Recurrent upper respiratory tract infections
Preferred term: Recurrent upper respiratory tract infections
Alt. terms: upper respiratory infections
HPO term: Recurrent upper respiratory tract infections
HPO code: HP:0002788
GenIA ID: 14
Last updated on: 2025-04-11 17:34:51
Cross ref. to other ontologies
NCIT: C35650
MESH: -
EFO: -
OAE:0000358
SNOMEDCT: -
ICD10: -
Description
An infectious process affecting the upper respiratory tract (nose, paranasal sinuses, pharynx, larynx, or trachea). Symptoms include congestion, sneezing, coughing, fever, and sore throat.
Hierarchical classification
PARENT terms
TERM
Recurrent upper respiratory tract infections
Reported patients added to GenIA
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101015 | M | 210203 | 14,14 | German | Recurrent upper respiratory tract infections,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [MM.II.1]; PMID:29729943 [MM.II.1 (87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3]; PMID:34111452 [AM.II.1 (87)]; PMID:37740092 [P25] |
| 101017 | F | 210232 | 2,2 | German | Recurrent upper respiratory tract infections,Sinusitis | PMID:34975878 [Fam.F003:P003] | |
| 101019 | F | 210316 | 6,6 | German | Recurrent upper respiratory tract infections,Sinusitis | PMID:34975878 [Fam.F004:P004] | |
| 101020 | F | 210008 |
28,- | German | Recurrent upper respiratory tract infections,Sinusitis | 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 | 24,24 | German | Recurrent upper respiratory tract infections,Sinusitis | PMID:34975878 [Fam.F006:P006] | |
| 101022 | M | 210482 | 16,16 | German | Recurrent upper respiratory tract infections,Sinusitis | PMID:34975878 [Fam.F007:P007] | |
| 101024 | F | 210927 | 33,33 | Recurrent upper respiratory tract infections,Sinusitis | PMID:34975878 [Fam.F009:P009] | ||
| 101025 | M | 210937 | 43,43 | Recurrent upper respiratory tract infections,Sinusitis | PMID:34975878 [Fam.F010:P010] | ||
| 101026 | M | 210215 | 20,20 | Recurrent upper respiratory tract infections,Sinusitis | PMID:34975878 [Fam.F011:P011] | ||
| 101027 | M | 211035 | 28,28 | Recurrent upper respiratory tract infections,Sinusitis | PMID:34975878 [Fam.F012:P012] | ||
| 101028 | F | 210750 | - | German | Sinusitis | PMID:34975878 [Fam.F013:P013] | |
| 101038 | F | 210182 |
-,- | Caucasian | Recurrent respiratory infections,Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.6(B.II.4)]; PMID:30250467 [B.II.4]; PMID:29729943 [Fam.B:II.6(B.II.4 (16))]; PMID:34975878 [Fam.F014:III.6(P015)]; PMID:27418640 [P14(5)]; PMID:34111452 [B.II.4 (16)] |
| 101047 | F | 210205 |
-,- | Caucasian | Otitis media,Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.5(A.II.3)]; PMID:29729943 [Fam.A:II.5(A.II.3 (3))]; PMID:34111452 [A.II.3 (3)] |
| 101053 | F | 211287 | - | Sinusitis | PMID:34975878 [Fam.F022:P022] | ||
| 101065 | F | 211364 | -,- | Otitis media,Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F033:P033] | |
| 101076 | F | 210226 | 18 | German | Sinusitis | PMID:34975878 [Fam.F041:P041] | |
| 101080 | F | 211150 | 61 | Sinusitis | PMID:34975878 [Fam.F046:P046] | ||
| 101082 | F | 211226 | - | Recurrent upper respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
| 101084 | F | 211225 | - | Sinusitis | PMID:34975878 [Fam.F050:P050] | ||
| 101086 | M | 210934 | - | German | Recurrent upper respiratory tract infections | PMID:34975878 [Fam.F052:P052] | |
| 101087 | M | 211335 | - | German | Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F053:P053] |
| 101088 | M | 211560 | 40 | German | Sinusitis | PMID:34975878 [Fam.F054:P054] | |
| 101089 | M | 211033 | - | Recurrent upper respiratory tract infections | PMID:34975878 [Fam.F055:P055] | ||
| 101092 | M | 210772 | -,42 | Recurrent upper respiratory tract infections,Sinusitis | PMID:34975878 [Fam.F058:P058] | ||
| 101093 | M | 211289 | - | German | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
| 101095 | M | 210286 | 7 | Otitis media | PMID:34975878 [Fam.F060:P060] | ||
| 101101 | M | 211414 | - | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.G:II.1] | |
| 101102 | M | 211415 | - | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F064:P064] | |
| 101115 | F | 210778 | -,- | Caucasian | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
| 101118 | F | 210735 | 20 | Sinusitis | Thrombophilia due to Factor V Leiden | PMID:31057532 [Fam.C:II.1] | |
| 101119 | M | 210264 | 3 | Otitis media | PMID:34975878 [Fam.F070:P070] | ||
| 101120 | M | 210221 | - | German | Sinusitis | PMID:34975878 [Fam.F071:P071] | |
| 101122 | M | 210197 |
- | Italian | Sinusitis | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
