | - | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [2-1] |
103804 | M | 215245![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.3:II.10(3-1)] |
103806 | M | 215247 | - | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [5-1] |
103807 | M | 215248![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.6:III.1(6-2)] |
103808 | F | 215248![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.6:II.3(6-1)] |
103810 | F | 215249![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.7:III.4(7-3)] |
103811 | F | 215249![]() |
- | North American | Pneumonia | PMID:20093388 [Fam.7:II.5] | |
103812 | M | 215249![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.7:II.4(7-1)] |
103813 | F | 215249![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.7:III.3(7-2)] |
103814 | M | 215250 | - | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [8-1] |
103816 | F | 215252![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.10:II.1(10-2)] |
103817 | F | 215252![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.10:I.1(10-1)] |
103877 | F | 215266![]() |
1,- | Finnish | Pneumonia,Recurrent lower respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
103880 | F | 215269![]() |
17 | Finnish | Cryptogenic Organizing Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
103914 | F | 215270 | 1 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K1:P1] |
103916 | M | 215271 | 1 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K2:P2] |
103917 | F | 215272![]() |
2 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:II.2(P4)] |
103918 | M | 215272![]() |
27 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:I.1(P3)] |
103921 | F | 215273 | 5 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K4:P5] |
103922 | F | 215274 | 0 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K5:P6] |
103923 | M | 215275![]() |
0 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:II.1(P8)] |
103925 | F | 215275![]() |
- | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:I.2(P7)] |
103926 | F | 215276 | 9 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K7:P9] |
103927 | F | 215277 | 20 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K8:P10] |
103928 | M | 215278 | 3 | Algerian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K9:P11] |
103929 | M | 215279 | 7 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K10:P12] |
103930 | F | 215280 | 3 | Moroccan | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K11:P13] |
103931 | M | 215281![]() |
3 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.2(P16)] |
103935 | F | 215282 | 1 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K13:P17] |
103936 | M | 215283 | 0 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K14:P18] |
103937 | F | 215284 | 4 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K15:P19] |
103938 | M | 215285 | 3 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K16:P20] |
103939 | F | 215286 | 0 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K17:P21] |
103940 | F | 215287![]() |
5 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:P22] |
103945 | M | 215289 | 4 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K19:P24] |
103946 | F | 215290 | 8 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K20:P25] |
103947 | F | 215291 | 3 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K21:P26] |
103948 | F | 215292 | 5 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K22:P27] |
103949 | M | 215293![]() |
0 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.2(P30)] |
103951 | M | 215293![]() |
1 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:I.2(P28)] |
103952 | M | 215293![]() |
2 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.1(P29)] |
103953 | F | 215294 | 3 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K24:P31] |
103954 | M | 215295 | 1 | Algerian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K25:P32] |
103955 | F | 215296 | 2 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K26:P33] |
103956 | M | 215297 | 4 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K27:P34] |
103958 | M | 215298![]() |
3 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:I.1(P35)] |
103963 | M | 215300![]() |
- | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:I.1(P37)] |
103965 | F | 215301 | 1 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K31:P39] |
103966 | F | 215302 | 1 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K32:P40] |
103968 | F | 215304 | 5 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K34:P42] |
103969 | F | 215305![]() |
1 | Pakistani | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.2(P45)] |
103971 | F | 215305![]() |
24 | Pakistani | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:I.2(P43)] |
103972 | M | 215305![]() |
3 | Pakistani | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.1(P44)] |
103973 | M | 215306 | 9 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K36:P46] |
103974 | M | 215307 | 3 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K37:P47] |
103975 | F | 215308![]() |
7 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:II.1(P49)] |
103977 | F | 215308![]() |
16 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:I.2(P48)] |
103978 | M | 215309 | 13 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K39:P50] |
103979 | M | 215310 | 2 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K40:P51] |
103980 | F | 215311 | 1 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K41:P52] |
103982 | F | 215313 | 1 | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K43:P54] |
103983 | M | 215314 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K44:P55] |
103984 | M | 215315 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K45:P56] |
103985 | M | 215316 | 1 | Portuguese | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K46:P57] |
103986 | M | 215317 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K47:P58] |
103998 | M | 215319![]() |
- | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P2] | |
104000 | M | 215321 | - | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P4] | |
104001 | F | 215322![]() |
3 | North American | Lymphoid interstitial pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1] |
104003 | F | 215324 | - | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P7] | |
104004 | F | 215325 | - | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P8] | |
104005 | F | 215326![]() |
- | Lymphoid interstitial pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4] | |
104007 | M | 215326![]() |
- | Lymphoid interstitial pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:I.2(P10)]; PMID:35677041 [Pt5] | |
104052 | F | 215328![]() |
- | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN110]; GRID:000796 [UPN110(II.1)] |
104053 | M | 215329 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:19891924 [Patient] | |
104055 | F | 215331 | -,- | European | Cryptogenic Organizing Pneumonia,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN7]; PMID:18835223 [UPN7]; GRID:000796 [UPN7] |
104056 | M | 215332 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN114]; GRID:000796 [UPN114] |
104057 | M | 215333 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN86]; GRID:000796 [UPN86] |
104058 | F | 215334 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN17]; PMID:18835223 [UPN17]; GRID:000796 [UPN17] |
104059 | M | 215335 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN108]; GRID:000796 [UPN108] |
104060 | M | 215336 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN15]; PMID:18835223 [UPN15]; GRID:000796 [UPN15] |
104061 | M | 215337![]() |
- | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN19]; PMID:18835223 [UPN19]; GRID:000796 [UPN19(II.1)] |
104062 | F | 215338 | - | Colombian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN29]; PMID:18835223 [UPN29]; GRID:000796 [UPN29] |
104063 | M | 215339 | - | Colombian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN31]; PMID:18835223 [UPN31]; GRID:000796 [UPN31] |
104064 | M | 215340 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN43]; GRID:000796 [UPN43] |
