Recurrent respiratory infections
Basic details
Preferred term: Recurrent respiratory infections
Alt. terms: Frequent respiratory infections | Multiple respiratory infections | Recurrent respiratory infections | respiratory infections, recurrent | Susceptibility to respiratory infections
HPO term: Recurrent respiratory infections
HPO code: HP:0002205
GenIA ID: 2332
Last updated on: 2024-09-13 16:35:45
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Hierarchical classification
TERM
Recurrent respiratory infections
CHILD terms
- Recurrent lower respiratory tract infections
- Recurrent upper respiratory tract infection
- Sinopulmonary infections
- Respiratory infections in early life
- Recurrent infections due to aspiration
- Recurrent streptococcus pneumoniae infections
- Recurrent bronchopulmonary infections
- Recurrent acute respiratory tract infection
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | -,14 | German | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3] |
101017 | F | 210232 | 2,2 | German | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F003:P003] | |
101019 | F | 210316 | 6,6 | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F004:P004] | |
101020 | F | 210008![]() |
-,28 | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F005:P005]; PMID:32278790 [Fam.AU:II.3(II.3)]; PMID:29403474 [Patient 28 (11)]; PMID:150198 [Fam.AM:II.4(157)]; PMID:27461466 [Fam.199_01:28] |
101021 | M | 210359 | 20,20 | German | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F006:P006] | |
101022 | M | 210482 | 16,16 | German | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F007:P007] | |
101024 | F | 210927 | 33,33 | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F009:P009] | ||
101025 | M | 210937 | 43,43 | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F010:P010] | ||
101026 | M | 210215 | 20,20 | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F011:P011] | ||
101027 | M | 211035 | 28,28 | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F012:P012] | ||
101038 | F | 210182![]() |
-,- | Caucasian | Recurrent lower respiratory tract infections,Recurrent respiratory 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] |
101047 | F | 210205![]() |
- | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.5(A.II.3)]; PMID:29729943 [Fam.A:II.5(A.II.3 (3))] |
101061 | F | 211392 | 19 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F031:P031] | ||
101062 | M | 212603![]() |
- | South Asian | Recurrent infections | ARPC1B deficiency | PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)] |
101063 | M | 210118 | - | German | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F411:P411]; PMID:34390440 [CMC01] | |
101065 | F | 211364 | -,- | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F033:P033] | |
101069 | F | 211370![]() |
- | Turkish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F039:P039]; PMID:32278790 [Fam.AJ:III.2(III.2)]; PMID:150198 [Fam.BZ:III.2(381)] |
101081 | F | 211315 | 22 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F047:P047] | ||
101082 | F | 211226 | -,- | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
101086 | M | 210934 | - | German | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F052:P052] | |
101088 | M | 211560 | 38 | German | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F054:P054] | |
101089 | M | 211033 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F055:P055] | ||
101092 | M | 210772 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F058:P058] | ||
101093 | M | 211289 | - | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
101101 | M | 211414 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.G:II.1] | |
101102 | M | 211415 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F064:P064] | |
101115 | F | 210778 | - | Caucasian | Recurrent upper respiratory tract infection | 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] |
101122 | M | 210197![]() |
- | Italian | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
101125 | M | 210429 | - | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 1 | PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060] |
101128 | M | 210897 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07] |
101137 | M | 211224 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F398:P398] | |
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)] |
101153 | M | 210757 | 11 | German | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES55] |
101154 | F | 210005 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F097:P097] | ||
101155 | M | 210235 | - | German | 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] |
101162 | F | 211457 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F103:P103] | |
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)] |
101178 | M | 210542 | 17,17 | (unusual) Respiratory tract infection,Recurrent upper 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)] |
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] |
101197 | F | 214344 | - | Egyptian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES18] |
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] |
101206 | F | 211500 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F129:P129] | ||
101213 | M | 210014![]() |
28 | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.B:II.1(P3)]; PMID:16384931 [Fam.B:II.2(P3)]; PMID:19426217 [Fam.B:II.2(P3)]; PMID:28861081 [Fam.2:II.1(P3)] |
101214 | M | 210014![]() |
19 | 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)] |
101260 | M | 212144 | -,2 | Iranian | (unusual) Respiratory tract infection,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 | -,- | Iranian | Recurrent infections,Recurrent upper respiratory tract infection | 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 | Sinopulmonary infections | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.3]; PMID:25468195 [Fam.C:II.3(P4)]; PMID:26707784 [P8] |
101312 | M | 212149 | 7 | Lebanese | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.1(P2)]; PMID:26707784 [P16] |
101313 | F | 212149 | 10 | Lebanese | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17] |
101343 | M | 210134 | - | Italian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3] |
101369 | M | 212161 | - | Turkish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:30479781 [P1(V.1)] |
101371 | M | 212161 | - | Turkish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:30479781 [Fam.P1:V.2(P2)] |
101375 | F | 212162 | 3 | Iranian | Recurrent upper respiratory tract infection | 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] |
101376 | F | 212162 | 6 | Iranian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.2(P2)]; PMID:29528757 [Case 4]; PMID:26707784 [Fam.F:IV.2(P31)]; PMID:26993986 [Fam.F7:II.2(2)]; PMID:28512785 [P9] |
101380 | M | 212163 | - | Iranian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.1(P4)]; PMID:26707784 [Fam.C:IV.5(P26)]; PMID:28512785 [P11] |
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] |
101385 | M | 210567 | - | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F135:P135]; PMID:31857261 [Patient 9] |
101386 | F | 212164 | 9 | Pakistani | Recurrent streptococcus pneumoniae infections | Immunodeficiency, common variable, 8 | PMID:22981790 [P1(II.1)]; PMID:26707784 [P11] |
101399 | F | 210189![]() |
- | German | Recurrent upper respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
101401 | F | 210205![]() |
-,- | Caucasian | Recurrent lower respiratory tract infections,Recurrent respiratory 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![]() |
-,31 | German | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
101410 | F | 210902 | 44,- | German | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F141:P141]; PMID:28493328 [P4] |
101421 | F | 212170 | 3 | Iranian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