| 101124 | F | 210216 | - | German | Sinusitis | PMID:34975878 [Fam.F075:P075] | |
| 101125 | M | 210429 | - | German | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 1 | PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060] |
| 101127 | F | 210318 | 33 | German | Sinusitis | PMID:34975878 [Fam.F077:P077] | |
| 101128 | M | 210897 | 18,- | Caucasian | Recurrent upper respiratory tract infections,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [OO.II.1 (95)]; PMID:34111452 [AO.II.1 (95)]; PMID:37740092 [P07] |
| 101130 | F | 210465 | 20 | German | Sinusitis | PMID:34975878 [Fam.F079:P079] | |
| 101131 | F | 210337 | 52 | German | Sinusitis | PMID:34975878 [Fam.F080:P080] | |
| 101134 | F | 210901 | - | Sinusitis | PMID:34975878 [Fam.F083:P083] | ||
| 101136 | M | 210356 | - | Sinusitis | PMID:34975878 [Fam.F085:P085] | ||
| 101137 | M | 211224 | - | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F398:P398] | |
| 101145 | M | 211221 |
- | German | Recurrent upper 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 | 12,11 | German | Recurrent upper respiratory tract infections,Sinusitis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES55] |
| 101155 | M | 210235 | - | German | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [JJ.II.1 (83)]; PMID:34975878 [Fam.F098:P098]; PMID:34111452 [AJ.II.1 (83)] |
| 101162 | F | 211457 | - | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F103:P103] | |
| 101177 | F | 212111 | 1 | Otitis media | PMID:34975878 [Fam.F407:P407] | ||
| 101178 | M | 210542 | 17,17 | Recurrent upper respiratory tract infections,Sinusitis | PMID:34975878 [Fam.F114:P114] | ||
| 101186 | F | 211471 | - | Sinusitis | PMID:34975878 [Fam.F118:P118] | ||
| 101197 | F | 214344 | - | Egyptian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES18] |
| 101199 | F | 211483 | - | German | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [YY.II.1 (127)]; PMID:34975878 [Fam.F122:P122]; PMID:34111452 [AY.II.1 (127)]; PMID:37740092 [P10] |
| 101203 | M | 211488 | - | Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F125:P125] | |
| 101204 | M | 211492 | - | German | Sinusitis | PMID:34975878 [Fam.F126:P126] | |
| 101206 | F | 211500 | - | Recurrent upper respiratory tract infections | PMID:34975878 [Fam.F129:P129] | ||
| 101213 | M | 210014 |
28 | German | Recurrent upper respiratory tract infections | 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)] |
| 101260 | M | 212144 | 2 | Iranian | Recurrent upper 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 upper respiratory tract infections,Sinusitis | 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 | Otitis media | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.3]; PMID:25468195 [Fam.C:II.3(P4)]; PMID:26707784 [P8] |
| 101312 | M | 212149 | 7,7 | Lebanese | Recurrent upper respiratory tract infections,Sinusitis | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.1(P2)]; PMID:26707784 [P16] |
| 101313 | F | 212149 | 10,10 | Lebanese | Recurrent upper respiratory tract infections,Sinusitis | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17] |
| 101356 | F | 210135 | 9 | Arab | Otitis media | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2] |
| 101359 | F | 212157 | - | Turkish | Otitis media | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.8:II.1] |
| 101370 | F | 210424 | - | German | Sinusitis | PMID:34975878 [Fam.F133:P133] | |
| 101375 | F | 212162 | 3 | Iranian | Recurrent upper respiratory tract infections | 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 | 15,6 | Iranian | Recurrent upper respiratory tract infections,Sinusitis | 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] |
| 101379 | M | 212163 | 2 | Iranian | Sinusitis | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10] |
| 101380 | M | 212163 | -,- | Iranian | Recurrent upper respiratory tract infections,Sinusitis | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.1(P4)]; PMID:26707784 [Fam.C:IV.5(P26)]; PMID:28512785 [P11] |
| 101382 | M | 210641 | 20 | German | Sinusitis | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.3(II.3)]; PMID:16384931 [Fam.C:II.3(P5)]; PMID:19426217 [Fam.C:II.3(P5)]; PMID:28861081 [Fam.3:II.3(P5)] |
| 101384 | M | 210217 | - | German | Sinusitis | 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 infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F135:P135]; PMID:31857261 [Patient 9] |
| 101391 | F | 211018 | - | Sinusitis | PMID:34975878 [Fam.F137:P137] | ||
| 101399 | F | 210189 |
- | German | Recurrent upper respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
| 101401 | F | 210205 |