104065 | M | 215341 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN56]; GRID:000796 [UPN56] |
104066 | M | 215342 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN63]; GRID:000796 [UPN63] |
104067 | M | 215343 | -,- | Middle Eastern | Pneumonia,Pulmonary eosinophilic infiltration | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN73]; GRID:000796 [UPN73] |
104068 | F | 215344 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN126]; GRID:000796 [UPN126] |
104069 | F | 215345 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN128]; GRID:000796 [UPN128] |
104070 | M | 215346 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN129]; GRID:000796 [UPN129] |
104073 | M | 215349 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN135]; GRID:000796 [UPN135] |
104074 | F | 215350 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN79]; PMID:18835223 [UPN79]; GRID:000796 [UPN79] |
104075 | M | 215351 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN98]; GRID:000796 [UPN98] |
104076 | F | 215352 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN25]; GRID:000796 [UPN25] |
104077 | F | 215353 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN37]; GRID:000796 [UPN37] |
104078 | M | 215354 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN44]; GRID:000796 [UPN44] |
104079 | F | 215355 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN47]; GRID:000796 [UPN47] |
104080 | M | 215356 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN61]; GRID:000796 [UPN61] |
104081 | M | 215357 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN72]; GRID:000796 [UPN72] |
104082 | M | 215358 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN77]; GRID:000796 [UPN77] |
104083 | M | 215359 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN92]; GRID:000796 [UPN92] |
104084 | F | 215360 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN95]; GRID:000796 [UPN95] |
104085 | F | 215361 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN6]; PMID:18835223 [UPN6]; GRID:000796 [UPN6] |
104086 | M | 215362![]() |
- | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN60]; GRID:000796 [UPN60(I.1)] |
104087 | M | 215363![]() |
- | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN65]; GRID:000796 [UPN65(II.2)] |
104088 | F | 215364 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN118]; GRID:000796 [UPN118] |
104089 | F | 215365 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN130]; GRID:000796 [UPN130] |
104090 | F | 215366 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN26]; GRID:000796 [UPN26] |
104091 | F | 215367![]() |
- | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN2]; PMID:18835223 [UPN2]; GRID:000796 [UPN2(II.4)] |
104092 | F | 215368 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN46]; GRID:000796 [UPN46] |
104093 | M | 215369 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN102]; GRID:000796 [UPN102] |
104095 | F | 215371 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN57]; GRID:000796 [UPN57] |
104096 | M | 215372 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN5]; PMID:18835223 [UPN5]; GRID:000796 [UPN5] |
104097 | M | 215373 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN71]; PMID:18835223 [UPN71]; GRID:000796 [UPN71] |
104098 | F | 215374 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN16]; PMID:18835223 [UPN16]; GRID:000796 [UPN16] |
104099 | M | 215375 | - | Colombian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN32]; PMID:18835223 [UPN32]; GRID:000796 [UPN32] |
104100 | M | 215376 | - | Colombian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN33]; PMID:18835223 [UPN33]; GRID:000796 [UPN33] |
104101 | F | 215377 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN42]; GRID:000796 [UPN42] |
104102 | M | 215378 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN45]; GRID:000796 [UPN45] |
104103 | F | 215379 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN66]; GRID:000796 [UPN66] |
104104 | M | 215380 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN67]; GRID:000796 [UPN67] |
104105 | M | 215381![]() |
- | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN106]; GRID:000796 [Fam.UPN106:II.1] |
104106 | M | 215382 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN115]; GRID:000796 [UPN115] |
104107 | M | 215383 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN125]; GRID:000796 [UPN125] |
104108 | M | 215384 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN104]; GRID:000796 [UPN104] |
104109 | M | 215385 | - | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN49]; GRID:000796 [UPN49] |
104111 | M | 215387 | - | Latino | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN27]; GRID:000796 [UPN27] |
104112 | F | 215388 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN103]; GRID:000796 [UPN103] |
104113 | M | 215389 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN18]; PMID:18835223 [UPN18]; GRID:000796 [UPN18] |
104114 | M | 215390 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN116]; GRID:000796 [UPN116] |
104115 | M | 215391 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN96]; GRID:000796 [UPN96] |
104148 | M | 215392![]() |
- | Syrian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.A:III.5(P1)] |
104158 | M | 215393![]() |
- | Australian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
104160 | F | 215393![]() |
20 | Australian | Pneumonia | PMID:34137790 [Fam.B:I.2] | |
104165 | M | 215394![]() |
- | Indian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.C:II.4(P3)] |
104171 | M | 215395![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:III.1(P5)] | |
104174 | M | 215395![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:II.1(P4)] | |
104177 | M | 215396![]() |
- | Maori | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.E:I.1(P6)] |
104190 | F | 215399 | - | Latino | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN30] |
104191 | F | 215400 | - | Middle Eastern | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN136] |
104192 | F | 215401 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN143] |
104193 | M | 215402 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN147] |
104194 | M | 215403 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN151] |
104195 | M | 215404 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN152] |
104196 | M | 215405![]() |
- | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN153(I.1)] |
104200 | M | 215407 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN157] |
104201 | F | 215408 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN158] |
104202 | F | 215409 | - | European | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN159] |
104248 | M | 215424 | - | Afro-American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P10]; PMID:23584561 [T2-10] |
104250 | F | 215426 | - | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P15] |
104251 | M | 215427 | - | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P16]; PMID:35059947 [Patient 4] |
104252 | F | 215428 | - | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P17]; PMID:21288777 [S668F] |
104255 | M | 215431 | - | Afro-American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P20]; PMID:32768442 [Patient 5] |
104256 | F | 215432 | - | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P21]; PMID:31493539 [P5] |
104258 | M | 215434 | - | Afro-American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P26]; PMID:23584561 [T2-16] |
104261 | M | 215437 | - | Asian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P33] |
104263 | F | 215439 | - | Afro-American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P36]; PMID:23584561 [T2-17] |
104287 | F | 215446 | - | Dutch | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:19878510 [C1] |
104288 | M | 215447 | - | Dutch | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:19878510 [C2] |
104289 | M | 215448 | - | Dutch | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:19878510 [C3] |
104296 | M | 215449![]() |
- | Chinese (China) | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21107604 [Case(II.1)] |
104300 | F | 215450![]() |
- | Greek | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:20149460 [Patient] |