101424 | M | 212172 | 2 | Iranian | Recurrent upper respiratory tract infection | 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,Recurrent respiratory 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)] |
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,Recurrent respiratory 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 | Recurrent upper respiratory tract infection | 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,Recurrent upper 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 | Recurrent upper respiratory tract infection | 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,Recurrent upper 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] |
101495 | M | 212458 | 1 | Taiwanese | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
101501 | F | 212459 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:II.2(P4)] |
101509 | F | 212459 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.2(P1)] |
101511 | M | 212459 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.3(P2)] |
101512 | M | 212459 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.4(P3)] |
101514 | M | 210220![]() |
- | German | Recurrent upper respiratory tract infection | 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)] |
101525 | F | 211543 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F174:P174] | ||
101527 | M | 210728 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F175:P175] | ||
101530 | M | 212460 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.3(P5)] |
101532 | F | 212460 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.5(P6)] |
101534 | M | 212460 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.1(P11)] |
101538 | F | 212460 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.3(P7)] |
101541 | M | 212461 | - | Slovenian | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.C:II.1(P8)] |
101546 | F | 212462 | - | Irish | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:II.1(P10)] |
101548 | M | 212462 | - | Irish | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:III.1(P9)] |
101549 | F | 212463 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:I.1(P13)] |
101551 | M | 212463 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:II.1(P12)] |
101552 | M | 212464 | - | French | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.F:II.1(P14)] |
101553 | M | 210256 | - | German | Recurrent upper respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
101560 | M | 212465 | - | French | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.2(P15)] |
101561 | F | 212465 | - | French | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.3(P16)] |
101563 | M | 212465 | - | French | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.4(P17)] |
101565 | M | 211008![]() |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F188:P188]; PMID:32278790 [Fam.BS:II.1(II.1)]; PMID:150198 [Fam.DD:II.1(457)]; PMID:36105815 [Fam.M216V:II.1(M216V/1)] |
101566 | F | 210575![]() |
-,- | German | (unusual) Respiratory tract infection,Recurrent upper 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,Recurrent upper 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![]() |
-,30 | German | Recurrent lower respiratory tract infections,Recurrent respiratory 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)] |
101579 | F | 210773 | - | Turkish | Recurrent upper respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:28493328 [P1]; PMID:31857261 [Patient 13] |
101588 | M | 210935 | 42 | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F206:P206] | |
101592 | M | 212605![]() |
- | Moroccan | Recurrent infections | 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 | Recurrent infections | ARPC1B deficiency | PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6] |
101601 | M | 212619![]() |
- | Italian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101604 | M | 212620![]() |
- | Italian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
101608 | M | 212621![]() |
- | Canadian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3] |
101611 | M | 212622![]() |
- | Colombian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.D:II.4(P4)] |
101622 | F | 212623![]() |
- | Moroccan | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.E:II.1(P5)] |
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)] |
101631 | F | 212624![]() |
- | Turkish | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.F:II.1(P6)] |
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 | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
101651 | M | 210939 | 21 | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F226:P226] | ||
101664 | M | 211085 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F232:P232] | ||
101673 | M | 211156 | - | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
101693 | M | 212637![]() |
- | Nepalese | Recurrent upper respiratory tract infection | ARPC1B deficiency | PMID:30771411 [P14(II.1)] |
101697 | F | 211447 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F243:P243] | ||
101711 | M | 210925![]() |
- | Turkish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F412:P412]; PMID:32278790 [Fam.BT:II.1(II.1)]; PMID:150198 [Fam.DE:II.1(460)]; PMID:36105815 [Fam.R230K:II.1(R230K/2)] |
101713 | F | 212643 | - | Jordanian | (unusual) Respiratory tract infection | Agammaglobulinemia 4 | PMID:25893637 [Fam.P1:II.5(P2)] |
101717 | F | 210260![]() |
-,- | Caucasian | Recurrent lower respiratory tract infections,Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)] |
101720 | F | 210022 | - | Iranian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.2(P5)]; PMID:25539626 [P1(II.1)]; PMID:26707784 [P12] |
101722 | F | 210261![]() |
- | Asian | Recurrent streptococcus pneumoniae infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.D:II.1(D.II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)] |
101735 | F | 210300![]() |
- | North American | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.8(P5)] |
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,Recurrent respiratory 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)] |
101753 | M | 210024 | -,- | Japanese | Recurrent infections,Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
101754 | M | 210024 | -,- | Japanese | Recurrent infections,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,Sinopulmonary infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
101756 | F | 210025 | 5,4 | North American | (unusual) Respiratory tract infection,Sinopulmonary infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)] |
101764 | F | 210031 | -,- | Dutch | Recurrent infections,Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
101768 | M | 210789 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
101773 | M | 210876![]() |
-,- | German | (unusual) Respiratory tract infection,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)] |
101778 | M | 210920 | - | Libyan | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26745254 [Fam.P1:II.3(P2)] |
101783 | F | 210923![]() |
- | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.II:I.2(P1)] |
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 | 8,- | Italian | (unusual) Respiratory tract infection,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 | Recurrent upper respiratory tract infection | 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)] |
101807 | F | 211431 | - | Recurrent upper respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F264:P264] | |
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 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F271:P271] | |
101814 | F | 211527 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F274:P274]; PMID:32278790 [AK.I.1]; PMID:150198 [Fam.CP:435] |
101819 | F | 211386 | - | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:31057532 [Fam.F:I.2] | |
