Recurrent pneumonia
Basic details
Preferred term: Recurrent pneumonia
Alt. terms: Multiple pulmonary infections | Pneumonia, recurrent | Pneumonia, recurrent episodes | Pulmonary infection | Pulmonary infections | pulmonary infections, recurrent | Recurrent pneumonia | Recurrent pulmonary infections
HPO term: Recurrent pneumonia
HPO code: HP:0006532
GenIA ID: 4848
Last updated on: 2021-08-02 21:50:33
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Note: Recurrent pneumonia is defined as two or more episodes in a single year, or at least three episodes ever, with radiographic clearing of densities between occurrences.
Hierarchical classification
TERM
Recurrent pneumonia
CHILD terms
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | - | German | 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 | German | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F003:P003] | |
101021 | M | 210359 | 20 | German | 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] | |
101024 | F | 210927 | 33 | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F009:P009] | ||
101025 | M | 210937 | 43 | 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 | 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 | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101058 | M | 210120 | - | Pneumonia | Immunodeficiency 31C | PMID:34390440 [CMC21] | |
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)] |
101076 | F | 210226 | 9 | German | Pneumonia | PMID:34975878 [Fam.F041:P041] | |
101077 | F | 210211 | 15 | German | 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] | ||
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] |
101090 | M | 211257 | 35 | 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![]() |
39 | German | 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] | |
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 | 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 | German | Pneumonia | PMID:34975878 [Fam.F080:P080] | |
101132 | M | 210304 | 5 | German | Pneumonia | PMID:34975878 [Fam.F081:P081] | |
101133 | M | 210896 | 34 | Pneumonia | Immunodeficiency, common variable, 13 | PMID:34975878 [Fam.F082:P082] | |
101134 | F | 210901 | 37 | Pneumonia | PMID:34975878 [Fam.F083:P083] | ||
101145 | M | 211221![]() |
- | German | 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] |
101155 | M | 210235 | - | German | 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 | 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] | ||
101183 | F | 210282![]() |
27 | German | 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![]() |
12 | German | 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 | 5 | Arab | Pneumonia | PMID:22608502 [Fam.A:I.1] | |
101260 | M | 212144 | 2 | Iranian | 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 | 5 | Arab | Pneumonia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.3(P1)]; PMID:26707784 [P1] |
101312 | M | 212149 | - | Lebanese | Pneumonia | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.1(P2)]; PMID:26707784 [P16] |
101343 | M | 210134 | - | Italian | 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 | 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] |
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 | 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![]() |
- | Caucasian | 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)] |
101403 | M | 210189![]() |
- | German | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
101410 | F | 210902 | - | German | 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 | Pneumonia | Immunodeficiency, common variable, 8 | PMID:26206937 [P7] |
101448 | M | 210496 | - | Pneumonia | PMID:34975878 [Fam.F148:P148] | ||
101452 | M | 212394 | - | Iranian | 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 | 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 | 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 | 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 | 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)] |
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] |
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 | 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 | 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] | ||
101587 | M | 212604![]() |
- | Scottish | Recurrent viral pneumonia | ARPC1B deficiency | PMID:28368018 [Fam.2:II.1(P2)]; PMID:30771411 [P10(II.1)]; PMID:34673575 [Fam.2:II.3(P2)] |
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] | |
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 | - | 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] |
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 | - | 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)] |
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)] |
101717 | F | 210260![]() |
- | Caucasian | 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)] |
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 | 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 | - | North American | Pneumonia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
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 | 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![]() |
- | Argentinian | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101776 | M | 210912 | - | 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)] |
101792 | M | 210991 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9(92))] |
101794 | F | 211030 | - | Italian | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
101797 | M | 211108 | - | Caucasian | 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 | 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![]() |
- | Caucasian | 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 | - | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
101803 | F | 211221![]() |
60 | German | 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)] |
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] | ||
101833 | M | 210887 | - | 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] | |
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 | 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 | - | Pneumonia | PMID:34975878 [Fam.F337:P337] | ||
101915 | F | 211935 | - | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] | |
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 | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.1(A.II.1)] |
101962 | M | 212237![]() |
- | Sudanese | 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 | Pneumonia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.6(D.II.4)]; PMID:34390440 [HIES52] |
101975 | F | 214053![]() |
- | Turkish | 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] |
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 | 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 | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES50] |
102131 | F | 214351![]() |
1 | Sudanese | 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 | 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 | 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 | German | 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] |
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 | Afghanistani | 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] |
102277 | M | 214930![]() |
- | North American | Pneumonia | OAS1 immunodeficiency | PMID:34145065 [P2(II.1)] |
102357 | M | 214937![]() |
- | German | Pneumonia | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.A:II.1(P1)] |
102397 | F | 214944![]() |
1 | Saudi | Pneumonia | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.5(P6)] |
102410 | F | 214947![]() |
1 | South Asian | Pneumonia | Hyper-IgE recurrent infection syndrome 4B | PMID:28747427 [Fam.A:II.3(P1)] |
102421 | M | 214949![]() |
0 | French | 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![]() |
- | French | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.B:II.3(P5)] |
102436 | F | 214956![]() |
- | Bulgarian | Pneumonia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:III.1(P7)] |
102439 | M | 214956![]() |
- | Bulgarian | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
102444 | M | 214957![]() |
- | Slovak | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
102449 | F | 214958![]() |
- | Mexican/Salvadoran | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
102453 | F | 214959![]() |
- | Turkish | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.F:II.2(P10)] |
102460 | M | 214960![]() |
- | European | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.G:II.1(P11)] |
102463 | M | 214961![]() |
- | European | 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)] |
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)] |
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)] |
102677 | M | 214980![]() |
1 | Pakistani | Recurrent lower respiratory tract infections | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
102775 | F | 214986![]() |
- | Afro-Caribbean | 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 | 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)] |
102815 | M | 214994 | - | Recurrent lower respiratory tract infections | Immunodeficiency 8 | PMID:34913575 [Patient] | |
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![]() |
- | Portuguese | 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 | 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)] |
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] | |
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)] |
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] |
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![]() |
- | French | 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![]() |