104307 | F | 215451![]() |
-,- | North American | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:19483664 [Patient(II.1)]; PMID:26292779 [Co2] |
104308 | M | 215451![]() |
- | North American | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:19483664 [Fam.Patient:I.1] |
104311 | M | 215452 | - | Australian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES1] |
104312 | M | 215453 | - | Australian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES2] |
104315 | F | 215456 | - | Australian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES5] |
104332 | F | 215471 | - | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [W479C]; PMID:23584561 [T3-17]; PMID:26292779 [H3] |
104333 | F | 215472 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [G618D]; PMID:23584561 [T2-5] | |
104336 | F | 215475 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [N472D]; PMID:23584561 [T2-9] | |
104340 | M | 215479 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [V637M]; PMID:23584561 [T2-15] | |
104342 | M | 215481 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:23584561 [T3-4] | |
104347 | F | 215486 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:23584561 [T3-9] | |
104349 | M | 215488 | -,- | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [del371-380]; PMID:23584561 [T3-14] | |
104351 | M | 215490 | - | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H1] |
104352 | F | 215491 | 13 | Caucasian | Increased inflammatory response | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H2] |
104353 | M | 215492 | 18 | Asian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Cr1] |
104354 | F | 215493 | -,- | Caucasian | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Co1] |
104355 | M | 215494 | 0,2 | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H8]; PMID:22126402 [case] | |
104356 | M | 215495 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P1] |
104357 | M | 215496 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P2] |
104358 | F | 215497 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P3] |
104359 | F | 215498 | - | French Caribbean | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P4] |
104360 | M | 215499 | - | French Caribbean | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P5] |
104361 | M | 215500 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P6] |
104362 | F | 215501 | - | Pakistani | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P7] |
104363 | M | 215502 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P8] |
104364 | F | 215503 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P9] |
104365 | F | 215504 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P10] |
104366 | M | 215505 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P11] |
104367 | F | 215506 | - | Moroccan | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P12] |
104368 | F | 215507 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P13] |
104369 | F | 215508 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [V343F] | |
104370 | M | 215509 | - | Algerian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P14] |
104371 | M | 215510 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P15] |
104372 | M | 215511 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P16] |
104373 | F | 215512 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P17] |
104374 | F | 215513 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P18] |
104375 | M | 215514 | - | French | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P19] |
104379 | M | 215187![]() |
- | Latino | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.10:II.1(son)] |
104383 | M | 215517![]() |
-,- | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:II.1(proband)] | |
104385 | F | 215517![]() |
-,- | Lung disease,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:I.2(mother)] | |
104386 | M | 215518![]() |
-,- | Ivorian | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:37080116 [P19(II.1)] |
104392 | F | 215520![]() |
- | French | Increased inflammatory response | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104414 | M | 215526![]() |
0 | Turkish | Pneumonia | Early-onset atopic inflammation | PMID:36758835 [Patient(V.3)] |
104444 | F | 215528![]() |
1 | Spanish | Pneumonia | Early-onset atopic inflammation | PMID:36884218 [Fam.B:II.2(P2)] |
104449 | M | 215529![]() |
1 | Middle Eastern | Recurrent lower respiratory tract infections | Early-onset atopic inflammation | PMID:36884218 [Fam.C:II.1(P4)] |
104453 | F | 215530![]() |
5,5 | European | (unusual) Respiratory tract infection,Pneumonia | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
104461 | M | 215532![]() |
1 | European | Pneumonia | Early-onset atopic inflammation | PMID:36884218 [Fam.F:II.1(P8)]; PMID:37316763 [Patient(II.1)] |
104519 | F | 215537 | - | Gypsy | Pneumonia | ARPC1B deficiency | PMID:31379835 [P1] |
104520 | M | 215537 | - | Gypsy | Pneumonia | ARPC1B deficiency | PMID:31379835 [Fam.P1:II.2(P2)] |
104521 | F | 215538 | - | Gypsy | Pneumonia | ARPC1B deficiency | PMID:31379835 [P3] |
104528 | M | 215543 | 10 | Iranian | Pneumonia | Immunodeficiency 91 and hyperinflammation | PMID:33876776 [Fam.A:II.2(P1)] |
104554 | M | 215551![]() |
- | Pakistani | RSV pneumonia | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:V.2(V:2)]; PMID:27559085 [Fam.1:V.2(P1)]; PMID:35587511 [Fam.G:II.2(4)]; PMID:34797715 [P1]; PMID:38914362 [Fam.A:V.2(023)] |
104568 | F | 215551![]() |
- | Pakistani | Pneumonia | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)] |
104582 | M | 215553![]() |
- | Turkish | Pneumonia | Immunodeficiency 107 | PMID:27559085 [Fam.3:I.2]; PMID:35587511 [Fam.H:I.2(2)]; PMID:38914362 [Fam.C:I.1(037)] |
104607 | M | 215556![]() |
- | (unusual) Respiratory tract infection | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.A:II.3(P1)] | |
104612 | M | 215557![]() |
1 | Greek | Pneumonia | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:35170849 [Patient(II.2)]; PMID:38914362 [Fam.F:II.2(069)] |
104619 | M | 215558![]() |
19 | Dutch | Pneumonia | Immunodeficiency 107 | PMID:35587511 [Fam.A:II.3(5)]; PMID:38914362 [Fam.G:II.3(075)] |
104625 | M | 215559![]() |
-,- | Increased inflammatory response,Pneumonia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.B:II.2(P2)] | |
104630 | M | 215560![]() |
-,- | Increased inflammatory response,Pneumonia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.C:II.2(P3)] | |
104639 | F | 215562 | 1 | Iraqi | Pneumonia | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.2(P1.2)] |
104642 | F | 215562 | 1 | Iraqi | Pneumonia | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.1(P1.1)] |
104644 | M | 215563![]() |
- | Argentinian | Pneumonia | Immunodeficiency 107 | PMID:35587511 [Fam.B:III.2(5)]; PMID:38914362 [Fam.H:III.1(080)] |
104645 | F | 215563![]() |
- | Argentinian | Pneumonia | Immunodeficiency 107 | PMID:35587511 [Fam.B:I.1(1)]; PMID:38914362 [Fam.H:I.2(077)] |
104647 | F | 215563![]() |
- | Argentinian | Pneumonia | Immunodeficiency 107 | PMID:35587511 [Fam.B:II.1(3)]; PMID:38914362 [Fam.H:II.2(079)] |
104651 | M | 215563![]() |
- | Argentinian | Pneumonia | Immunodeficiency 107 | PMID:35587511 [Fam.B:IV.1(7)]; PMID:38914362 [Fam.H:IV.1(083)] |
104653 | M | 215564![]() |
8 | Mexican | Pneumonia | Immunodeficiency 107 | PMID:35587511 [Fam.C:III.1(5)]; PMID:38914362 [Fam.I:III.1(089)] |
104656 | M | 215565![]() |
2 | French | Pneumonia | Immunodeficiency 107 | PMID:35587511 [Fam.D:II.3(5)]; PMID:38914362 [Fam.J:II.3(094)] |
104671 | F | 215568![]() |
2,- | Lebanese | (unusual) Respiratory tract infection,Pneumonia | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104678 | F | 215569![]() |
0,- | Iranian | (unusual) Respiratory tract infection,Pneumonia | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.2:II.2(P2)] |
104787 | M | 215573![]() |
-,40 | Lung disease,Pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
104838 | M | 215578![]() |
-,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56] |
104845 | F | 215579![]() |
-,- | European | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)] |
