Bronchitis
Basic details
Preferred term: Bronchitis
Alt. terms: inflammation of the bronchi
HPO term: Bronchitis
HPO code: HP:0012387
GenIA ID: 63
Last updated on: 2024-04-25 14:48:58
Cross ref. with other ontologies
NCIT: C2911
MESH: D001991
EFO: -
OAE: -
SNOMEDCT: -
ICD10: J40
Description
Inflammation and swelling of the large airways in the lung including the trachea and upper bronchial tubes (from the primary bronchi to the tertiary bronchi). Bronchitis can be both acute and chronic. Various episodes of bronchitis may also occur (recurrent bronchitis). Bronchitis can affect people of all ages, though it’s most common in older children and adults.
Hierarchical classification
PARENT terms
TERM
Bronchitis
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] | |
101019 | F | 210316 | 6 | German | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F004:P004] | |
101020 | F | 210008![]() |
28,27 | German | (unusual) Respiratory tract infection,Bronchitis | NFKB1 insufficiency | PMID:34975878 [Fam.F005:P005]; PMID:32278790 [Fam.AU:II.3(II.3)]; PMID:29403474 [Patient 28 (11)]; PMID:150198 [Fam.AM:II.4(157)]; PMID:27461466 [Fam.199_01:28] |
101021 | M | 210359 | 20 | German | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F006:P006] | |
101022 | M | 210482 | 16,16 | German | Bronchitis,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F007:P007] | |
101023 | M | 210731 | 51 | German | Lung disease | PMID:34975878 [Fam.F008:P008] | |
101024 | F | 210927 | 33,33 | Bronchitis,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 | 20,20 | Bronchitis,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 | Bronchitis,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] |
101061 | F | 211392 | 19 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F031:P031] | ||
101063 | M | 210118 | -,- | German | (unusual) Respiratory tract infection,Bronchitis | PMID:34975878 [Fam.F411:P411]; PMID:34390440 [CMC01] | |
101065 | F | 211364 | -,- | (unusual) Respiratory tract infection,Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F033:P033] | |
101069 | F | 211370![]() |
- | Turkish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F039:P039]; PMID:32278790 [Fam.AJ:III.2(III.2)]; PMID:150198 [Fam.BZ:III.2(381)] |
101077 | F | 210211 | -,- | German | Bronchitis,Lung disease | PMID:34975878 [Fam.F043:P043] | |
101078 | F | 211301 | - | Bronchitis | PMID:34975878 [Fam.F044:P044] | ||
101080 | F | 211150 | 61 | Bronchitis | PMID:34975878 [Fam.F046:P046] | ||
101081 | F | 211315 | 22 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F047:P047] | ||
101082 | F | 211226 | - | (unusual) Respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
101084 | F | 211225 | - | Bronchitis | PMID:34975878 [Fam.F050:P050] | ||
101085 | F | 210196 | 36 | Bronchitis | PMID:34975878 [Fam.F051:P051] | ||
101087 | M | 211335 | - | German | Bronchitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F053:P053] |
101088 | M | 211560 | 40,38 | German | (unusual) Respiratory tract infection,Bronchitis | PMID:34975878 [Fam.F054:P054] | |
101095 | M | 210286 | 4 | Bronchitis | PMID:34975878 [Fam.F060:P060] | ||
101097 | F | 211399 | 44 | Bronchitis | PMID:34975878 [Fam.F061:P061] | ||
101115 | F | 210778 | - | Caucasian | Bronchitis | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101116 | M | 210282![]() |
19 | German | (unusual) Respiratory tract infection | 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 | 35 | Bronchitis | Thrombophilia due to Factor V Leiden | PMID:31057532 [Fam.C:II.1] | |
101119 | M | 210264 | 19 | Bronchitis | PMID:34975878 [Fam.F070:P070] | ||
101120 | M | 210221 | 44 | German | Bronchitis | PMID:34975878 [Fam.F071:P071] | |
101122 | M | 210197![]() |
- | Italian | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
101123 | M | 210255 | 14 | Bronchitis | PMID:34975878 [Fam.F074:P074] | ||
101124 | F | 210216 | - | German | Bronchitis | PMID:34975878 [Fam.F075:P075] | |
101127 | F | 210318 | 33 | German | Bronchitis | 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 | 10 | German | Bronchitis | PMID:34975878 [Fam.F078:P078] | |
101130 | F | 210465 | 21 | German | Bronchitis | PMID:34975878 [Fam.F079:P079] | |
101131 | F | 210337 | 35 | German | Bronchitis | PMID:34975878 [Fam.F080:P080] | |
101132 | M | 210304 | 2 | German | Bronchitis | PMID:34975878 [Fam.F081:P081] | |
101143 | F | 211219 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F088:P088] | ||
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)] |
101154 | F | 210005 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F097:P097] | ||
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] |
101167 | M | 211470![]() |
- | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)] | |
101171 | M | 210012![]() |
1 | Dutch | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 20 | PMID:25926555 [Patient(II.1)] |