101829 | M | 211577 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F293:P293] | ||
101833 | M | 210887 | - | Recurrent lower respiratory tract infections | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
101840 | F | 211591 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
101843 | M | 211371 | - | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F404:P404] |
101849 | F | 211636 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F311:P311] | |
101882 | M | 211763 | - | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F325:P325] | ||
101883 | M | 211765 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F405:P405] | |
101884 | M | 212237![]() |
- | Sudanese | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
101893 | F | 211767 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F326:P326] | ||
101911 | F | 211833 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F337:P337] | ||
101915 | F | 211935 | - | 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] | ||
101946 | F | 211943 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F406:P406] | |
101959 | M | 210641 | 18 | German | Recurrent upper respiratory tract infection | 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)] |
101973 | F | 214053![]() |
-,- | Turkish | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.6(D.II.4)]; PMID:34390440 [HIES52] |
101974 | F | 214053![]() |
- | Turkish | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.3(D.II.2)] |
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] |
102124 | F | 214351![]() |
- | Sudanese | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.5(B.II.4)] |
102129 | F | 214351![]() |
- | Sudanese | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.1(B.II.1)] |
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)] |
102134 | M | 214352![]() |
- | Sudanese | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.6(C.II.6)] |
102138 | M | 214393![]() |
- | North American | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:II.2(F)]; PMID:37876937 [Fam.A:II.1(A.3)] |
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)] |
102142 | M | 214393![]() |
- | North American | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:III.2(B)]; PMID:37876937 [Fam.A:III.2(A.2)] |
102157 | F | 214681 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
102168 | M | 214767![]() |
2 | Georgian | Recurrent upper respiratory tract infection | Agammaglobulinemia 14 | PMID:33571536 [P-FR1(II.3)] |
102182 | F | 214681 | -,- | Caucasian | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:III.1(46)] |
102222 | M | 214917 | 28,- | German | (unusual) Respiratory tract infection,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 | - | German | Recurrent upper respiratory tract infection | DiGeorge syndrome | PMID:35486341 [P017] |
102245 | M | 214924![]() |
- | Afghanistani | Recurrent infections | 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] |
102270 | F | 214928![]() |
1 | Japanese | Recurrent infections | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
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![]() |
0 | 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)] |
102436 | F | 214956![]() |
- | Bulgarian | Recurrent upper respiratory tract infection | 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![]() |
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)] |
102477 | M | 214964![]() |
- | Turkish | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4B | PMID:30309848 [Patient(III.5)] |
102507 | F | 214948![]() |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.9(P2)]; PMID:22354167 [Fam.A:IV.10(P1.2)] |
102509 | M | 214948![]() |
- | Irish Traveller | (unusual) Respiratory tract infection | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)] |
102511 | M | 214948![]() |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.14(P4)]; PMID:22354167 [Fam.A:IV.14(P1.4)] |
102512 | F | 214948![]() |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.15]; PMID:22354167 [Fam.A:IV.15(P1.5)] |
102530 | M | 214966![]() |
- | Japanese | (unusual) Respiratory tract infection | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
102648 | M | 214975![]() |
4 | Czech | Recurrent upper respiratory tract infection | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.1(Patient A)] |
102649 | M | 214975![]() |
- | Czech | Recurrent upper respiratory tract infection | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.2(Patient B)] |
102654 | F | 214978![]() |
1 | North American | Recurrent upper respiratory tract infection | Immunodeficiency 8 | PMID:19097825 [Patient(II.2)]; PMID:18836449 [Patient(II.2)] |
102659 | F | 214979![]() |
0 | Moroccan | (unusual) Respiratory tract infection | Immunodeficiency 8 | PMID:23522482 [P3(V.3)] |
102660 | M | 214979![]() |
1 | Moroccan | (unusual) Respiratory tract infection | Immunodeficiency 8 | PMID:23522482 [Fam.P3:V.1(P1)] |
102677 | M | 214980![]() |
1 | Pakistani | Recurrent lower respiratory tract infections | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
102731 | F | 214982![]() |
- | Colombian | Sinopulmonary infections | Immunodeficiency 99 | PMID:32484799 [Patient(II.2)] |
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)] |
102808 | M | 214992![]() |
2 | Turkish | Recurrent bronchopulmonary infections | Immunodeficiency 8 | PMID:26476480 [P1(II.1)] |
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)] | |
102865 | F | 214996![]() |
- | Italian | Recurrent infections | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(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] | |
102915 | F | 215016 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P4]; PMID:37419334 [P4(22)] | |
102916 | F | 215017 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P5]; PMID:37419334 [P5(22)] | |
102917 | M | 215018 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P6]; PMID:37419334 [P6(22)] | |
102920 | F | 215021 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P9]; PMID:37419334 [P9(22)] | |
102925 | M | 215026 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P14]; PMID:37419334 [P14(22)] | |
102927 | M | 215028 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P16]; PMID:37419334 [P16(22)] | |
102928 | M | 215029 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P17] | |
102930 | F | 215031 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P19]; PMID:37419334 [P19(22)] | |
102931 | F | 215032 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P20]; PMID:37419334 [P20(22)] | |
102932 | M | 215033 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P21]; PMID:37419334 [P21(22)] | |
102933 | M | 215034 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P22]; PMID:37419334 [P22(22)] | |
102936 | M | 215037 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P25]; PMID:37419334 [P25(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)] |
102993 | F | 215077![]() |
- | Turkish | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 2] |
103002 | F | 215080![]() |
- | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 5] | |
103009 | F | 215082![]() |
- | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 6] | |
103012 | M | 215083![]() |
- | Turkish | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 7] |
103015 | M | 215084![]() |
- | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 8] | |
103027 | F | 215087![]() |
- | Hungarian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN133]; PMID:18706697 [Fam.2:I.2(N1)] |
103031 | M | 215088 | - | Hungarian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN134]; PMID:18706697 [Fam.3:K] |
103051 | M | 215095![]() |
- | Finnish | Recurrent lower respiratory tract infections | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
103061 | M | 215095![]() |
- | Finnish | (unusual) Respiratory tract infection | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.9(P2)] |
103062 | M | 215096![]() |