-,17,- | Caucasian | Recurrent respiratory infections,Recurrent upper respiratory tract infections,Sinusitis | 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)]; PMID:34111452 [A.II.9 (6)] |
| 101402 | M | 210690 | - | German | Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F138:P138] |
| 101403 | M | 210189 |
- | German | Recurrent upper respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
| 101421 | F | 212170 | 6,3 | Iranian | Otitis media,Recurrent upper respiratory tract infections | 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 infections | 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 respiratory infections,Recurrent upper respiratory tract infections,Sinusitis | 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)]; PMID:34111452 [A.II.5 (4)] |
| 101426 | M | 212173 | - | Iranian | Recurrent upper and lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 2]; PMID:26707784 [Fam.E:IV.2(P28)]; PMID:26993986 [Fam.F17:II.1(1)]; PMID:28512785 [P7] |
| 101435 | F | 212171 | 3 | Lebanese | Otitis media | Immunodeficiency, common variable, 8 | PMID:26707784 [P29(II.1)] |
| 101458 | F | 210656 |
-,- | Georgian | Recurrent respiratory infections,Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [E.II.3 (23)]; PMID:27418640 [P19(5)]; PMID:34111452 [E.II.3 (23)] |
| 101461 | M | 210929 | -,- | German | Recurrent upper respiratory tract infections,Sinusitis | 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 | Recurrent upper respiratory tract infections | 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 infections,Sinusitis | 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 |
41,- | German | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
| 101490 | M | 211009 | - | Sinusitis | PMID:34975878 [Fam.F164:P164] | ||
| 101495 | M | 212458 | -,1 | Taiwanese | Recurrent upper respiratory tract infections,Sinusitis | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
| 101501 | F | 212459 | -,- | British | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:II.2(P4)] |
| 101509 | F | 212459 | -,- | British | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.2(P1)] |
| 101511 | M | 212459 | -,- | British | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.3(P2)] |
| 101512 | M | 212459 | -,- | British | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.4(P3)] |
| 101514 | M | 210220 |
- | German | Recurrent upper respiratory tract infections | 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 infections | PMID:34975878 [Fam.F174:P174] | ||
| 101529 | M | 211278 | 2 | Otitis media | PMID:34975878 [Fam.F176:P176] | ||
| 101530 | M | 212460 | -,- | British | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.3(P5)] |
| 101532 | F | 212460 | -,- | British | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.5(P6)] |
| 101534 | M | 212460 | -,- | British | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.1(P11)] |
| 101538 | F | 212460 | -,- | British | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.3(P7)] |
| 101541 | M | 212461 | -,- | Slovenian | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.C:II.1(P8)] |
| 101543 | F | 210011 | 23 | Sinusitis | PMID:34975878 [Fam.F179:P179] | ||
| 101546 | F | 212462 | -,- | Irish | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:II.1(P10)] |
| 101548 | M | 212462 | -,- | Irish | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:III.1(P9)] |
| 101549 | F | 212463 | -,- | British | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:I.1(P13)] |
| 101551 | M | 212463 | -,- | British | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:II.1(P12)] |
| 101552 | M | 212464 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.F:II.1(P14)] |
| 101553 | M | 210256 | -,- | German | Recurrent upper respiratory tract infections,Sinusitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
| 101560 | M | 212465 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.2(P15)] |
| 101561 | F | 212465 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.3(P16)] |
| 101563 | M | 212465 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.4(P17)] |
| 101565 | M | 211008 |
- | Caucasian | Recurrent upper respiratory tract infections | 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 | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN94]; PMID:18835223 [UPN94]; GRID:000796 [UPN94(II.1)] |
| 101569 | F | 210220 |
- | German | Recurrent upper respiratory tract infections | 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] |
| 101578 | M | 210205 |
-,30 | German | Recurrent respiratory infections,Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)]; PMID:34111452 [A.II.8 (5)] |