101174 | M | 210012![]() |
- | Dutch | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 20 | PMID:25926555 [Fam.Patient:I.1(father)] |
101177 | F | 212111 | 1 | Bronchitis | PMID:34975878 [Fam.F407:P407] | ||
101178 | M | 210542 | 17 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F114:P114] | ||
101183 | F | 210282![]() |
27 | German | (unusual) Respiratory tract infection | 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)] |
101186 | F | 211471 | - | Bronchitis | PMID:34975878 [Fam.F118:P118] | ||
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 | - | Bronchitis | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:II.3(P123)]; PMID:30941118 [Fam.1404:II.3(Pt#22)] | |
101202 | F | 211487 | - | Bronchitis | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:III.1(P124)]; PMID:30941118 [Fam.1404:III.1(Pt#23)] | |
101203 | M | 211488 | - | Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F125:P125] | |
101204 | M | 211492 | - | German | Bronchitis | PMID:34975878 [Fam.F126:P126] | |
101214 | M | 210014![]() |
19 | German | (unusual) Respiratory tract infection | 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)] |
101235 | M | 210135 | 6 | Arab | Lung disease | PMID:22608502 [Fam.A:I.1] | |
101260 | M | 212144 | - | 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] |
101296 | M | 210135 | 6 | Arab | Lung disease | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.3(P1)]; PMID:26707784 [P1] |
101312 | M | 212149 | 11 | Lebanese | Lung disease | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.1(P2)]; PMID:26707784 [P16] |
101343 | M | 210134 | - | Italian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3] |
101356 | F | 210135 | - | Arab | Lung disease | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2] |
101365 | M | 212160 | - | North American | Bronchitis | Immunodeficiency, common variable, 8 | PMID:27379089 [P14] |
101369 | M | 212161 | - | Turkish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:30479781 [P1(V.1)] |
101371 | M | 212161 | 1,- | Turkish | (unusual) Respiratory tract infection,Bronchitis | Immunodeficiency, common variable, 8 | PMID:30479781 [Fam.P1:V.2(P2)] |
101382 | M | 210641 | 20 | German | Bronchitis | 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 | - | German | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F134:P134]; PMID:32278790 [BN.I.1]; PMID:150198 [Fam.CZ:445]; PMID:36105815 [Y90S] |
101401 | F | 210205![]() |
17,- | Caucasian | Bronchitis,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.17(A.II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)] |
101402 | M | 210690 | - | German | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F138:P138] |
101403 | M | 210189![]() |
- | German | 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] |
101425 | M | 210205![]() |
-,- | Caucasian | Bronchitis,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)] |
101443 | M | 212175 | - | North American | Lung disease | Immunodeficiency, common variable, 8 | PMID:26206937 [P7] |
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 | Bronchitis | 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] |
101469 | F | 210220![]() |
- | German | (unusual) Respiratory tract infection | 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)] |
101479 | F | 210314![]() |
- | German | Lung disease | 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)] |
101488 | M | 210401![]() |
- | German | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
101527 | M | 210728 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F175:P175] | ||
101529 | M | 211278 | 7 | Bronchitis | PMID:34975878 [Fam.F176:P176] | ||
101543 | F | 210011 | 23 | Bronchitis | PMID:34975878 [Fam.F179:P179] | ||
101553 | M | 210256 | - | German | Bronchitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
101566 | F | 210575![]() |
- | German | (unusual) Respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN94]; PMID:18835223 [UPN94]; GRID:000796 [UPN94(II.1)] |
101569 | F | 210220![]() |
- | German | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F192:P192]; PMID:32278790 [AH.I.1]; PMID:150198 [Fam.AB:IV.3(097)]; PMID:31857261 [Patient 5]; GRID:001142 [FR023] |
101575 | M | 210900 | - | German | (unusual) Respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2] |
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)] |
101588 | M | 210935 | 42 | Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F206:P206] | |
101596 | M | 212618![]() |
1 | Jewish | Recurrent lower respiratory tract infections | ARPC1B deficiency | PMID:29127144 [P1(II.1)] |
101628 | F | 210955 | 17 | Caucasian | Lung disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:I.2(128)]; PMID:34975878 [Fam.F217:P217] |
101630 | M | 211089![]() |