104846 | F | 215580 | 0 | Egyptian | Pneumonia | Omenn syndrome 2 | PMID:30307608 [1] |
104848 | F | 215582 | 0 | Egyptian | Pneumonia | Omenn syndrome 2 | PMID:30307608 [3] |
104849 | F | 215583 | 0 | Egyptian | Pneumonia | Omenn syndrome 2 | PMID:30307608 [4] |
104851 | M | 215585 | 0 | Egyptian | Pneumonia | Omenn syndrome 3 | PMID:30307608 [6] |
104855 | F | 215589 | 0 | Egyptian | Pneumonia | Omenn syndrome 3 | PMID:30307608 [7] |
104856 | F | 215590 | 0 | Egyptian | Pneumonia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [9] |
104857 | M | 215591 | 0 | Egyptian | Pneumonia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [10] |
104858 | M | 215592 | 0 | Egyptian | Pneumonia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [11] |
104859 | M | 215593 | 0 | Egyptian | Pneumonia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [12] |
104860 | F | 215594 | 0 | Egyptian | Pneumonia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [13] |
104861 | M | 215595 | 0 | Egyptian | Pneumonia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [14] |
104863 | M | 215597 | 0 | Egyptian | Pneumonia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [16] |
104865 | M | 215599 | 1 | Egyptian | Pneumonia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [17] |
104866 | F | 215600 | 0 | Egyptian | Pneumonia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [18] |
104867 | F | 215601 | 0 | Egyptian | Pneumonia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [19] |
104872 | M | 215603 | 0 | Egyptian | Pneumonia | Severe combined immunodeficiency 9A, T-B- | PMID:30307608 [22(II.1)] |
104876 | F | 215579![]() |
- | European | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:III.1(III.1)]; PMID:26279205 [Fam.NZ:III.1(III1)]; PMID:29806948 [Fam.NZ:III.1(III.1)]; PMID:30323807 [Fam.2:III.1(III.1)]; PMID:150198 [Fam.AC:III.1(112)] |
104879 | F | 215606 | 0 | Egyptian | Pneumonia | Severe combined immunodeficiency 9A, T-B- | PMID:30307608 [25] |
104880 | M | 215607 | - | Egyptian | Pneumonia | Severe combined immunodeficiency 9A, T-B- | PMID:30307608 [26] |
104881 | F | 215608 | - | Egyptian | Pneumonia | Severe combined immunodeficiency 10A, T-B+ | PMID:30307608 [27] |
104883 | F | 215610 | - | Egyptian | Pneumonia | Combined cellular and humoral immune defects with granulomas 1 | PMID:30307608 [29] |
104884 | M | 215611 | - | Egyptian | Pneumonia | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | PMID:30307608 [30] |
104885 | F | 215612 | - | Egyptian | Pneumonia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [31] |
104886 | F | 215613![]() |
- | Caucasian | Pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104916 | M | 215613![]() |
-,- | Caucasian | Lung disease,Pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)] |
104923 | M | 215620![]() |
- | Pneumonia | Immunodeficiency, common variable, 14 | PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)] | |
104932 | F | 215622![]() |
- | Dutch | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.16(II.16)]; PMID:26279205 [Fam.NL1:II.20(18)]; PMID:29403474 [Fam.NL1 (5):II.20(18)]; PMID:11583829 [Fam.1:II.19(II:19)]; PMID:16639407 [Fam.1:II.20(18)]; PMID:150198 [Fam.AA:II.20(022)] |
104942 | F | 215622![]() |
-,-,- | Dutch | Lymphoid interstitial pneumonia,Pneumonia,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.18(III.18)]; PMID:26279205 [Fam.NL1:III.19(57)]; PMID:29403474 [Fam.NL1 (5):III.19(57)]; PMID:150198 [Fam.AA:III.19(045)]; PMID:35242131 [Fam.2:I.1(P2)] |
104953 | F | 215622![]() |
-,74 | Dutch | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.14(II.14)]; PMID:26279205 [Fam.NL1:II.18(16)]; PMID:29403474 [Fam.NL1 (5):II.18(16)]; PMID:11583829 [Fam.1:II.17(II:17)]; PMID:16639407 [Fam.1:II.18(16)]; PMID:150198 [Fam.AA:II.18(020)] |
104956 | F | 215622![]() |
55 | Dutch | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.18(II.18)]; PMID:26279205 [Fam.NL1:II.22(19)]; PMID:29403474 [Fam.NL1 (5):II.22(19)]; PMID:11583829 [Fam.1:II.21(II:21)]; PMID:16639407 [Fam.1:II.22(19)]; PMID:150198 [Fam.AA:II.22(024)] |
104957 | M | 215622![]() |
-,31 | Dutch | Lung disease,Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.20(II.20)]; PMID:26279205 [Fam.NL1:II.23(21)]; PMID:29403474 [Fam.NL1 (5):II.23(21)]; PMID:11583829 [Fam.1:II.23(II:23)]; PMID:16639407 [Fam.1:II.23(21)]; PMID:150198 [Fam.AA:II.23(025)] |
104959 | F | 215622![]() |
- | Dutch | Recurrent lower respiratory tract infections | PMID:32278790 [Fam.NA:III.1(III.1)]; PMID:26279205 [Fam.NL1:III.1(23)]; PMID:29403474 [Fam.NL1 (5):III.1(23)]; PMID:11583829 [Fam.1:III.1(III:1)]; PMID:16639407 [Fam.1:III.1(23)]; PMID:150198 [Fam.AA:III.1(027)] | |
104960 | F | 215622![]() |
- | Dutch | Recurrent lower respiratory tract infections | PMID:32278790 [Fam.NA:III.2(III.2)]; PMID:26279205 [Fam.NL1:III.2(24)]; PMID:29403474 [Fam.NL1 (5):III.2(24)]; PMID:11583829 [Fam.1:III.2(III:2)]; PMID:16639407 [Fam.1:III.2(24)]; PMID:150198 [Fam.AA:III.2(028)] | |
104962 | F | 215622![]() |
- | Dutch | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.3(III.3)]; PMID:26279205 [Fam.NL1:III.4(25)]; PMID:29403474 [Fam.NL1 (5):III.4(25)]; PMID:11583829 [Fam.1:III.3(III:3)]; PMID:16639407 [Fam.1:III.4(25)]; PMID:150198 [Fam.AA:III.4(030)] |
104970 | M | 215622![]() |
50,- | Dutch | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.13(III.13)]; PMID:26279205 [Fam.NL1:III.12(34)]; PMID:29403474 [Fam.NL1 (5):III.12(34)]; PMID:11583829 [Fam.1:III.12(III:12)]; PMID:16639407 [Fam.1:III.12(34)]; PMID:150198 [Fam.AA:III.12(038)] |
104972 | F | 215622![]() |
- | Dutch | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.14(III.14)]; PMID:26279205 [Fam.NL1:III.14(36)]; PMID:29403474 [Fam.NL1 (5):III.14(36)]; PMID:11583829 [Fam.1:III.14(III:14)]; PMID:16639407 [Fam.1:III.14(36)]; PMID:27923702 [Patient 4]; PMID:27555455 [Patient 2]; PMID:150198 [Fam.AA:III.14(040)] |
105007 | F | 215622![]() |
-,- | Dutch | Pneumonia,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.26(III.26)]; PMID:26279205 [Fam.NL1:III.28(40)]; PMID:29403474 [Fam.NL1 (5):III.28(40)]; PMID:11583829 [Fam.1:III.18(III:18)]; PMID:16639407 [Fam.1:III.19(40)]; PMID:150198 [Fam.AA:III.28(054)] |
105025 | F | 215626![]() |
5 | French | Lymphoid interstitial pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8] |
105034 | F | 215628![]() |
-,19 | Finnish | Pneumonia,Recurrent lower respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
105043 | F | 215630![]() |
-,-,- | Caucasian | Lymphoid interstitial pneumonia,Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105050 | F | 215633 | - | Recurrent lower respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Patient 2] | |
105057 | F | 215635![]() |
- | German | Pneumonia | NFKB1 insufficiency | PMID:32278790 [S.I.1]; PMID:29403474 [Patient 1 (8)]; PMID:27365489 [Fam.1:II.1(Pat.1)]; PMID:150198 [Fam.AE:II.1(121)] |
105075 | M | 215636 | 38 | Spanish | Pneumonia | Combined immunodeficiency 36 | PMID:35464398 [P5(II.1)] |
105088 | M | 215638 | -,- | Japanese | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1] |
105093 | F | 215639![]() |
11,- | Israeli | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.AA:II.2(II.2)]; PMID:29403474 [Patient 2 (8)]; PMID:27365489 [Fam.2:II.2(Pat.2)]; PMID:150198 [Fam.AF:II.2(127)] |
105102 | M | 215640![]() |
7 | European | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)] |
105108 | M | 215643![]() |
- | Caucasian | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AB:I.2(I.2)]; PMID:29403474 [Fam.(7):I.1(Father)]; PMID:27338827 [Fam.1:I.2(I-2)]; PMID:150198 [Fam.AD:I.1(115)] |
105110 | M | 215644 | - | Pneumonia | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
105111 | F | 215645 | -,- | Pneumocystis jiroveci pneumonia,Pneumonia | NFKB1 insufficiency | PMID:27379089 [P4]; PMID:32278790 [AR.I.4]; PMID:29403474 [Patient 4 (10)]; PMID:150198 [Fam.AI:146] | |
105112 | F | 215646 | - | Pneumonia | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
105129 | M | 215647![]() |
-,- | Lung disease,Pneumonia | NFKB1 insufficiency | PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] | |
105130 | F | 215647![]() |