- | Finnish | Recurrent upper respiratory tract infection | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
103067 | F | 215097![]() |
- | Finnish | Recurrent upper respiratory tract infection | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F3:II.3(P4)] |
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)] |
103281 | F | 215111![]() |
- | Chinese (China) | Recurrent infections | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
103292 | F | 215114 | - | German | Recurrent infections | 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 | (unusual) Respiratory tract infection,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)] |
103788 | M | 215242![]() |
- | South Korean | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
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] |
103880 | F | 215269![]() |
-,- | Finnish | Recurrent infections,Recurrent upper respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
103914 | F | 215270 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K1:P1] |
103916 | M | 215271 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K2:P2] |
103917 | F | 215272![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:II.2(P4)] |
103918 | M | 215272![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:I.1(P3)] |
103921 | F | 215273 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K4:P5] |
103922 | F | 215274 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K5:P6] |
103923 | M | 215275![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:II.1(P8)] |
103925 | F | 215275![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:I.2(P7)] |
103926 | F | 215276 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K7:P9] |
103927 | F | 215277 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K8:P10] |
103928 | M | 215278 | - | Algerian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K9:P11] |
103929 | M | 215279 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K10:P12] |
103930 | F | 215280 | - | Moroccan | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K11:P13] |
103931 | M | 215281![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.2(P16)] |
103933 | F | 215281![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:I.2(P14)] |
103935 | F | 215282 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K13:P17] |
103936 | M | 215283 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K14:P18] |
103937 | F | 215284 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K15:P19] |
103939 | F | 215286 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K17:P21] |
103940 | F | 215287![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:P22] |
103944 | M | 215287![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:II.2(P23)] |
103946 | F | 215290 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K20:P25] |
103947 | F | 215291 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K21:P26] |
103948 | F | 215292 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K22:P27] |
103949 | M | 215293![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.2(P30)] |
103952 | M | 215293![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.1(P29)] |
103953 | F | 215294 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K24:P31] |
103954 | M | 215295 | - | Algerian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K25:P32] |
103955 | F | 215296 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K26:P33] |
103956 | M | 215297 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K27:P34] |
103958 | M | 215298![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:I.1(P35)] |
103961 | F | 215299 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K29:P36] |
103962 | F | 215300![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:II.1(P38)] |
103965 | F | 215301 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K31:P39] |
103968 | F | 215304 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K34:P42] |
103969 | F | 215305![]() |
- | Pakistani | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.2(P45)] |
103971 | F | 215305![]() |
- | Pakistani | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:I.2(P43)] |
103972 | M | 215305![]() |
- | Pakistani | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.1(P44)] |
103974 | M | 215307 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K37:P47] |
103975 | F | 215308![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:II.1(P49)] |
103977 | F | 215308![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:I.2(P48)] |
103978 | M | 215309 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K39:P50] |
103979 | M | 215310 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K40:P51] |
103980 | F | 215311 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K41:P52] |
103981 | M | 215312 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K42:P53] |
103982 | F | 215313 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K43:P54] |
103983 | M | 215314 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K44:P55] |
103984 | M | 215315 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K45:P56] |
103985 | M | 215316 | - | Portuguese | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K46:P57] |
103986 | M | 215317 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K47:P58] |
104002 | F | 215323![]() |
- | Recurrent upper respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
104004 | F | 215325 | - | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P8] | |
104052 | F | 215328![]() |
- | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN110]; GRID:000796 [UPN110(II.1)] |
104053 | M | 215329 | - | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:19891924 [Patient] | |
104054 | F | 215330 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN70]; PMID:18835223 [UPN70]; GRID:000796 [UPN70] |
104056 | M | 215332 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN114]; GRID:000796 [UPN114] |
104057 | M | 215333 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN86]; GRID:000796 [UPN86] |
104062 | F | 215338 | - | Colombian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN29]; PMID:18835223 [UPN29]; GRID:000796 [UPN29] |
104063 | M | 215339 | - | Colombian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN31]; PMID:18835223 [UPN31]; GRID:000796 [UPN31] |
104064 | M | 215340 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN43]; GRID:000796 [UPN43] |
104068 | F | 215344 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN126]; GRID:000796 [UPN126] |
104073 | M | 215349 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN135]; GRID:000796 [UPN135] |
104074 | F | 215350 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN79]; PMID:18835223 [UPN79]; GRID:000796 [UPN79] |
104075 | M | 215351 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN98]; GRID:000796 [UPN98] |
104076 | F | 215352 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN25]; GRID:000796 [UPN25] |
104077 | F | 215353 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN37]; GRID:000796 [UPN37] |
104078 | M | 215354 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN44]; GRID:000796 [UPN44] |
104080 | M | 215356 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN61]; GRID:000796 [UPN61] |
104081 | M | 215357 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN72]; GRID:000796 [UPN72] |
104082 | M | 215358 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN77]; GRID:000796 [UPN77] |
104086 | M | 215362![]() |
- | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN60]; GRID:000796 [UPN60(I.1)] |
104088 | F | 215364 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN118]; GRID:000796 [UPN118] |
104091 | F | 215367![]() |
- | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN2]; PMID:18835223 [UPN2]; GRID:000796 [UPN2(II.4)] |
104092 | F | 215368 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN46]; GRID:000796 [UPN46] |