-,- | German | Bronchitis,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 | Bronchitis,Recurrent lower respiratory tract infections | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
101651 | M | 210939 | 21 | Bronchitis | PMID:34975878 [Fam.F226:P226] | ||
101659 | M | 211166 | - | Bronchitis | PMID:34975878 [Fam.F228:P228] | ||
101667 | M | 212631![]() |
0 | Moroccan | Bronchitis | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
101673 | M | 211156 | -,- | Bronchitis,Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
101697 | F | 211447 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F243:P243] | ||
101713 | F | 212643 | - | Jordanian | (unusual) Respiratory tract infection | Agammaglobulinemia 4 | PMID:25893637 [Fam.P1:II.5(P2)] |
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)] |
101720 | F | 210022 | - | Iranian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.2(P5)]; PMID:25539626 [P1(II.1)]; PMID:26707784 [P12] |
101731 | M | 210300![]() |
1 | North American | Bronchitis | 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)] |
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 | 7 | North American | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
101756 | F | 210025 | 5 | North American | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)] |
101767 | F | 210788 | 44 | Bronchitis | PMID:34975878 [Fam.F249:P249] | ||
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)] |
101790 | M | 210960 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F254:P254] | ||
101792 | M | 210991 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9(92))] |
101793 | M | 211028 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F256:P256] | ||
101794 | F | 211030 | - | Italian | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
101795 | M | 211075 | 2 | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 10 | PMID:30941118 [Fam.981:II.5(Pt#28)] | |
101797 | M | 211108 | - | Caucasian | 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] | |
101802 | F | 211221![]() |
- | German | Bronchitis | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
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)] |
101804 | M | 211221![]() |
2 | German | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:33995346 [Fam.A:IV.1(Pat3)]; PMID:150198 [Fam.DV:IV.1(533)]; PMID:36105815 [Fam.Y350C:IV.1(Y350C/3)] |
101808 | F | 211441 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F265:P265] | |
101810 | F | 211516 | 24 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F268:P268] | ||
101812 | F | 211521 | - | Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F271:P271] | |
101818 | M | 211539 | - | Bronchitis | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F281:P281] | |
101819 | F | 211386 | -,54 | Bronchitis,Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:31057532 [Fam.F:I.2] | |
101826 | F | 211561 | 33 | German | Bronchitis | PMID:34975878 [Fam.F290:P290] | |
101827 | M | 211564 | 25 | Bronchitis | PMID:34975878 [Fam.F291:P291] | ||
101829 | M | 211577 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F293:P293] | ||
101833 | M | 210887 | -,- | Bronchitis,Recurrent lower respiratory tract infections | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
101840 | F | 211591 | - | Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
101846 | F | 211604 | - | Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F306:P306] | |
101849 | F | 211636 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F311:P311] | |
101855 | F | 211657 | - | Bronchitis | PMID:34975878 [Fam.F317:P317] | ||
101856 | F | 211487 | 0 | Bronchitis | Immunodeficiency, common variable, 10 | PMID:30941118 [Fam.1404:III.2(Pt#24)] | |
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)] |
101902 | M | 211775 | 20 | Bronchitis | PMID:34975878 [Fam.F333:P333] | ||
101911 | F | 211833 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F337:P337] | ||
101915 | F | 211935 | -,- | Bronchitis,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] | |
101922 | F | 211937 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F342:P342] | ||
101950 | F | 212045 | 11 | Bronchitis | PMID:34975878 [Fam.F372:P372] | ||
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)] |
101973 | F | 214053![]() |
- | Turkish | (unusual) Respiratory tract infection | 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] |
102057 | M | 214275 | - | Iranian | (unusual) Respiratory tract infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES25] |
102092 | F | 214311 | - | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES48] | |
102107 | M | 214329 | - | Portuguese | (unusual) Respiratory tract infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES26] |
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)] |
102182 | F | 214681 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:III.1(46)] |
102216 | F | 214916![]() |
- | Belgian | Bronchitis | Severe congenital neutropenia 11 | PMID:32325141 [Patient(II.1)] |