- | Pneumonia | NFKB1 insufficiency | PMID:27379089 [Fam.1:c2(P2)]; PMID:32278790 [Fam.BA:II.2(II.2)]; PMID:29403474 [Fam.(10):c2(Patient 2)]; PMID:150198 [Fam.AG:IV.2(144)] | |
105131 | M | 215648 | -,- | Italian | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:32278790 [BG.I.1]; PMID:29403474 [Patient 1 (6)]; PMID:27923702 [Patient 1]; PMID:27555455 [Patient 1]; PMID:150198 [Fam.AN:160] |
105142 | M | 210314![]() |
-,- | German | Lung disease,Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.BF:II.1(II.1)]; PMID:29403474 [Fam.(13):II.2(Patient 3)]; PMID:27923702 [Fam.191:II.2(Patient 3)]; PMID:150198 [Fam.AO:II.3(165)] |
105175 | M | 215660 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Q:II.1(Q.II.1 (44))]; PMID:27102614 [Fam.B:I.1(2)] |
105176 | F | 215661 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)] |
105177 | M | 215661 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [L.II.2]; PMID:29729943 [Fam.L:II.2(L.II.2 (36))]; PMID:27102614 [Fam.C:II.2(4)] |
105179 | F | 215661 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)] |
105180 | M | 215662 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105185 | M | 215663 | 7 | (unusual) Respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7] | |
105194 | M | 215665![]() |
- | Iranian | Cryptogenic Organizing Pneumonia | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
105203 | F | 215669 | 4 | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:23733509 [P1(II.1)] |
105209 | M | 215666![]() |
39 | Finnish | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.1(II.1)]; PMID:28115215 [Fam.1:II.1(F1.II-1)]; PMID:150198 [Fam.AQ:II.1(171)]; PMID:36356849 [Fam.6:II.1(F6:II:1)]; PMID:36105815 [Fam.H67R:II.1(H67R/1)] |
105218 | F | 215666![]() |
- | Finnish | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.6(III.6)]; PMID:29403474 [Fam.1 (9):III.6(F1.III-6)]; PMID:28115215 [Fam.1:III.6(F1.III-6)]; PMID:150198 [Fam.AQ:III.6(180)]; PMID:36356849 [Fam.6:III.6(F6:III:6)]; PMID:36105815 [Fam.H67R:III.6(H67R/5)] |
105219 | F | 215666![]() |
27 | Finnish | Increased inflammatory response | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.7(III.7)]; PMID:29403474 [Fam.1 (9):III.7(F1.III-7)]; PMID:28115215 [Fam.1:III.7(F1.III-7)]; PMID:150198 [Fam.AQ:III.7(181)]; PMID:36356849 [Fam.6:III.7(F6:III:7)]; PMID:36105815 [Fam.H67R:III.7(H67R/6)] |
105225 | F | 215671![]() |
- | Finnish | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
105226 | M | 215671![]() |
- | Finnish | (unusual) Respiratory tract infection | PMID:32278790 [Fam.F2:I.1(I.1)]; PMID:28115215 [Fam.2:I.1(F2.I-1)]; PMID:150198 [Fam.AR:I.1(187)]; PMID:36356849 [Fam.5:I.1(F5:I:1)] | |
105231 | M | 215671![]() |
1,1 | Finnish | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)] |
105232 | M | 215672![]() |
48 | Finnish | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.1(II.1)]; PMID:29403474 [Fam.3 (9):II.1(F3.II-1)]; PMID:28115215 [Fam.3:II.1(F3.II-1)]; PMID:150198 [Fam.AS:II.1(196)]; PMID:36356849 [Fam.3:II.1(F3:II:1)]; PMID:36892687 [II:1(II.1)]; PMID:38593810 [Fam.1:II.1(F1.II-1)] |
105234 | F | 215672![]() |
89 | Finnish | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.F3:I.2(I.2)]; PMID:28115215 [Fam.3:I.2(F3.I-2)]; PMID:150198 [Fam.AS:I.2(195)]; PMID:36356849 [Fam.3:I.2(F3:I:2)]; PMID:36892687 [I:2(I.2)]; PMID:38593810 [Fam.1:I.2(F1.I-2)] |
105239 | F | 215672![]() |
7 | Finnish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.8(II.6)]; PMID:28115215 [Fam.3:II.6(F3.II-6)]; PMID:150198 [Fam.AS:II.14(209)]; PMID:36356849 [Fam.3:II.14(F3:II:14)]; PMID:36892687 [II:7(II.7)]; PMID:38593810 [Fam.1:II.13(F1.II-7)] |
105245 | M | 215674![]() |
- | Caucasian | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [Fam.AN:II.2(II.1)]; PMID:29403474 [Fam.(12):I.1(P9.1)]; PMID:28983403 [Fam.1:I.1(P9.1)]; PMID:150198 [Fam.AT:II.1(223)] |
105246 | M | 215674![]() |
- | Caucasian | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AN:III.2(III.1)]; PMID:29403474 [Fam.(12):II.1(P9.2)]; PMID:28983403 [Fam.1:II.1(P9.2)]; PMID:150198 [Fam.AT:III.2(226)] |
105248 | F | 215676 | 1,14 | Turkish | (unusual) Respiratory tract infection,Pneumonia | Immunodeficiency, common variable, 8 | PMID:28956255 [P2(II.1)] |
105249 | M | 215676 | - | Turkish | RSV pneumonia | Immunodeficiency, common variable, 8 | PMID:28956255 [Fam.P2:II.2] |
105251 | M | 215678 | 3 | Recurrent pneumonia | Combined immunodeficiency 36 | PMID:33876203 [P1(II.1)] | |
105254 | F | 215679 | - | Pneumonia | Severe combined immunodeficiency 9A, T-B- | PMID:25516070 [Pt1] | |
105256 | F | 210008![]() |
-,- | German | Lung disease,Pneumonia | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105273 | F | 215682 | 18 | North American | Lung disease | CTLA4 haploinsufficiency with autoimmune infiltration | GRID:000111 [Patient(I.1)] |
105279 | F | 215685![]() |
42 | European | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.B:II.1(II.1)]; PMID:29477724 [Fam.B:II.1(II:1)]; PMID:150198 [Fam.AV:II.1(244)] |
105280 | M | 215685![]() |
28 | European | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.B:I.1(I.1)]; PMID:29477724 [Fam.B:I.1(I:1)]; PMID:150198 [Fam.AV:I.1(242)] |
105287 | F | 215640![]() |
52 | European | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.A:II.4(II.4)]; PMID:29477724 [Fam.A:II.4(II:4)]; PMID:150198 [Fam.AU:II.5(233)] |
105290 | M | 215640![]() |
- | European | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.2(III.2)]; PMID:29477724 [Fam.A:III.2(III:2)]; PMID:150198 [Fam.AU:III.2(235)]; PMID:32918165 [Fam.A:III.2(brother)] |
105296 | F | 215686![]() |
-,- | European | Lung disease,Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.C:I.2(I.2)]; PMID:29477724 [Fam.C:I.2(I:2)]; PMID:150198 [Fam.AW:I.2(246)] |
105301 | M | 215686![]() |
- | European | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)] |
105308 | F | 215687![]() |
-,- | European | Lung disease,Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)] |
105313 | M | 215688![]() |
17,17 | European | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:32278790 [E.II.1]; PMID:29477724 [Fam.E:II.1(II:1)]; PMID:150198 [Fam.AY:II.2(264)]; PMID:36105815 [Fam.I281M:II.2(I281M/1)] |
105314 | F | 215689 | -,- | European | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:32278790 [F.II.1]; PMID:29477724 [Fam.F:II.1(II:1)]; PMID:150198 [Fam.AZ:265]; PMID:36105815 [V98D] |
105315 | F | 215690 | 18,- | European | Pneumonia,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S] |
105316 | U | 215691 | - | European | Pneumonia | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
105317 | M | 215692![]() |
- | European | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)] |
105328 | F | 215693![]() |
- | European | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.L:II.1(II.1)]; PMID:29477724 [Fam.L:II.1(II:1)]; PMID:150198 [Fam.BF:II.1(283)] |
105331 | M | 215693![]() |
- | European | (unusual) Respiratory tract infection | PMID:32278790 [Fam.L:II.2(II.2)]; PMID:29477724 [Fam.L:II.2(II:2)]; PMID:150198 [Fam.BF:II.2(284)] | |
105332 | U | 215694 | 30,- | European | (unusual) Respiratory tract infection,RSV pneumonia | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105335 | U | 215697 | -,- | European | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
105337 | U | 215699 | - | European | Pneumonia | NFKB1 insufficiency | PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268] |
105338 | U | 215700 | - | European | Pneumonia | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
105341 | F | 215703 | 0 | Pneumocystis jiroveci pneumonia | Immunodeficiency 84 | PMID:34694366 [Fam.1:III.1(p1)] | |
105347 | M | 215709 | 0 | Pneumonia | Combined immunodeficiency with skin-hair depigmentation | PMID:36917008 [P1(II.-)] | |
105348 | M | 215710 | 2 | Pneumonia | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P1(II.-)] | |
105350 | M | 215712 | 4,5 | Omani | Lymphoid interstitial pneumonia,Pneumonia | Immunodeficiency, common variable, 8 | PMID:28690850 [P1] |
105353 | F | 215715 | - | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:26686526 [P1] |
105357 | M | 215719 | 4 | Pneumonia | Immunodeficiency, common variable, 8 | PMID:29804237 [P1] | |