| 101579 | F | 210773 | - | Turkish | Recurrent upper respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P1]; PMID:31857261 [Patient 13] |
| 101587 | M | 212604 |
- | Scottish | Otitis media | ARPC1B deficiency | PMID:28368018 [Fam.2:II.1(P2)]; PMID:30771411 [P10(II.1)]; PMID:34673575 [Fam.2:II.3(P2)] |
| 101588 | M | 210935 | 42,42 | Recurrent upper respiratory tract infections,Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F206:P206] | |
| 101591 | M | 212604 |
- | Scottish | Otitis media | ARPC1B deficiency | PMID:28368018 [Fam.2:II.2(P3)]; PMID:30771411 [Fam.P10:II.2(P11)]; PMID:34673575 [Fam.2:II.2(P3)] |
| 101597 | M | 212618 |
0 | Jewish | Otitis media | ARPC1B deficiency | PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6] |
| 101616 | F | 211098 | - | Sinusitis | PMID:34975878 [Fam.F211:P211] | ||
| 101630 | M | 211089 |
-,- | German | Recurrent upper respiratory tract infections,Sinusitis | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:34975878 [Fam.F219:P219]; PMID:34975878 [Fam.F219:P219]; PMID:32278790 [BR.I.1]; PMID:32278790 [BR.I.1]; PMID:150198 [Fam.DC:II.2(453)]; PMID:150198 [Fam.DC:II.2(453)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)] |
| 101633 | M | 210945 | -,- | Recurrent upper respiratory tract infections,Sinusitis | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F220:P220]; PMID:30941118 [Fam.846:II.1(Pt#49)] | |
| 101635 | F | 211154 | -,- | German | Recurrent upper respiratory tract infections,Sinusitis | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
| 101651 | M | 210939 | 21 | Recurrent upper respiratory tract infections | PMID:34975878 [Fam.F226:P226] | ||
| 101652 | M | 212629 |
- | Nepalese | Otitis media | ARPC1B deficiency | PMID:30771411 [P4(II.1)] |
| 101664 | M | 211085 | - | Recurrent upper respiratory tract infections | PMID:34975878 [Fam.F232:P232] | ||
| 101667 | M | 212631 |
- | Moroccan | Otitis media | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
| 101673 | M | 211156 | -,- | Otitis media,Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
| 101693 | M | 212637 |
-,- | Nepalese | Otitis media,Recurrent upper respiratory tract infections | ARPC1B deficiency | PMID:30771411 [P14(II.1)] |
| 101706 | F | 211545 | - | Sinusitis | PMID:34975878 [Fam.F245:P245] | ||
| 101711 | M | 210925 |
- | Turkish | Recurrent upper respiratory tract infections | 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)] |
| 101712 | M | 212643 | - | Jordanian | Otitis media | Agammaglobulinemia 4 | PMID:25893637 [P1(II.6)] |
| 101713 | F | 212643 | - | Jordanian | Otitis media | Agammaglobulinemia 4 | PMID:25893637 [Fam.P1:II.5(P2)] |
| 101717 | F | 210260 |
-,- | Caucasian | Recurrent respiratory infections,Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)]; PMID:34111452 [C.II.3 (19)] |
| 101731 | M | 210300 |
1 | North American | Otitis media | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.3(P2)] |
| 101732 | M | 210300 |
- | North American | Otitis media | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.4(P3)] |
| 101735 | F | 210300 |
- | North American | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.8(P5)] |
| 101736 | M | 210300 |
- | North American | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.9(P6)] |
| 101740 | M | 210300 |
1 | North American | Otitis media | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.13(P9)] |
| 101741 | F | 210300 |
1 | North American | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.14(P10)] |
| 101744 | F | 210182 |
-,7,- | Caucasian | Recurrent respiratory infections,Recurrent upper respiratory tract infections,Sinusitis | 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)]; PMID:34111452 [B.III.2 (17)] |
| 101753 | M | 210024 | - | Japanese | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
| 101754 | M | 210024 | - | Japanese | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.2(P11)] |
| 101764 | F | 210031 | - | Dutch | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
| 101768 | M | 210789 | -,- | Recurrent upper respiratory tract infections,Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
| 101773 | M | 210876 |
- | German | Recurrent upper 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] |
| 101774 | M | 210908 |
- | Argentinian | Sinusitis | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
| 101775 | M | 210908 |
- | Argentinian | Recurrent upper respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
| 101776 | M | 210912 | 15 | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F251:P251] | |