102222 | M | 214917 | 28,28 | German | Bronchitis,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102225 | M | 214920 | - | Romanian | Lung disease | Immunodeficiency 40 | PMID:35486341 [P063] |
102250 | M | 214924![]() |
1 | Afghanistani | Recurrent lower respiratory tract infections | ARPC1B deficiency | PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7] |
102270 | F | 214928![]() |
- | Japanese | Bronchitis | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
102274 | F | 214929![]() |
- | German | Bronchitis | OAS1 immunodeficiency | PMID:34145065 [P1(II.2)] |
102277 | M | 214930![]() |
- | North American | Bronchitis | OAS1 immunodeficiency | PMID:34145065 [P2(II.1)] |
102281 | M | 214931![]() |
- | North American | Bronchitis | OAS1 immunodeficiency | PMID:34145065 [P3(II.2)] |
102285 | F | 214932![]() |
- | North American | Bronchitis | OAS1 immunodeficiency | PMID:34145065 [P4(II.2)] |
102374 | M | 214944![]() |
- | Saudi | (unusual) Respiratory tract infection | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.I(P7)] |
102396 | F | 214944![]() |
- | Saudi | (unusual) Respiratory tract infection | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.4(P5)] |
102397 | F | 214944![]() |
- | Saudi | (unusual) Respiratory tract infection | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.5(P6)] |
102398 | F | 214944![]() |
- | Saudi | (unusual) Respiratory tract infection | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.2(P4)] |
102410 | F | 214947![]() |
1 | South Asian | (unusual) Respiratory tract infection | 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)] |
102427 | M | 214950![]() |
10 | French | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.B:II.3(P5)] |
102433 | M | 214951![]() |
- | Irish Traveller | (unusual) Respiratory tract infection | Immunodeficiency 54 | PMID:22354167 [Fam.B:II.1(P2.1)] |
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![]() |
0 | 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![]() |
9 | 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)] |
102507 | F | 214948![]() |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.9(P2)]; PMID:22354167 [Fam.A:IV.10(P1.2)] |
102509 | M | 214948![]() |
- | Irish Traveller | (unusual) Respiratory tract infection | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)] |
102511 | M | 214948![]() |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.14(P4)]; PMID:22354167 [Fam.A:IV.14(P1.4)] |
102512 | F | 214948![]() |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.15]; PMID:22354167 [Fam.A:IV.15(P1.5)] |
102530 | M | 214966![]() |
-,- | Japanese | (unusual) Respiratory tract infection,Bronchitis | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
102659 | F | 214979![]() |
0 | Moroccan | (unusual) Respiratory tract infection | Immunodeficiency 8 | PMID:23522482 [P3(V.3)] |
102660 | M | 214979![]() |
1 | Moroccan | (unusual) Respiratory tract infection | Immunodeficiency 8 | PMID:23522482 [Fam.P3:V.1(P1)] |
102677 | M | 214980![]() |
1 | Pakistani | Recurrent lower respiratory tract infections | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
102775 | F | 214986![]() |
- | Afro-Caribbean | 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)] |
102804 | M | 214991![]() |
7 | North American | (unusual) Respiratory tract infection | Immunodeficiency 8 | PMID:25073507 [Fam.P1:II.1(P2)] |
102815 | M | 214994 | - | Recurrent lower respiratory tract infections | Immunodeficiency 8 | PMID:34913575 [Patient] | |
102819 | M | 214995 | 0 | (unusual) Respiratory tract infection | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency | PMID:14523047 [Patient(II.1)] | |
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)] |
102913 | M | 215014 | 0 | (unusual) Respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P3] | |
102934 | F | 215035![]() |
- | Caucasian | Bronchitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P23]; PMID:33464451 [P14(III.1)]; PMID:37419334 [P23(22)] |
102958 | F | 215020 | - | (unusual) Respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [Fam.P8:I.1(P30)] | |
102984 | F | 215074![]() |
- | European/American | (unusual) Respiratory tract infection | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
103005 | M | 215081![]() |
- | North American | Chronic bronchitis | ?Chronic infections and chronic pelvic pain | PMID:23861857 [Patient(II.1)] |
103051 | M | 215095![]() |
- | Finnish | Recurrent lower respiratory tract infections | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
103061 | M | 215095![]() |
-,- | Finnish | (unusual) Respiratory tract infection,Chronic bronchitis | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.9(P2)] |
103128 | F | 215101![]() |
18 | Saudi | Recurrent lower respiratory tract infections | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.5] |