104093 | M | 215369 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN102]; GRID:000796 [UPN102] |
104098 | F | 215374 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN16]; PMID:18835223 [UPN16]; GRID:000796 [UPN16] |
104099 | M | 215375 | - | Colombian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN32]; PMID:18835223 [UPN32]; GRID:000796 [UPN32] |
104100 | M | 215376 | - | Colombian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN33]; PMID:18835223 [UPN33]; GRID:000796 [UPN33] |
104102 | M | 215378 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN45]; GRID:000796 [UPN45] |
104105 | M | 215381![]() |
- | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN106]; GRID:000796 [Fam.UPN106:II.1] |
104107 | M | 215383 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN125]; GRID:000796 [UPN125] |
104108 | M | 215384 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN104]; GRID:000796 [UPN104] |
104109 | M | 215385 | - | North American | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN49]; GRID:000796 [UPN49] |
104110 | F | 215386 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN109]; GRID:000796 [UPN109] |
104111 | M | 215387 | - | Latino | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN27]; GRID:000796 [UPN27] |
104114 | M | 215390 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN116]; GRID:000796 [UPN116] |
104148 | M | 215392![]() |
- | Syrian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.A:III.5(P1)] |
104158 | M | 215393![]() |
- | Australian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
104165 | M | 215394![]() |
- | Indian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.C:II.4(P3)] |
104171 | M | 215395![]() |
- | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:III.1(P5)] | |
104174 | M | 215395![]() |
- | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:II.1(P4)] | |
104177 | M | 215396![]() |
- | Maori | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.E:I.1(P6)] |
104190 | F | 215399 | - | Latino | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN30] |
104191 | F | 215400 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN136] |
104193 | M | 215402 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN147] |
104195 | M | 215404 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN152] |
104196 | M | 215405![]() |
- | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN153(I.1)] |
104202 | F | 215409 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN159] |
104203 | F | 215410![]() |
- | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN160(II.2)] |
104268 | M | 215444![]() |
- | Ashkenazi Jewish | Sinopulmonary infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
104296 | M | 215449![]() |
- | Chinese (China) | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:21107604 [Case(II.1)] |
104300 | F | 215450![]() |
- | Greek | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20149460 [Patient] |
104355 | M | 215494 | 1 | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H8]; PMID:22126402 [case] | |
104356 | M | 215495 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P1] |
104357 | M | 215496 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P2] |
104358 | F | 215497 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P3] |
104359 | F | 215498 | - | French Caribbean | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P4] |
104360 | M | 215499 | - | French Caribbean | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P5] |
104362 | F | 215501 | - | Pakistani | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P7] |
104363 | M | 215502 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P8] |
104364 | F | 215503 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P9] |
104365 | F | 215504 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P10] |
104367 | F | 215506 | - | Moroccan | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P12] |
104368 | F | 215507 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P13] |
104370 | M | 215509 | - | Algerian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P14] |
104372 | M | 215511 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P16] |
104374 | F | 215513 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P18] |
104375 | M | 215514 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P19] |
104376 | M | 215515 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P20] |
104377 | M | 215516 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P21] |
104386 | M | 215518![]() |
- | Ivorian | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:37080116 [P19(II.1)] |
104444 | F | 215528![]() |
3 | Spanish | Recurrent infections | 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)] | |
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)] |
104790 | M | 215574![]() |
- | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
104838 | M | 215578![]() |
-,- | Caucasian | Recurrent lower respiratory tract infections,Recurrent respiratory 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,Recurrent upper 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)] |
104864 | F | 215598![]() |
- | Recurrent infections | Immunodeficiency, common variable, 14 | PMID:33864888 [S125]; PMID:37876937 [Fam.B:II.1(B.1)] | |
104876 | F | 215579![]() |
- | European | Recurrent upper respiratory tract infection | 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)] |
104886 | F | 215613![]() |
- | Caucasian | Recurrent upper respiratory tract infection | 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 | Recurrent upper respiratory tract infection | 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![]() |
- | Recurrent bronchopulmonary infections | Immunodeficiency, common variable, 14 | PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)] | |
104932 | F | 215622![]() |
- | Dutch | Recurrent upper respiratory tract infection | 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![]() |
-,- | Dutch | (unusual) Respiratory tract infection,Recurrent upper 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![]() |
- | Dutch | Recurrent upper respiratory tract infection | 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 | Recurrent upper respiratory tract infection | 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 | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.3(III.3)]; PMID:26279205 [Fam.NL1:III.4(25)]; PMID:29403474 [Fam.NL1 (5):III.4(25)]; PMID:11583829 [Fam.1:III.3(III:3)]; PMID:16639407 [Fam.1:III.4(25)]; PMID:150198 [Fam.AA:III.4(030)] |
104970 | M | 215622![]() |
50,- | Dutch | (unusual) Respiratory tract infection,Recurrent upper 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)] |
104972 | F | 215622![]() |
- | Dutch | Recurrent upper respiratory tract infection | 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)] |
104985 | F | 215622![]() |
- | Dutch | Recurrent upper respiratory tract infection | PMID:32278790 [Fam.NA:IV.3(IV.3)]; PMID:26279205 [Fam.NL1:IV.4(46)]; PMID:11583829 [Fam.1:IV.3(IV:2)]; PMID:16639407 [Fam.1:IV.4(46)]; PMID:150198 [Fam.AA:IV.4(060)] | |
104989 | F | 215622![]() |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.7(IV.7)]; PMID:26279205 [Fam.NL1:IV.8(49)]; PMID:29403474 [Fam.NL1 (5):IV.8(49)]; PMID:11583829 [Fam.1:IV.6(IV:6)]; PMID:16639407 [Fam.1:IV.6(49)]; PMID:150198 [Fam.AA:IV.8(064)] |
104994 | F | 215622![]() |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.11(IV.10)]; PMID:26279205 [Fam.NL1:IV.13(62)]; PMID:29403474 [Fam.NL1 (5):IV.13(62)]; PMID:150198 [Fam.AA:IV.14(070)]; PMID:35242131 [Fam.2.:II.1(P9)] |
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)] |
105019 | M | 215624![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [P1(III.4)] |
105023 | M | 215624![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.2(P2)] |
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] | |