| 101778 | M | 210920 | - | Libyan | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:26745254 [Fam.P1:II.3(P2)] |
| 101783 | F | 210923 |
-,- | German | Otitis media,Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.II:I.2(P1)] |
| 101789 | M | 210950 |
- | Swiss | Recurrent upper and lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P7:II.2(P8)] |
| 101794 | F | 211030 | - | Italian | Recurrent upper respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
| 101797 | M | 211108 | - | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [QQ.II.1 (97)]; PMID:34975878 [Fam.F258:P258]; PMID:34111452 [AQ.II.1 (97)] |
| 101799 | M | 211120 | - | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [XX.II.1]; PMID:29729943 [XX.II.1 (126)]; PMID:34111452 [AX.II.1 (126)]; PMID:37740092 [P17] |
| 101800 | M | 215769 |
-,- | Caucasian | Recurrent upper respiratory tract infections,Sinusitis | 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 | -,- | German | Otitis media,Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] |
| 101802 | F | 211221 |
-,- | German | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
| 101807 | F | 211431 | - | Recurrent upper respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F264:P264] | |
| 101808 | F | 211441 | - | Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F265:P265] | |
| 101812 | F | 211521 | -,- | Recurrent upper respiratory tract infections,Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F271:P271] | |
| 101814 | F | 211527 | - | German | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:34975878 [Fam.F274:P274]; PMID:32278790 [AK.I.1]; PMID:150198 [Fam.CP:435] |
| 101826 | F | 211561 | 33 | German | Sinusitis | PMID:34975878 [Fam.F290:P290] | |
| 101833 | M | 210887 | - | Recurrent upper respiratory tract infections | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
| 101840 | F | 211591 | -,- | Recurrent upper respiratory tract infections,Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
| 101843 | M | 211371 | - | German | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F404:P404] |
| 101847 | T | 211632 | - | Sinusitis | PMID:34975878 [Fam.F308:P308] | ||
| 101883 | M | 211765 | - | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F405:P405] | |
| 101884 | M | 212237 |
- | Sudanese | Recurrent upper 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 infections | PMID:34975878 [Fam.F326:P326] | ||
| 101902 | M | 211775 | - | Sinusitis | PMID:34975878 [Fam.F333:P333] | ||
| 101922 | F | 211937 | - | Sinusitis | PMID:34975878 [Fam.F342:P342] | ||
| 101946 | F | 211943 | - | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F406:P406] | |
| 101948 | F | 211950 | - | Sinusitis | PMID:34975878 [Fam.F349:P349] | ||
| 101957 | M | 212517 | 25 | Sinusitis | PMID:34975878 [Fam.F391:P391] | ||
| 101959 | M | 210641 | 18 | German | Recurrent upper respiratory tract infections | 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 upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.1(A.II.1)] |
| 101962 | M | 212237 |
- | Sudanese | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.2(A.II.2)] |
| 101973 | F | 214053 |
- | Turkish | Recurrent upper respiratory tract infections | 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 infections,Sinusitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.3(D.II.2)] |
| 101975 | F | 214053 |
- | Turkish | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
| 101982 | F | 214072 | - | Omani | Sinusitis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES06] |
| 102031 | M | 214221 | - | Sinusitis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES07] | |
| 102047 | M | 214258 | - | Sinusitis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES13] | |
| 102052 | M | 214264 | - | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES37] | |
| 102074 | F | 214294 | - | Egyptian | Otitis media | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES27]; PMID:32738296 [P2] |
| 102084 | M | 214303 | - | Egyptian | Sinusitis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES02] |
| 102085 | M | 214304 | - | Egyptian | Otitis media | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES12] |
| 102090 | M | 214309 | - | Sinusitis | Immunodeficiency 58 | PMID:34390440 [HIES29] | |
| 102119 | M | 214343 | - | Egyptian | Sinusitis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES15] |
| 102124 | F | 214351 |
- | Sudanese | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.5(B.II.4)] |
| 102129 | F | 214351 |
- | Sudanese | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.1(B.II.1)] |
| 102134 | M | 214352 |
-,- | Sudanese | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.6(C.II.6)] |