103132 | M | 215102![]() |
- | Emirati | (unusual) Respiratory tract infection | Seizures, cortical blindness, microcephaly syndrome | PMID:26463574 [Fam.MC36500:IV.6(IV.3)] |
103292 | F | 215114 | - | German | Bronchitis | 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)] |
103604 | M | 215170![]() |
- | Asian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J016:II.2(Proband)]; PMID:21288777 [Fam.5:II.1(Proband)] |
103612 | M | 215171![]() |
- | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.4(Brother2)]; PMID:28587312 [P32]; PMID:21288777 [Fam.6:II.4(brother)] |
103622 | M | 215175![]() |
- | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.3(Proband)]; PMID:21288777 [Fam.7:II.3(Proband)] |
103626 | F | 215175![]() |
- | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.2(Sister2)]; PMID:21288777 [Fam.7:II.2(sister2)] |
103635 | M | 215177![]() |
- | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:I.2(Proband)]; PMID:21288777 [Fam.12:I.1(proband)] |
103640 | M | 215179 | - | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J053:Proband]; PMID:21288777 [P639A] |
103641 | F | 215180 | - | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J054:Proband]; PMID:21288777 [S465A] |
103648 | F | 215182![]() |
- | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:I.1(Proband)]; PMID:21288777 [Fam.8:I.2(mother)]; PMID:23584561 [T3-1] |
103655 | F | 215184![]() |
- | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:II.1(Daughter)]; PMID:21288777 [Fam.9:II.1(Daughter)] |
103656 | M | 215184![]() |
- | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:I.1(Proband)]; PMID:21288777 [Fam.9:I.1(proband)] |
103663 | F | 215187![]() |
- | Latino | Lung disease | 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] |
103667 | M | 215188![]() |
- | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J112:I.1(Proband)]; PMID:21288777 [Fam.11:I.1(proband)]; PMID:23584561 [T3-7] |
103716 | M | 215229 | - | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J013:Proband]; PMID:21288777 [F384L] |
103877 | F | 215266![]() |
1 | 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] |
104004 | F | 215325 | - | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P8] | |
104307 | F | 215451![]() |
- | North American | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:19483664 [Patient(II.1)]; PMID:26292779 [Co2] |
104349 | M | 215488 | - | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [del371-380]; PMID:23584561 [T3-14] | |
104351 | M | 215490 | - | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H1] |
104354 | F | 215493 | - | Caucasian | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Co1] |
104355 | M | 215494 | 2 | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H8]; PMID:22126402 [case] | |
104383 | M | 215517![]() |
- | Lung disease | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:II.1(proband)] | |
104385 | F | 215517![]() |
- | Lung disease | 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)] |
104438 | F | 215527![]() |
- | Middle Eastern | Recurrent bronchitis | Early-onset atopic inflammation | PMID:36884218 [Fam.A:II.1(P1)] |
104444 | F | 215528![]() |
1 | Spanish | Bronchitis | 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 | (unusual) Respiratory tract infection | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
104607 | M | 215556![]() |
- | (unusual) Respiratory tract infection | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.A:II.3(P1)] | |
104625 | M | 215559![]() |
- | Bronchitis | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.B:II.2(P2)] | |
104671 | F | 215568![]() |
2 | Lebanese | (unusual) Respiratory tract infection | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104678 | F | 215569![]() |
- | Iranian | (unusual) Respiratory tract infection | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.2:II.2(P2)] |
104787 | M | 215573![]() |
- | Lung disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
104838 | M | 215578![]() |
12,- | Caucasian | Bronchitis,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56] |
104845 | F | 215579![]() |
- | European | (unusual) Respiratory tract infection | 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)] |
104916 | M | 215613![]() |
- | Caucasian | Lung disease | 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![]() |
- | Bronchitis | Immunodeficiency, common variable, 14 | PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)] | |
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![]() |
- | Dutch | (unusual) Respiratory tract infection | 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![]() |
39 | Dutch | Bronchitis | 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![]() |
- | Dutch | Lung disease | 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)] | |
104970 | M | 215622![]() |