105370 | F | 215725 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)] |
105377 | F | 215728 | - | Pneumocystis jiroveci pneumonia | Immunodeficiency 84 | PMID:35444653 [p1] | |
105388 | M | 215739 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31238161 [Fam.F1:P1] | |
105398 | F | 215749 | 4 | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
105400 | M | 215751 | 14,- | Turkish | Cryptogenic Organizing Pneumonia,Pneumonia | Immunodeficiency, common variable, 8 | PMID:32219082 [Patient 1] |
105404 | M | 215755 | - | Pneumonia | Immunodeficiency, common variable, 8 | PMID:32738296 [P6] | |
105406 | M | 215757 | - | Pneumonia | Immunodeficiency, common variable, 8 | PMID:31876783 [Patient 1] | |
105408 | F | 215758 | -,- | (unusual) Respiratory tract infection,Lymphoid interstitial pneumonia | Immunodeficiency, common variable, 8 | PMID:33425813 [Case3] | |
105412 | F | 215762![]() |
- | Caucasian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)] |
105413 | F | 215763![]() |
1 | Pneumonia | Immunodeficiency 107 | PMID:38914362 [Fam.P:II.1(116)]; PMID:38129331 [case(II.1)] | |
105416 | F | 215764![]() |
7 | Chinese (China) | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:30363934 [case 3(I.2)]; PMID:150198 [Fam.BN:I.2(303)] |
105424 | M | 215766![]() |
1 | Admixed | RSV pneumonia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.1(P8)]; PMID:25457153 [Fam.1:II.2(P1)]; PMID:25075846 [Fam.1:II.2(older-sib)] |
105450 | F | 215770![]() |
- | Caucasian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [BI.I.1]; PMID:150198 [Fam.BU:II.1(337)]; PMID:31803180 [Fam.D:II.1(S7)]; PMID:34619682 [P.150] |
105453 | M | 215771![]() |
41 | Caucasian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [BO.I.2]; PMID:150198 [Fam.BV:II.3(342)]; PMID:31803180 [Fam.E:II.3(S8)]; PMID:36105815 [Fam.R157P:II.3(S8)] |
105458 | M | 215771![]() |
- | Caucasian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [BO.I.1]; PMID:150198 [Fam.BV:II.5(344)]; PMID:31803180 [Fam.E:II.4(S9)]; PMID:36105815 [Fam.R157P:II.5(S9)]; PMID:34619682 [P.210] |
105463 | M | 215772![]() |
- | Russian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [AO.I.1]; PMID:150198 [Fam.BS:I.1(317)]; PMID:31803180 [Fam.B:I.1(S2)]; PMID:34619682 [P.122] |
105470 | M | 215774 | - | Iranian | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.BP:309]; PMID:31117086 [P35] |
105471 | M | 215775![]() |
1 | Filipino | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T] |
105477 | F | 215776![]() |
- | European | Pneumonia | PMID:37301410 [Fam.P1:I.2] | |
105488 | M | 215781 | - | Pneumocystis jiroveci pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:28983403 [P2] | |
105489 | F | 215782 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:28983403 [P3] | |
105533 | M | 215791 | 35 | Portuguese | Pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105537 | M | 215793 | - | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24698326 [P1] | |
105542 | M | 215796 | - | Recurrent pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P6] | |
105543 | M | 215797 | 40 | Recurrent pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P7] | |
105562 | M | 215805 | -,1 | Turkish | (unusual) Respiratory tract infection,Pneumonia | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
105563 | F | 215806 | 1 | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:31026575 [P2]; PMID:31432443 [P6(II.1)] |
105564 | M | 215807![]() |
3,3 | Spanish | (unusual) Respiratory tract infection,Pneumonia | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
105567 | M | 215808 | - | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:31026575 [P3]; PMID:31432443 [P12] |
105576 | U | 215815 | 2 | Pneumonia | Activated p110-delta syndrome 1 | PMID:24698326 [P8] | |
105633 | F | 215827 | - | Pneumocystis jiroveci pneumonia | Immunodeficiency 84 | PMID:34694366 [Fam.1:II.1(p3)] | |
105635 | F | 215829 | 4 | Caucasian | Pneumonia | Activated p110-delta syndrome 1 | PMID:26371693 [1] |
105641 | F | 215831![]() |
38 | Chinese (China) | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:30363934 [case 1(I.2)] |
105646 | M | 215703 | - | Pneumocystis jiroveci pneumonia | Immunodeficiency 84 | PMID:34694366 [Fam.1:I.1(p4)] | |
105647 | M | 215832 | - | Pneumonia | Immunodeficiency, common variable, 8 | PMID:34368306 [Patient 3] | |
105657 | F | 215835 | - | Pneumonia | Activated p110-delta syndrome 1 | PMID:27379089 [11] | |
105658 | M | 215836 | 1 | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.1(Sibling 1)] | |
105659 | F | 215836 | 1 | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
105660 | F | 215836 | - | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.3(Sibling 3)] | |
105671 | M | 215837![]() |
- | Spanish | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
105676 | M | 215838![]() |
- | Ecuadorian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)] |
105687 | F | 215840![]() |
- | Caucasian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.BL:I.1(I.1)]; PMID:150198 [Fam.CE:I.2(416)]; PMID:36105815 [Fam.H67Y:I.2(H67Y/1)] |
105691 | M | 215841![]() |
- | Australian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.W:I.1(W.I.1)]; PMID:150198 [Fam.CF:I.1(418)] |
105694 | F | 215842![]() |
- | German | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.Y:II.1(Y.II.1)]; PMID:150198 [Fam.CG:II.1(423)] |
105697 | F | 211370![]() |
64 | Turkish | Pneumonia | PMID:32278790 [Fam.AJ:I.1(I.1)]; PMID:150198 [Fam.BZ:I.2(366)] | |
105731 | F | 215843 | -,- | Russian | Lung disease,Pneumonia | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
105740 | U | 215845 | -,- | Lung disease,Pneumonia | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
105741 | F | 215846 | - | Indian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [T.I.1]; PMID:150198 [Fam.CJ:426] |
105742 | F | 215847 | - | Brasilian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428] |
105747 | F | 215852![]() |
- | Dutch | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)] |
105750 | M | 215853 | - | North American | Pneumonia | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
105751 | M | 215854 | -,- | Pneumonia,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
105756 | F | 215859 | - | Portuguese | Pneumonia | NFKB1 insufficiency | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
105758 | M | 215861 | - | Iranian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
105762 | F | 215863 | - | Iranian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446] |
105763 | F | 215864![]() |
- | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.BQ:I.1(I.1)]; PMID:150198 [Fam.DB:I.2(448)]; PMID:36105815 [Fam.D186Y:I.1(D186Y/1)] | |
105773 | M | 215866 | 63 | German | Pneumonia | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
105774 | F | 215867 | - | German | Pneumonia | NFKB1 insufficiency | PMID:32278790 [BV.I.1]; PMID:150198 [Fam.DG:464]; PMID:36105815 [P246T] |
105775 | F | 215868 | 25 | German | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
105776 | M | 215869 | - | Iranian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1] |
105777 | M | 215870 | - | Iranian | Pneumonia | NFKB1 insufficiency | PMID:32278790 [CA.I.1]; PMID:150198 [Fam.DL:469]; PMID:36105815 [Fam.K326N/CA:K326N/2] |
105778 | F | 215871![]() |
- | Spanish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)] |
105779 | F | 215872 | - | Turkish | Pneumonia | NFKB1 insufficiency | PMID:32278790 [CC.I.1]; PMID:150198 [Fam.DN:474] |
105791 | F | 215877![]() |
- | Spanish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:II.1(1.1)] |
105793 | M | 215877![]() |
-,- | Spanish | (unusual) Respiratory tract infection,Pneumonia | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:I.2(1.2)] |
105794 | M | 215878![]() |
- | Spanish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.2:II.1(2.1)] |
105797 | M | 215879 | - | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S041] | |
105799 | M | 215881![]() |
1 | Pakistani | Pneumocystis jiroveci pneumonia | Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
105824 | M | 215834![]() |