| 102138 | M | 214393 |
- | North American | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:II.2(F)]; PMID:37876937 [Fam.A:II.1(A.3)] |
| 102142 | M | 214393 |
- | North American | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:III.2(B)]; PMID:37876937 [Fam.A:III.2(A.2)] |
| 102157 | F | 214681 |
- | Italian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(R.II.5 (45))]; PMID:34111452 [R.II.5 (45)] |
| 102168 | M | 214767 |
2 | Georgian | Recurrent upper respiratory tract infections | Agammaglobulinemia 14 | PMID:33571536 [P-FR1(II.3)] |
| 102182 | F | 214681 |
- | Italian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:III.1(R.III.1 (46))]; PMID:34111452 [R.III.1 (46)] |
| 102216 | F | 214916 |
- | Belgian | Sinusitis | Severe congenital neutropenia 11 | PMID:32325141 [Patient(II.1)] |
| 102222 | M | 214917 | -,28 | German | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
| 102223 | F | 214918 | 58 | German | Sinusitis | Familial autoinflammatory Behcet-like syndrome | PMID:35486341 [P191] |
| 102224 | F | 214919 | - | German | Recurrent upper respiratory tract infections | DiGeorge syndrome | PMID:35486341 [P017] |
| 102239 | F | 214923 |
- | Brasilian | Otitis media | ARPC1B deficiency | GRID:000604 [case(II.2)]; PMID:37349293 [Fam.B:II.1(Patient)] |
| 102247 | F | 214924 |
10 | Afghanistani | Recurrent viral upper respiratory tract infections | ARPC1B deficiency | PMID:33679784 [Fam.II-6:II.3(II-3)] |
| 102270 | F | 214928 |
- | Japanese | Otitis media | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
| 102427 | M | 214950 |
0 | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.B:II.3(P5)] |
| 102436 | F | 214956 |
- | Bulgarian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:III.1(P7)] |
| 102439 | M | 214956 |
- | Bulgarian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
| 102444 | M | 214957 |
- | Slovak | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
| 102449 | F | 214958 |
0 | Mexican/Salvadoran | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
| 102453 | F | 214959 |
1 | Turkish | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.F:II.2(P10)] |
| 102474 | M | 214963 |
- | Admixed | Otitis media | Hyper-IgE recurrent infection syndrome 4B | PMID:33771552 [Patient(II.1)] |
| 102477 | M | 214964 |
-,- | Turkish | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4B | PMID:30309848 [Patient(III.5)] |
| 102530 | M | 214966 |
- | Japanese | Sinusitis | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
| 102630 | M | 214970 |
- | European | Otitis media | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
| 102645 | M | 214974 |
1 | Caucasian | Otitis media | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
| 102648 | M | 214975 |
4 | Czech | Recurrent upper respiratory tract infections | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.1(Patient A)] |
| 102649 | M | 214975 |
- | Czech | Recurrent upper respiratory tract infections | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.2(Patient B)] |
| 102654 | F | 214978 |
1,1 | North American | Recurrent upper respiratory tract infections,Sinusitis | Immunodeficiency 8 | PMID:19097825 [Patient(II.2)]; PMID:18836449 [Patient(II.2)] |
| 102815 | M | 214994 | - | Recurrent upper respiratory tract infections | Immunodeficiency 8 | PMID:34913575 [Patient] | |
| 102865 | F | 214996 |
- | Italian | Otitis media | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)] |
| 102897 | M | 215007 |
0 | Turkish | Otitis media | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)] |
| 102911 | M | 215012 | - | Recurrent viral upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P1]; PMID:37419334 [P1(22)] | |
| 102915 | F | 215016 | -,- | Otitis media,Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P4]; PMID:37419334 [P4(22)] | |
| 102916 | F | 215017 | - | Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P5]; PMID:37419334 [P5(22)] | |
| 102917 | M | 215018 | - | Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P6]; PMID:37419334 [P6(22)] | |
| 102919 | F | 215020 | - | Otitis media | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P8(II.1)]; PMID:37419334 [P8(22)] | |
| 102920 | F | 215021 | - | Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P9]; PMID:37419334 [P9(22)] | |
| 102925 | M | 215026 | - | Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P14]; PMID:37419334 [P14(22)] | |
| 102927 | M | 215028 | - | Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P16]; PMID:37419334 [P16(22)] | |
| 102928 | M | 215029 | - | Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P17] | |