50 | Dutch | (unusual) Respiratory tract infection | 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)] |
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)] |
105028 | F | 215627 | 18 | French | Bronchitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10] |
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))] |
105045 | M | 215631![]() |
- | Caucasian | Bronchitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10] |
105050 | F | 215633 | - | Recurrent lower respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Patient 2] | |
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![]() |
11 | Israeli | (unusual) Respiratory tract infection | 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)] |
105108 | M | 215643![]() |
- | Caucasian | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AB:I.2(I.2)]; PMID:29403474 [Fam.(7):I.1(Father)]; PMID:27338827 [Fam.1:I.2(I-2)]; PMID:150198 [Fam.AD:I.1(115)] |
105129 | M | 215647![]() |
- | Lung disease | 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)] | |
105131 | M | 215648 | - | Italian | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BG.I.1]; PMID:29403474 [Patient 1 (6)]; PMID:27923702 [Patient 1]; PMID:27555455 [Patient 1]; PMID:150198 [Fam.AN:160] |
105142 | M | 210314![]() |
- | German | Lung disease | 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)] |
105143 | F | 215650 | 30 | German | Recurrent bronchitis | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
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)] |
105185 | M | 215663 | 7 | (unusual) Respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7] | |
105212 | F | 215666![]() |
50 | Finnish | Bronchitis | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)] |
105220 | F | 215666![]() |
15 | Finnish | Bronchitis | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)] |
105226 | M | 215671![]() |
- | Finnish | (unusual) Respiratory tract infection | PMID:32278790 [Fam.F2:I.1(I.1)]; PMID:28115215 [Fam.2:I.1(F2.I-1)]; PMID:150198 [Fam.AR:I.1(187)]; PMID:36356849 [Fam.5:I.1(F5:I:1)] | |
105231 | M | 215671![]() |
1 | Finnish | (unusual) Respiratory tract infection | 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)] |
105239 | F | 215672![]() |
7 | Finnish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.8(II.6)]; PMID:28115215 [Fam.3:II.6(F3.II-6)]; PMID:150198 [Fam.AS:II.14(209)]; PMID:36356849 [Fam.3:II.14(F3:II:14)]; PMID:36892687 [II:7(II.7)]; PMID:38593810 [Fam.1:II.13(F1.II-7)] |
105245 | M | 215674![]() |
- | Caucasian | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [Fam.AN:II.2(II.1)]; PMID:29403474 [Fam.(12):I.1(P9.1)]; PMID:28983403 [Fam.1:I.1(P9.1)]; PMID:150198 [Fam.AT:II.1(223)] |
105246 | M | 215674![]() |
- | Caucasian | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AN:III.2(III.1)]; PMID:29403474 [Fam.(12):II.1(P9.2)]; PMID:28983403 [Fam.1:II.1(P9.2)]; PMID:150198 [Fam.AT:III.2(226)] |
105248 | F | 215676 | 1 | Turkish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:28956255 [P2(II.1)] |
105256 | F | 210008![]() |
- | German | Lung disease | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105273 | F | 215682 | 18 | North American | Lung disease | CTLA4 haploinsufficiency with autoimmune infiltration | GRID:000111 [Patient(I.1)] |
105296 | F | 215686![]() |
- | European | Lung disease | 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)] |
105308 | F | 215687![]() |
- | European | Lung disease | 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 | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [E.II.1]; PMID:29477724 [Fam.E:II.1(II:1)]; PMID:150198 [Fam.AY:II.2(264)]; PMID:36105815 [Fam.I281M:II.2(I281M/1)] |
105314 | F | 215689 | - | European | (unusual) Respiratory tract infection | 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] |
105328 | F | 215693![]() |
- | European | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.L:II.1(II.1)]; PMID:29477724 [Fam.L:II.1(II:1)]; PMID:150198 [Fam.BF:II.1(283)] |
105331 | M | 215693![]() |
- | European | (unusual) Respiratory tract infection | PMID:32278790 [Fam.L:II.2(II.2)]; PMID:29477724 [Fam.L:II.2(II:2)]; PMID:150198 [Fam.BF:II.2(284)] | |
105332 | U | 215694 | - | European | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105335 | U | 215697 | - | European | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
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)] |
105388 | M | 215739 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31238161 [Fam.F1:P1] | |
105398 | F | 215749 | 4 | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
105408 | F | 215758 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:33425813 [Case3] | |
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)] |
105432 | M | 215767![]() |
- | Caucasian | Bronchitis | NFKB1 insufficiency | PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200] |