- | Spanish | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Fam.AV:I.2(I.2)]; PMID:150198 [Fam.BL:I.1(292)] |
105827 | M | 215884 | 6 | German | Pneumonia | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.Sporadic patien:Sporadic patient 1] |
105830 | M | 215887 | 1 | Polish | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.2 Sporadic pati:2 Sporadic patient 2] |
105839 | M | 215888![]() |
14 | Romani | Pneumonia | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.3:II.1(3.1)] |
105844 | M | 215889![]() |
- | Spanish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.4:II.1(4.1)] |
105847 | M | 215890![]() |
1,7 | Spanish | Bronchopneumonia,Pneumonia | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.5:II.1(5.1)] |
105859 | F | 215894![]() |
46,- | British | (unusual) Respiratory tract infection,Lymphoid interstitial pneumonia | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)] |
105862 | F | 215894![]() |
1 | British | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:II.3(554)]; PMID:150198 [Fam.EA:II.3(554)]; PMID:34922003 [Fam.A:II.3(A2)]; PMID:34922003 [Fam.A:II.3(A2)] |
105864 | F | 215894![]() |
- | British | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.EA:II.4(555)]; PMID:34922003 [Fam.A:II.4(A3)] |
105865 | M | 215894![]() |
1 | British | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:150198 [Fam.EA:III.1(556)]; PMID:34922003 [Fam.A:III.1(A4)] |
105902 | F | 215903![]() |
- | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.1(elder-sister)] |
105907 | M | 215904 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.J:II.1(J.II.1 (32))] |
105910 | F | 215905 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))] |
105911 | F | 215906![]() |
- | French | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:III.1(P2)] |
105915 | M | 215906![]() |
31,- | French | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:II.2(P1)] |
105918 | F | 215908![]() |
-,- | Moroccan | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:I.1(P3)] |
105921 | F | 215908![]() |
33,3 | Moroccan | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.2(P5)] |
105924 | F | 215908![]() |
- | Moroccan | Pneumonia | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.5(P6)] |
105926 | M | 215909 | -,- | Japanese | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)] |
105943 | M | 215912![]() |
-,13 | Colombian/Swiss | Pneumonia,Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.C:II.1(P8)] |
105949 | M | 215913![]() |
- | Caucasian | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.EC:II.2(563)]; PMID:36105815 [Fam.R231C:II.2(R231C/3)]; PMID:35003082 [Fam.1:II.2(P3/S.3)]; PMID:34619682 [P.233] |
105957 | M | 215914 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105986 | F | 215921![]() |
-,- | Pneumonia,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
105999 | F | 215922![]() |
- | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)] | |
106023 | M | 215923 | 18 | Japanese | Pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AA:IV.1(AA.IV.1 (69))]; PMID:30048690 [Fam.4:IV.1(P4.2)]; PMID:35087518 [Fam.16:IV.1(16.2)] |
106036 | F | 215924 | - | Japanese | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CC:II.1(CC.II.1 (73))]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:35087518 [18.1] |
106037 | M | 215925 | -,- | Japanese | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.DD:II.1(DD.II.1 (75))]; PMID:35087518 [Fam.19:II.1(19.2)] |
106043 | F | 215928 | - | Afro-American | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.HH:II.1(HH.II.1 (82))] |
106047 | F | 215930 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106048 | M | 210991 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:I.1(NN.I.1 (88))] |
106051 | F | 210991 | - | Caucasian | Pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.2(NN.II.1 (89))] |
106057 | F | 210991 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
106060 | F | 210991 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))] |
106068 | M | 215931 | -,-,- | Caucasian | Cryptogenic Organizing Pneumonia,Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
106069 | F | 215932 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))] |
106070 | F | 215933 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
106077 | M | 215934 | - | Caucasian | (unusual) Respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))] |
106094 | M | 215947 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))] |
106097 | M | 215948 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.WW:II.1(WW.II.1 (125))] |
106100 | F | 215949 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.DDD:II.1(DDD.II.1 (133))]; PMID:30048690 [Fam.3:II.1(P3.2)] |
106105 | M | 215950 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
106106 | F | 215951![]() |
- | Iranian | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.FF:II.1(626)]; PMID:36113674 [P5(II.1)] |
106109 | M | 215952![]() |
10 | Iranian | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
106144 | F | 215953 | - | Italian | Pneumonia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P8]; PMID:37419334 [P8(27)] |
106150 | F | 215955 | - | Turkish | Pneumonia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P10] |
106156 | M | 215035![]() |
- | Caucasian | Pneumonia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:III.3(P18)]; PMID:37419334 [P18(27)] |
106157 | M | 215956 | - | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:31432443 [P1] |
106164 | M | 215963 | - | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:31432443 [P8] |
106166 | M | 215965 | - | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:31432443 [P10] |
106167 | F | 215966 | - | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:31432443 [P11] |
106169 | F | 215968 | - | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:31432443 [P13] |
106170 | F | 215969 | - | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:31432443 [P14] |
106172 | F | 215971 | - | German | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.FI:660]; GRID:001142 [FR302] |
106200 | F | 215975![]() |
25,- | Finnish | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.2(693)]; PMID:36356849 [Fam.2:III.2(F2:III:2)] |
106209 | F | 215975![]() |
- | Finnish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
106242 | F | 215977 | - | Caucasian | Recurrent lower respiratory tract infections | PMID:29729943 [Fam.UU:II.4(UU.II.2 (106))]; PMID:29305966 [Fam.IV.2:II.2(II.1)] | |
106246 | F | 215977 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)] |
106259 | F | 215977 | -,- | Caucasian | Pneumonia,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)] |
106263 | M | 215978![]() |
14 | European/American | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.FY:II.3(786)]; PMID:38593810 [Fam.5:II.3(F5.II-3)] |
106264 | M | 215977 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.11(UU.IV.10 (119))]; PMID:29305966 [Fam.IV.2:IV.5(IV.11)] |
106279 | M | 215977 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.IV.2:V.1(V.1)] |
106304 | M | 215981![]() |
53 | Chinese (China) | Pneumocystis jiroveci pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])] |
106313 | F | 215982 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106314 | M | 215983 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P2] |
106320 | M | 215984 | - | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.EX:608]; PMID:36105815 [L196V] | |
106328 | F | 215987![]() |
- | Italian | Pneumonia | PMID:150198 [Fam.FR:I.2(731)]; PMID:37600787 [Fam.1:I.2(grandmother)] | |
106330 | F | 215987![]() |
30 | Italian | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.FR:II.2(733)]; PMID:37600787 [Fam.1:II.2(mother)] |
106332 | F | 215988![]() |
- | Recurrent lower respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:37419334 [P1(43)(II.2)]; PMID:34860543 [Fam.1:II.2(P1)] | |
106343 | M | 215993![]() |
27 | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.EU:I.1(603)]; PMID:36105815 [Fam.H67R-2:I.1(H67R/10)] | |
106346 | F | 215993![]() |
14 | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.EU:II.1(605)]; PMID:36105815 [Fam.H67R-2:II.1(H67R/11)] | |