105066 | F | 215624![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.6(P3)] |
105069 | M | 215624![]() |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:IV.1(P5)] |
105075 | M | 215636 | - | Spanish | Recurrent upper respiratory tract infection | 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![]() |
11,- | Israeli | (unusual) Respiratory tract infection,Recurrent upper 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)] |
105102 | M | 215640![]() |
5 | European | Recurrent upper respiratory tract infection | 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)] |
105105 | F | 215643![]() |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)] |
105108 | M | 215643![]() |
- | Caucasian | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AB:I.2(I.2)]; PMID:29403474 [Fam.(7):I.1(Father)]; PMID:27338827 [Fam.1:I.2(I-2)]; PMID:150198 [Fam.AD:I.1(115)] |
105110 | M | 215644 | - | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
105112 | F | 215646 | - | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
105129 | M | 215647![]() |
- | Recurrent upper respiratory tract infection | 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![]() |
- | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:27379089 [Fam.1:c2(P2)]; PMID:32278790 [Fam.BA:II.2(II.2)]; PMID:29403474 [Fam.(10):c2(Patient 2)]; PMID:150198 [Fam.AG:IV.2(144)] | |
105131 | M | 215648 | -,- | Italian | (unusual) Respiratory tract infection,Recurrent upper 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 | Recurrent upper respiratory tract infection | 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 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
105149 | M | 215654![]() |
- | Chinese (China) | Recurrent infections | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
105152 | F | 215655![]() |
- | Spanish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [V.I.1]; PMID:29403474 [Patient 26 (11)]; PMID:150198 [Fam.AK:I.2(149)]; PMID:27461466 [Fam.827_01:26] |
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] | |
105194 | M | 215665![]() |
2,- | Iranian | Recurrent infections,Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
105197 | M | 215666![]() |
- | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.3(III.3)]; PMID:29403474 [Fam.1 (9):III.3(F1.III-3)]; PMID:28115215 [Fam.1:III.3(F1.III-3)]; PMID:150198 [Fam.AQ:III.3(177)]; PMID:36356849 [Fam.6:III.3(F6:III:3)]; PMID:36105815 [Fam.H67R:III.3(H67R/4)] |
105209 | M | 215666![]() |
- | Finnish | Recurrent upper respiratory tract infection | 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)] |
105212 | F | 215666![]() |
49 | Finnish | Recurrent upper respiratory tract infection | 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)] |
105214 | F | 215666![]() |
29 | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.2(III.2)]; PMID:29403474 [Fam.1 (9):III.2(F1.III-2)]; PMID:28115215 [Fam.1:III.2(F1.III-2)]; PMID:150198 [Fam.AQ:III.2(176)]; PMID:36356849 [Fam.6:III.2(F6:III:2)]; PMID:36105815 [Fam.H67R:III.2(H67R/3)] |
105218 | F | 215666![]() |
24 | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.6(III.6)]; PMID:29403474 [Fam.1 (9):III.6(F1.III-6)]; PMID:28115215 [Fam.1:III.6(F1.III-6)]; PMID:150198 [Fam.AQ:III.6(180)]; PMID:36356849 [Fam.6:III.6(F6:III:6)]; PMID:36105815 [Fam.H67R:III.6(H67R/5)] |
105219 | F | 215666![]() |
17 | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.7(III.7)]; PMID:29403474 [Fam.1 (9):III.7(F1.III-7)]; PMID:28115215 [Fam.1:III.7(F1.III-7)]; PMID:150198 [Fam.AQ:III.7(181)]; PMID:36356849 [Fam.6:III.7(F6:III:7)]; PMID:36105815 [Fam.H67R:III.7(H67R/6)] |
105220 | F | 215666![]() |
- | Finnish | Recurrent upper respiratory tract infection | 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)] |
105222 | F | 215666![]() |
0 | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:IV.1(IV.1)]; PMID:29403474 [Fam.1 (9):IV.2(F1.IV-2)]; PMID:28115215 [Fam.1:IV.2(F1.IV-2)]; PMID:150198 [Fam.AQ:IV.2(184)]; PMID:36356849 [Fam.6:IV.2(F6:IV:2)]; PMID:36105815 [Fam.H67R:IV.2(H67R/9)] |
105225 | F | 215671![]() |
- | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
105226 | M | 215671![]() |
- | Finnish | (unusual) Respiratory tract infection | PMID:32278790 [Fam.F2:I.1(I.1)]; PMID:28115215 [Fam.2:I.1(F2.I-1)]; PMID:150198 [Fam.AR:I.1(187)]; PMID:36356849 [Fam.5:I.1(F5:I:1)] | |
105231 | M | 215671![]() |
1 | 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)] |
105241 | M | 215673 | - | Kuwaiti | Sinopulmonary infections | Immunodeficiency, common variable, 8 | PMID:27760045 [P3(II.1)] |
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,Recurrent upper 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 | Recurrent upper respiratory tract infection | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105279 | F | 215685![]() |
42 | European | Recurrent streptococcus pneumoniae infections | 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![]() |
- | European | Recurrent streptococcus pneumoniae infections | 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![]() |
- | European | Recurrent upper respiratory tract infection | 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 | Recurrent upper respiratory tract infection | 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 | Recurrent upper respiratory tract infection | 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 | Recurrent upper respiratory tract infection | 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)] |
105302 | M | 215686![]() |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)] |
105308 | F | 215687![]() |
- | European | Recurrent upper respiratory tract infection | 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,Recurrent upper 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] |
105316 | U | 215691 | - | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
105317 | M | 215692![]() |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)] |
105328 | F | 215693![]() |
-,- | European | (unusual) Respiratory tract infection,Recurrent upper 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,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105334 | F | 215696 | - | Indian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [O.II.1]; PMID:29477724 [Fam.O:II.1(II:1)]; PMID:150198 [Fam.BI:287] |
105335 | U | 215697 | -,- | European | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
105337 | U | 215699 | - | European | Recurrent upper respiratory tract infection | 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 | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
105348 | M | 215710 | 1 | Recurrent upper respiratory tract infection | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P1(II.-)] | |
105349 | F | 215711 | - | Recurrent upper respiratory tract infection | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P2] | |
105359 | F | 210314![]() |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BF:III.2(III.2)]; PMID:150198 [Fam.AO:III.1(166)]; GRID:001142 [Fam.#:III.1(FR113)] |
105361 | F | 215701![]() |
- | Pakistani | Recurrent infections | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.3(P2)] |
105363 | F | 215722 | - | Afro-American | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
105370 | F | 215725 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)] |
105377 | F | 215728 | - | Sinopulmonary infections | Immunodeficiency 84 | PMID:35444653 [p1] | |
105378 | F | 215729 | - | Sinopulmonary infections | Immunodeficiency 84 | PMID:34155405 [Fam.1:II.3(p1)] | |
105379 | M | 215730 | - | Sinopulmonary infections | Immunodeficiency 84 | PMID:34155405 [Fam.2:III.2(p2)] | |
105388 | M | 215739 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31238161 [Fam.F1:P1] | |
105398 | F | 215749 | 4,0 | (unusual) Respiratory tract infection,Sinopulmonary infections | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