105437 | M | 215769![]() |
- | Caucasian | Bronchitis | NFKB1 insufficiency | PMID:32278790 [Fam.AT:II.3(II.3)]; PMID:150198 [Fam.BT:III.3(329)]; PMID:31803180 [Fam.C:II.3(S5)]; PMID:34619682 [P.183] |
105446 | M | 215769![]() |
- | Caucasian | Recurrent bronchitis | NFKB1 insufficiency | PMID:32278790 [Fam.AT:II.2(II.2)]; PMID:150198 [Fam.BT:III.4(330)]; PMID:31803180 [Fam.C:II.4(S6)]; PMID:34619682 [P.114] |
105450 | F | 215770![]() |
- | Caucasian | Bronchitis | 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![]() |
- | Caucasian | Bronchitis | 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 | Bronchitis | 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 | Bronchitis | NFKB1 insufficiency | PMID:32278790 [AO.I.1]; PMID:150198 [Fam.BS:I.1(317)]; PMID:31803180 [Fam.B:I.1(S2)]; PMID:34619682 [P.122] |
105470 | M | 215774 | - | Iranian | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.BP:309]; PMID:31117086 [P35] |
105471 | M | 215775![]() |
1 | Filipino | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T] |
105537 | M | 215793 | - | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24698326 [P1] | |
105562 | M | 215805 | 1 | Turkish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
105564 | M | 215807![]() |
3 | Spanish | (unusual) Respiratory tract infection | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
105641 | F | 215831![]() |
38 | Chinese (China) | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:30363934 [case 1(I.2)] |
105658 | M | 215836 | 1 | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.1(Sibling 1)] | |
105659 | F | 215836 | 1 | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
105660 | F | 215836 | - | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.3(Sibling 3)] | |
105731 | F | 215843 | - | Russian | Lung disease | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
105740 | U | 215845 | - | Lung disease | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
105751 | M | 215854 | - | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
105775 | F | 215868 | 25 | German | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
105778 | F | 215871![]() |
- | Spanish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)] |
105791 | F | 215877![]() |
- | Spanish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:II.1(1.1)] |
105793 | M | 215877![]() |
- | Spanish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:I.2(1.2)] |
105794 | M | 215878![]() |
- | Spanish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.2:II.1(2.1)] |
105797 | M | 215879 | - | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S041] | |
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] |
105844 | M | 215889![]() |
- | Spanish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.4:II.1(4.1)] |
105847 | M | 215890![]() |
1 | Spanish | Bronchitis | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.5:II.1(5.1)] |
105859 | F | 215894![]() |
- | British | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)] |
105862 | F | 215894![]() |
1 | British | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:II.3(554)]; PMID:150198 [Fam.EA:II.3(554)]; PMID:34922003 [Fam.A:II.3(A2)]; PMID:34922003 [Fam.A:II.3(A2)] |
105864 | F | 215894![]() |
- | British | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.EA:II.4(555)]; PMID:34922003 [Fam.A:II.4(A3)] |
105865 | M | 215894![]() |
1 | British | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:150198 [Fam.EA:III.1(556)]; PMID:34922003 [Fam.A:III.1(A4)] |
105903 | F | 215903![]() |
- | Caucasian | Bronchitis | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.2(young-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![]() |
33 | Moroccan | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.2(P5)] |
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 | Bronchitis | 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)] | |
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))] |
106044 | F | 215929 | - | Caucasian | Bronchitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))] |
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))] |
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 | 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))] |
106077 | M | 215934 | - | Caucasian | (unusual) Respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))] |
106094 | M | 215947 | - | Caucasian | 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))] |
106173 | M | 215972 | - | Bronchitis | NFKB1 insufficiency | PMID:150198 [Fam.FJ:661]; PMID:34619682 [P.254] | |
106200 | F | 215975![]() |
- | Finnish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.2(693)]; PMID:36356849 [Fam.2:III.2(F2:III:2)] |
106209 | F | 215975![]() |
- | Finnish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