106352 | M | 215998![]() |
- | (unusual) Respiratory tract infection | Activated p110-d syndrome 2 | PMID:34922003 [Fam.B:II.1(B1)] | |
106355 | F | 215999![]() |
- | British | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:34922003 [Fam.C:II.1(C1)] |
106358 | M | 216000 | - | (unusual) Respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31993940 [Patient(II.1)] | |
106363 | F | 216001![]() |
5,1 | Argentinian | Pneumonia,Recurrent lower respiratory tract infections | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
106367 | F | 216003![]() |
5 | Turkish | Pneumonia | Immunodeficiency 117 | PMID:36736301 [Fam.B:II.1(P2)] |
106393 | F | 216006![]() |
-,- | German | (unusual) Respiratory tract infection,Pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106406 | M | 216007 | 32 | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.FK:662]; PMID:35242131 [P1] | |
106409 | M | 216010![]() |
27 | Chinese (China) | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
106413 | M | 216011![]() |
- | Indian | Pneumonia | Hyper-IgE recurrent infection syndrome 4A | PMID:38578568 [Fam.1:II.2(index)] |
106419 | F | 216013![]() |
1 | Pneumonia | T-negative/B-positive SCID type 1 | PMID:7481768 [AP(II.1)] | |
106448 | F | 216016![]() |
0 | Japanese | Pneumonia | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.R:II.1(130)]; PMID:38652464 [Fam.1:II.1(Patient)] |
106453 | M | 216018 | - | Egyptian | Pneumonia | Immunodeficiency, common variable, 8 | PMID:32506362 [P2(II.1)] |
106456 | F | 216020![]() |
13,13 | Chinese (China) | (unusual) Respiratory tract infection,Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.FS:II.1(737)]; PMID:37705523 [Fam.1:II.1(index)] |
106459 | M | 216021![]() |
- | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband] | |
106464 | M | 216024 | - | Egyptian | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:32506362 [P5] |
106471 | M | 216025 | - | Egyptian | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:32506362 [P6] |
106474 | M | 216027 | - | Egyptian | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:32506362 [P9] |
106483 | F | 216036 | - | Egyptian | Pneumonia | Immunodeficiency, common variable, 8 | PMID:32506362 [P18] |
106491 | F | 216044![]() |
-,- | Pneumonia,Recurrent lower respiratory tract infections | Immunodeficiency 22 | PMID:22985903 [Fam.1:II.1(patient)] | |
106610 | F | 216089![]() |
- | Australian | (unusual) Respiratory tract infection | Agammaglobulinemia 8A | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:II.2(II.2)]; PMID:30323807 [Fam.1:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)] |
106611 | M | 216089![]() |
- | Australian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:I.1(I.1)]; PMID:29114388 [Fam.A:I.1(I.1)] |
106612 | F | 216089![]() |
- | Australian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:I.2(I.2)]; PMID:29114388 [Fam.A:I.2(I.2)] |
106637 | M | 216096![]() |
- | Danish | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32047491 [P3(II.1)] |
106669 | M | 216103 | - | Pneumocystis jiroveci pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.EE:565]; PMID:35281075 [5] | |
106679 | F | 216106![]() |
34,- | Dutch | Pneumonia,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.ET:II.2(600)]; PMID:36105815 [Fam.G64V:II.2(G64V/2)] |
106712 | M | 215871![]() |
- | Spanish | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.DM:I.1(470)]; PMID:36105815 [Fam.G386R:I.1(G386R/2)] |
106715 | F | 216119![]() |
- | Chinese (China) | Pneumonia | Immunodeficiency 22 | PMID:27087313 [Fam.1:V.1(P1)] |
106718 | M | 216119![]() |
- | Chinese (China) | Pneumonia | Immunodeficiency 22 | PMID:27087313 [Fam.1:V.2(P2)] |
106719 | F | 216119![]() |
- | Chinese (China) | Pneumonia | Immunodeficiency 22 | PMID:27087313 [Fam.1:V.3(P3)] |
106750 | F | 216121![]() |
0 | Palestinian | (unusual) Respiratory tract infection | T-negative/B-positive SCID type 1 | PMID:32921793 [Fam.B:II.1(P1-B)] |
106753 | F | 216122![]() |
0 | Chinese (China) | Pneumonia | T-negative/B-positive SCID type 1 | PMID:31309596 [Pt(II.2)] |
106767 | M | 216125 | - | Recurrent lower respiratory tract infections | Combined immunodeficiency 14B | PMID:31449058 [P1(II.1)] | |
106777 | F | 216128 | 1,1 | Brasilian | Pneumonia,Recurrent pneumonia | T-negative/B-positive SCID type 1 | PMID:30177960 [Fam.Fam2:IV.2(Pt.2)] |
106786 | M | 216137 | - | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.154] | |
106787 | M | 216138 | - | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.278] | |
106788 | F | 216139 | - | Pneumonia | Immunodeficiency, common variable, 8 | PMID:34619682 [P.71] | |
106789 | M | 216140 | - | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.282] | |
106794 | F | 216145![]() |
- | German | Pneumonia | Immunodeficiency, common variable, 14 | PMID:34619682 [P.263]; PMID:39059757 [Fam.1:II.2(P2)] |
106807 | F | 216145![]() |
-,14 | German | (unusual) Respiratory tract infection,Pneumonia | Immunodeficiency, common variable, 14 | PMID:34619682 [P.159]; PMID:39059757 [Fam.1:II.1(P1)] |
106812 | F | 216158 | - | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
106816 | F | 216162 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
106819 | M | 216163![]() |
- | Chinese (China) | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106912 | F | 216186 | 47 | Pneumonia | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
106932 | M | 216188![]() |
5 | Jewish | Increased inflammatory response | Adenosine deaminase 2 deficiency | PMID:25075848 [patient]; PMID:30139808 [Fam.1:II.5(P)] |
106953 | M | 216195 | - | Increased inflammatory response | NFKB1 insufficiency | PMID:150198 [Fam.GA:793]; PMID:38901617 [Fam.1:I.1(P1)] | |
106959 | M | 216200 | - | Lymphoid interstitial pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P17]; PMID:35677041 [Pt9] | |
107043 | M | 216282 | 4 | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:27444043 [P1] | |
107044 | M | 216283 | - | Pneumonia | Activated p110-delta syndrome 1 | PMID:28983403 [P1] | |
107045 | M | 216284 | - | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:28428270 [P1] | |
107046 | M | 216285 | 1 | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:28428270 [P2] | |
107096 | F | 216332 | - | Japanese | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
107100 | M | 216334![]() |
2 | Japanese | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.5:II.1(P5.1)] |
107103 | M | 216335![]() |
-,- | Chinese (China) | (unusual) Respiratory tract infection,Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt1(II.2)] |
107149 | M | 216363 | - | Iranian | Pneumonia | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.3(P1)] |
107150 | F | 216363 | 0 | Iranian | Pneumonia | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.4(P2)] |
107156 | F | 216365![]() |
2 | Turkish | Pneumonia | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.B:II.2(Patient 2)] |
107161 | F | 216366![]() |
10 | Sri Lankan Tamil | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:26607704 [P1(II.1)] |
107212 | F | 216374 | 1,0 | Arab | (unusual) Respiratory tract infection,Pneumonia | Combined immunodeficiency 37 | PMID:31775018 [Patient] |
107242 | M | 216394![]() |
9,7 | Caucasian | Pneumonia,Pulmonary eosinophilic infiltration | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33651637 [Patient 3]; PMID:30809743 [Fam.2:II.2(Pt#3)] |
107245 | M | 216394![]() |
2 | Caucasian | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Fam.2:II.1(Pt#2)] |
107246 | M | 216395 | - | Caucasian | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Pt#1] |
107247 | F | 216396 | -,- | (unusual) Respiratory tract infection,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:001501 [case] | |
107248 | F | 216397 | 2,2 | Kuwaiti | (unusual) Respiratory tract infection,Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:001502 [Patient] |
107249 | F | 216398![]() |
-,- | Argentinian | (unusual) Respiratory tract infection,Lymphoid interstitial pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt7]; PMID:29378236 [Fam.1:Patient 1] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).