105408 | F | 215758 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:33425813 [Case3] | |
105412 | F | 215762![]() |
- | Caucasian | Recurrent upper respiratory tract infection | 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)] |
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)] |
105428 | M | 215766![]() |
- | Admixed | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)] |
105433 | F | 215768![]() |
- | Danish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y] |
105437 | M | 215769![]() |
- | Caucasian | Recurrent upper respiratory tract infection | 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 upper respiratory tract infection | 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 | Recurrent upper respiratory tract infection | 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] |
105458 | M | 215771![]() |
- | Caucasian | Recurrent upper respiratory tract infection | 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 | Recurrent upper respiratory tract infection | 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] |
105481 | M | 215777![]() |
- | Haitian/Hispanic | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.A:II.1(A.1)] |
105482 | F | 215778![]() |
- | Caucasian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.B:I.2(I.2)] |
105484 | F | 215778![]() |
- | Caucasian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.B:III.1(B.III.1)] |
105486 | F | 215779![]() |
- | Afro-American | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.C:II.1(C.1)] |
105487 | F | 215780![]() |
- | Afro-American | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.G:II.1(G.1)] |
105488 | M | 215781 | - | Recurrent streptococcus pneumoniae infections | Hyper-IgE recurrent infection syndrome 1 | PMID:28983403 [P2] | |
105504 | F | 215783![]() |
- | Asian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.E:II.1(E.1)] |
105507 | M | 215784![]() |
- | Caucasian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:I.1(D.I.1)] |
105509 | M | 215784![]() |
- | Caucasian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:II.1(D.II.1)] |
105510 | F | 215784![]() |
- | Caucasian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:II.2(D.II.2)] |
105513 | F | 215787![]() |
- | Caucasian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.F:II.1(F.II.1)] |
105537 | M | 215793 | - | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24698326 [P1] | |
105543 | M | 215797 | 40 | Recurrent streptococcus pneumoniae infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P7] | |
105562 | M | 215805 | -,1 | Turkish | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
105563 | F | 215806 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31026575 [P2]; PMID:31432443 [P6(II.1)] |
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)] |
105567 | M | 215808 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31026575 [P3]; PMID:31432443 [P12] |
105568 | M | 215809 | 0 | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24698326 [Fam.A:II.1(P2)] | |
105569 | F | 215809 | 8 | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24698326 [Fam.A:II.2(P7)] | |
105571 | U | 215810 | 2 | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24698326 [P3] | |
105573 | U | 215812 | 8 | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24698326 [P4] | |
105574 | U | 215813 | 5 | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24698326 [P5] | |
105575 | U | 215814 | 4 | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24698326 [P6] | |
105576 | U | 215815 | 2 | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24698326 [P8] | |
105587 | F | 215820 | 2 | Caucasian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24610295 [Fam.1:II.1(F1P1)] |
105591 | F | 215821 | - | Caucasian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24610295 [Fam.2:II.1(F2P2)] |
105609 | M | 215821 | - | Caucasian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:24610295 [Fam.2:III.1(F2P3)] |
105616 | F | 215822 | 18,- | Caucasian | Recurrent infections,Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:II.4(P1)] |
105617 | F | 215822 | - | Caucasian | Sinopulmonary infections | PMID:25352054 [Fam.1:I.1(I.1)] | |
105623 | M | 215822 | - | Caucasian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:II.6(P2)] |
105626 | M | 215822 | 6 | Caucasian | Sinopulmonary infections | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.1(P3)] |
105629 | M | 215823 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:34368306 [Patient 1] | |
105635 | F | 215829 | 1 | Caucasian | Sinopulmonary infections | 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)] |
105649 | F | 215834![]() |
- | Spanish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:29867916 [N234]; PMID:32278790 [Fam.AV:II.1(II.1)]; PMID:150198 [Fam.BL:II.1(294)] |
105658 | M | 215836 | 1 | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.1(Sibling 1)] | |
105659 | F | 215836 | 1 | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
105660 | F | 215836 | - | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.3(Sibling 3)] | |
105671 | M | 215837![]() |
- | Spanish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
105676 | M | 215838![]() |
- | Ecuadorian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)] |
105679 | M | 215839![]() |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
105687 | F | 215840![]() |
- | Caucasian | Recurrent upper respiratory tract infection | 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)] |
105690 | F | 215840![]() |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BL:II.1(II.1)]; PMID:150198 [Fam.CE:II.1(417)]; PMID:36105815 [Fam.H67Y:II.1(H67Y/2)] |
105691 | M | 215841![]() |
- | Australian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.W:I.1(W.I.1)]; PMID:150198 [Fam.CF:I.1(418)] |
105694 | F | 215842![]() |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.Y:II.1(Y.II.1)]; PMID:150198 [Fam.CG:II.1(423)] |
105715 | F | 211370![]() |
- | Turkish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AJ:III.3(III.3)]; PMID:150198 [Fam.BZ:III.3(382)]; GRID:001142 [Fam.*:III.3(FR097.2)] |
105731 | F | 215843 | - | Russian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
105740 | U | 215845 | - | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
105742 | F | 215847 | - | Brasilian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428] |
105745 | M | 215850 | - | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
105747 | F | 215852![]() |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)] |
105748 | M | 215852![]() |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AM:I.1(I.1)]; PMID:150198 [Fam.CA:I.1(397)] |
105750 | M | 215853 | - | North American | Recurrent upper respiratory tract infection | 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] | |
105752 | M | 215855 | - | Russian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438] |
105753 | F | 215856 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AY.I.1]; PMID:150198 [Fam.CT:439] |
105754 | F | 215857 | - | Asian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AZ.I.1]; PMID:150198 [Fam.CU:440] |
105755 | F | 215858 | - | Russian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441] |
105756 | F | 215859 | - | Portuguese | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
105758 | M | 215861 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
105762 | F | 215863 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446] |
105763 | F | 215864![]() |
- | Recurrent upper respiratory tract infection | 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)] | |
105769 | F | 210925![]() |
- | Turkish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BT:I.1(I.1)]; PMID:150198 [Fam.DE:I.2(459)]; PMID:36105815 [Fam.R230K:I.1(R230K/1)] |
105775 | F | 215868 | 25,- | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