106242 | F | 215977 | - | Caucasian | Recurrent lower respiratory tract infections | PMID:29729943 [Fam.UU:II.4(UU.II.2 (106))]; PMID:29305966 [Fam.IV.2:II.2(II.1)] | |
106246 | F | 215977 | - | Caucasian | 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)] |
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] |
106332 | F | 215988![]() |
- | Recurrent lower respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:37419334 [P1(43)(II.2)]; PMID:34860543 [Fam.1:II.2(P1)] | |
106343 | M | 215993![]() |
27 | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.EU:I.1(603)]; PMID:36105815 [Fam.H67R-2:I.1(H67R/10)] | |
106346 | F | 215993![]() |
14 | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.EU:II.1(605)]; PMID:36105815 [Fam.H67R-2:II.1(H67R/11)] | |
106352 | M | 215998![]() |
- | (unusual) Respiratory tract infection | Activated p110-d syndrome 2 | PMID:34922003 [Fam.B:II.1(B1)] | |
106355 | F | 215999![]() |
- | British | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:34922003 [Fam.C:II.1(C1)] |
106358 | M | 216000 | - | (unusual) Respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31993940 [Patient(II.1)] | |
106363 | F | 216001![]() |
1 | Argentinian | Recurrent lower respiratory tract infections | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
106393 | F | 216006![]() |
- | German | (unusual) Respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106409 | M | 216010![]() |
27 | Chinese (China) | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
106456 | F | 216020![]() |
13 | Chinese (China) | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FS:II.1(737)]; PMID:37705523 [Fam.1:II.1(index)] |
106459 | M | 216021![]() |
- | Bronchitis | 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] |
106491 | F | 216044![]() |
- | Recurrent lower respiratory tract infections | Immunodeficiency 22 | PMID:22985903 [Fam.1:II.1(patient)] | |
106610 | F | 216089![]() |
- | Australian | (unusual) Respiratory tract infection | Agammaglobulinemia 8A | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:II.2(II.2)]; PMID:30323807 [Fam.1:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)] |
106611 | M | 216089![]() |
- | Australian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:I.1(I.1)]; PMID:29114388 [Fam.A:I.1(I.1)] |
106612 | F | 216089![]() |
- | Australian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:I.2(I.2)]; PMID:29114388 [Fam.A:I.2(I.2)] |
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)] |
106684 | F | 216108 | 62 | Asian | Bronchitis | NFKB1 insufficiency | PMID:36105815 [G136S] |
106714 | M | 215871![]() |
5 | Spanish | Bronchitis | NFKB1 insufficiency | PMID:150198 [Fam.DM:II.2(473)]; PMID:36105815 [Fam.G386R:II.2(G386R/4)] |
106750 | F | 216121![]() |
0 | Palestinian | (unusual) Respiratory tract infection | T-negative/B-positive SCID type 1 | PMID:32921793 [Fam.B:II.1(P1-B)] |
106767 | M | 216125 | - | Recurrent lower respiratory tract infections | Combined immunodeficiency 14B | PMID:31449058 [P1(II.1)] | |
106788 | F | 216139 | - | Bronchitis | Immunodeficiency, common variable, 8 | PMID:34619682 [P.71] | |
106794 | F | 216145![]() |
- | German | Bronchitis | Immunodeficiency, common variable, 14 | PMID:34619682 [P.263]; PMID:39059757 [Fam.1:II.2(P2)] |
106807 | F | 216145![]() |
14 | German | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:34619682 [P.159]; PMID:39059757 [Fam.1:II.1(P1)] |
106812 | F | 216158 | - | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
106816 | F | 216162 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
106819 | M | 216163![]() |
- | Chinese (China) | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106912 | F | 216186 | 44 | Bronchitis | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
107043 | M | 216282 | 4 | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:27444043 [P1] | |
107045 | M | 216284 | - | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:28428270 [P1] | |
107046 | M | 216285 | 1 | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:28428270 [P2] | |
107096 | F | 216332 | - | Japanese | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
107103 | M | 216335![]() |
- | Chinese (China) | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt1(II.2)] |
107161 | F | 216366![]() |
10 | Sri Lankan Tamil | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:26607704 [P1(II.1)] |
107212 | F | 216374 | 1 | Arab | (unusual) Respiratory tract infection | Combined immunodeficiency 37 | PMID:31775018 [Patient] |
107247 | F | 216396 | - | (unusual) Respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:001501 [case] | |
107248 | F | 216397 | 2 | Kuwaiti | (unusual) Respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:001502 [Patient] |
107249 | F | 216398![]() |
- | Argentinian | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt7]; PMID:29378236 [Fam.1:Patient 1] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).