- | French | 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 | 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 | 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 | 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 | 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 | 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 | 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 | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J053:Proband]; PMID:21288777 [P639A] |
103641 | F | 215180 | - | Caucasian | 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 | 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 | 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 | 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 | 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 | 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 | 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![]() |
- | Finnish | 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] |
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] | |
104003 | F | 215324 | - | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P7] | |
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 | 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 | 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 | 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 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [del371-380]; PMID:23584561 [T3-14] | |
104353 | M | 215492 | 18 | Asian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Cr1] |
104354 | F | 215493 | - | Caucasian | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Co1] |
104355 | M | 215494 | 0 | 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![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:II.1(proband)] | |
104385 | F | 215517![]() |
- | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:I.2(mother)] | |
104386 | M | 215518![]() |
- | Ivorian | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:37080116 [P19(II.1)] |
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 | European | 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)] |
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)] |
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![]() |
- | Pneumonia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.B:II.2(P2)] | |
104630 | M | 215560![]() |
- | 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![]() |
- | Lebanese | Pneumonia | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104678 | F | 215569![]() |
0 | Iranian | Pneumonia | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.2:II.2(P2)] |
104787 | M | 215573![]() |
40 | Pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
104838 | M | 215578![]() |
- | Caucasian | 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 | 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 | 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 | 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 | 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 | 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![]() |
- | Dutch | 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 | 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)] |
105034 | F | 215628![]() |
- | Finnish | Recurrent lower respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
105043 | F | 215630![]() |
- | Caucasian | 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 | 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![]() |
- | Israeli | 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)] |
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 | - | 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![]() |
- | 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 | 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 | 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 | 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)] |
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)] |
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)] |
105231 | M | 215671![]() |
1 | Finnish | 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)] |
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)] |
105248 | F | 215676 | 14 | Turkish | Pneumonia | Immunodeficiency, common variable, 8 | PMID:28956255 [P2(II.1)] |
105249 | M | 215676 | - | Turkish | Recurrent viral 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 | Pneumonia | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
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 | 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 | 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 | European | 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 | 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 | - | European | 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)] |
105335 | U | 215697 | - | European | 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] |
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 | Omani | 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)] |
105400 | M | 215751 | - | Turkish | 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] | |
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)] |
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] |
105477 | F | 215776![]() |
- | European | Pneumonia | PMID:37301410 [Fam.P1:I.2] | |
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 | - | Turkish | 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 | Spanish | 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] | |
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)] |
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)] | |
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 | Pneumonia | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
105740 | U | 215845 | - | 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 | - | 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] |
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] |
105779 | F | 215872 | - | Turkish | Pneumonia | NFKB1 insufficiency | PMID:32278790 [CC.I.1]; PMID:150198 [Fam.DN:474] |
105793 | M | 215877![]() |
- | Spanish | Pneumonia | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:I.2(1.2)] |
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)] |
105847 | M | 215890![]() |
7 | Spanish | Pneumonia | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.5:II.1(5.1)] |
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 | 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![]() |
- | French | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:II.2(P1)] |
105918 | F | 215908![]() |
- | Moroccan | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:I.1(P3)] |
105921 | F | 215908![]() |
3 | Moroccan | 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 | 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![]() |
- | Colombian/Swiss | 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 | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105986 | F | 215921![]() |
- | 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 | 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 | 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 | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
106060 | F | 210991 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))] |
106068 | M | 215931 | -,- | Caucasian | Recurrent lower respiratory tract infections,Recurrent pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
106069 | F | 215932 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))] |
106070 | F | 215933 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
106094 | M | 215947 | - | Caucasian | 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 | 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 | Pneumonia | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.2(693)]; PMID:36356849 [Fam.2:III.2(F2:III:2)] |
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 | 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 | 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)] |
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)] | |
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)] | |
106363 | F | 216001![]() |
1 | Argentinian | 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 | 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] | |
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 | Chinese (China) | 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![]() |
- | Recurrent lower respiratory tract infections | Immunodeficiency 22 | PMID:22985903 [Fam.1:II.1(patient)] | |
106637 | M | 216096![]() |
- | Danish | Pneumonia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32047491 [P3(II.1)] |
106679 | F | 216106![]() |
- | Dutch | 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)] |
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![]() |
- | German | 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] | |
106912 | F | 216186 | 47 | Pneumonia | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
107044 | M | 216283 | - | Pneumonia | Activated p110-delta syndrome 1 | PMID:28983403 [P1] | |
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) | 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 | 0 | Arab | Pneumonia | Combined immunodeficiency 37 | PMID:31775018 [Patient] |
107242 | M | 216394![]() |
7 | Caucasian | Pneumonia | 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 | - | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:001501 [case] | |
107248 | F | 216397 | 2 | Kuwaiti | Pneumonia | Hyper-IgE recurrent infection syndrome 1 | GRID:001502 [Patient] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).