105776 | M | 215869 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1] |
105777 | M | 215870 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [CA.I.1]; PMID:150198 [Fam.DL:469]; PMID:36105815 [Fam.K326N/CA:K326N/2] |
105778 | F | 215871![]() |
- | Spanish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)] |
105780 | F | 215873 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
105783 | F | 215876![]() |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
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] | |
105800 | M | 215882 | - | Recurrent infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S112] | |
105824 | M | 215834![]() |
- | Spanish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AV:I.2(I.2)]; PMID:150198 [Fam.BL:I.1(292)] |
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)] |
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)] |
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![]() |
- | Moroccan | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.2(P5)] |
105924 | F | 215908![]() |
- | Moroccan | Recurrent upper respiratory tract infection | 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)] |
105935 | F | 215911![]() |
- | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.EB:II.1(559)]; PMID:34922003 [Fam.D:II.1(D1)] | |
105943 | M | 215912![]() |
- | Colombian/Swiss | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.C:II.1(P8)] |
105957 | M | 215914 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105977 | F | 215918 | - | Japanese | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:35087518 [Fam.15:II.2(15.3)] |
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)] | |
105990 | F | 215921![]() |
- | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FG:III.1(631)]; PMID:36203612 [Fam.1:III.1(1.III.1)] | |
105999 | F | 215922![]() |
-,- | Recurrent infections,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)] | |
106006 | M | 215922![]() |
- | Recurrent infections | PMID:150198 [Fam.FH:IV.1(652)]; PMID:36203612 [Fam.2:IV.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)] |
106041 | M | 215926 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
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 | Recurrent upper respiratory tract infection | 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))] |
106062 | M | 210991 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.13(NN.II.11 (94))] |
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 | (unusual) Respiratory tract infection,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))] |
106106 | F | 215951![]() |
- | Iranian | Sinopulmonary infections | NFKB1 insufficiency | PMID:150198 [Fam.FF:II.1(626)]; PMID:36113674 [P5(II.1)] |
106157 | M | 215956 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P1] |
106158 | M | 215957 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:28956255 [P5(II.2)]; PMID:31432443 [P2(II.2)] |
106161 | M | 215960 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P5] |
106163 | M | 215806 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [Fam.P6:II.2(P7)] |
106164 | M | 215963 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P8] |
106165 | M | 215964 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P9] |
106166 | M | 215965 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P10] |
106167 | F | 215966 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P11] |
106169 | F | 215968 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P13] |
106170 | F | 215969 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P14] |
106172 | F | 215971 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FI:660]; GRID:001142 [FR302] |
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)] |
106216 | F | 215975![]() |
- | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.2(701)]; PMID:36356849 [Fam.2:IV.2(F2:IV:2)] |
106217 | M | 215975![]() |
- | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.3(702)]; PMID:36356849 [Fam.2:IV.3(F2:IV: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 | (unusual) Respiratory tract infection,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 | (unusual) Respiratory tract infection,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 | (unusual) Respiratory tract infection,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 | -,12 | Caucasian | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106314 | M | 215983 | -,- | Caucasian | (unusual) Respiratory tract infection,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P2] |
106323 | M | 215985![]() |
0 | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.EZ:II.1(612)]; PMID:36105815 [Fam.R284P:II.1(R284P/1)] | |
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)] | |
106347 | M | 215994 | - | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.EY:609]; PMID:36105815 [R198C] | |
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)] |
106371 | M | 216004 | 19 | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)] | |
106393 | F | 216006![]() |
- | German | (unusual) Respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106403 | M | 210197![]() |
- | Italian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.DZ:I.1(545)] |
106405 | F | 210197![]() |
- | Italian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.DZ:II.3(549)] |
106406 | M | 216007 | - | Sinopulmonary infections | NFKB1 insufficiency | PMID:150198 [Fam.FK:662]; PMID:35242131 [P1] | |
106409 | M | 216010![]() |
27 | Chinese (China) | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
106455 | M | 216019 | - | Egyptian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:32506362 [P4] |
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![]() |
- | Recurrent infections | 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)] | |
106547 | M | 216075![]() |
- | Dutch | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.C:II.1(P4)]; PMID:25888558 [Fam.1:III.1(P1)] |
106581 | F | 216082![]() |
- | Caucasian | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.E:II.1(P7)] |
106592 | M | 216085 | 14 | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
106600 | M | 216087![]() |
- | French | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.2(P3)] |
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)] |
106622 | M | 216091![]() |
- | Ashkenazi Jewish | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.4:II.1(P11)] |
106625 | F | 216092![]() |
- | Admixed | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.5:II.2(P13)] |
106630 | M | 216093![]() |
- | Ashkenazi Jewish | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.6:II.1(P16)] |
106636 | F | 216095 | - | Iranian | Recurrent upper respiratory tract infection | Activated p110-d syndrome 2 | PMID:31117086 [P34] |
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)] |
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)] | |
106807 | F | 216145![]() |
14 | German | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:34619682 [P.159]; PMID:39059757 [Fam.1:II.1(P1)] |
106811 | M | 216157 | - | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:39059757 [P3] |
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])] |
106840 | M | 216167 | - | SouthEast Asian | Sinopulmonary infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35242131 [3] |
106912 | F | 216186 | 44 | Recurrent infections | 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)] |
107145 | F | 216362![]() |
- | Caucasian | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26131734 [P1(II.1)] |
107146 | M | 216362![]() |
5 | Caucasian | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26131734 [Fam.P1:II.2(P2)] |
107150 | F | 216363 | - | Iranian | Recurrent upper respiratory tract infection | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.4(P2)] |
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).