| 102930 | F | 215031 | - | Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P19]; PMID:37419334 [P19(22)] | |
| 102931 | F | 215032 | - | Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P20]; PMID:37419334 [P20(22)] | |
| 102932 | M | 215033 | - | Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P21]; PMID:37419334 [P21(22)] | |
| 102933 | M | 215034 | - | Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P22]; PMID:37419334 [P22(22)] | |
| 102936 | M | 215037 | - | Recurrent upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P25]; PMID:37419334 [P25(22)] | |
| 102937 | F | 215038 | - | Otitis media | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P26] | |
| 102942 | F | 215041 | - | Italian | Sinusitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P33]; PMID:37419334 [P33(22)] |
| 102945 | F | 215044 | - | Italian | Sinusitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P36]; PMID:37419334 [P36(22)] |
| 102948 | F | 215047 | - | Italian | Sinusitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P39]; PMID:37419334 [P39(22)] |
| 102993 | F | 215077 |
- | Turkish | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 2] |
| 103002 | F | 215080 |
- | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 5] | |
| 103005 | M | 215081 |
30 | North American | Sinusitis | ?Chronic infections and chronic pelvic pain | PMID:23861857 [Patient(II.1)] |
| 103009 | F | 215082 |
- | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 6] | |
| 103012 | M | 215083 |
- | Turkish | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 7] |
| 103015 | M | 215084 |
- | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 8] | |
| 103018 | M | 215085 |
- | Japanese | Sinusitis | Immunodeficiency 35 | PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient] |
| 103027 | F | 215087 |
- | Hungarian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN133]; PMID:18706697 [Fam.2:I.2(N1)] |
| 103031 | M | 215088 | - | Hungarian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN134]; PMID:18706697 [Fam.3:K] |
| 103032 | M | 215089 |
- | Hungarian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.4:II.1(S1)] |
| 103038 | F | 215091 | - | Lebanese | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.6:F1] |
| 103039 | M | 215092 |
- | Lebanese | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.7:II.1(CA1)] |
| 103044 | M | 215094 | - | Swedish | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.9:SW] |
| 103051 | M | 215095 |
- | Finnish | Otitis media | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
| 103062 | M | 215096 |
-,- | Finnish | Otitis media,Recurrent upper respiratory tract infections | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
| 103067 | F | 215097 |
- | Finnish | Recurrent upper respiratory tract infections | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F3:II.3(P4)] |
| 103110 | M | 215099 |
- | Omani | Otitis media | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.2(P7)] |
| 103293 | M | 215115 | - | Otitis media | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P6] | |
| 103448 | F | 215129 |
- | Saudi | Otitis media | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.1:II.2(P1)] |
| 103482 | F | 215136 |
- | British | Recurrent upper respiratory tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.C:II.1(P4)] |
| 103529 | F | 215153 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J001:I.1(Proband)]; PMID:21288777 [Fam.1:I.2(Proband)] |
| 103531 | F | 215153 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J001:II.1(Daughter1)]; PMID:21288777 [Fam.1:II.1(Daughter)] |
| 103547 | M | 215157 |
- | Mexican | Otitis media | ARPC1B deficiency | PMID:36708766 [Fam.D:II.4(P6)] |
| 103556 | F | 215158 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:III.1(Daughter)]; PMID:21288777 [Fam.2:III.1(Daughter)] |
| 103560 | M | 215158 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:II.2(Proband)]; PMID:21288777 [Fam.2:II.2(Proband)]; PMID:23584561 [T3-2] |
| 103566 | F | 215160 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J006:Proband]; PMID:28587312 [P14]; PMID:21288777 [F384S]; PMID:23584561 [T2-2] |
| 103567 | F | 215161 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:III.1(Daughter)]; PMID:28587312 [P40]; PMID:21288777 [Fam.3:III.1(Daughter)] |
| 103569 | F | 215161 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:II.1(Proband)]; PMID:21288777 [Fam.3:II.1(Proband)] |
| 103577 | F | 215163 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J009:Proband]; PMID:21288777 [S611N] |
| 103584 | F | 215166 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.2(Proband)]; PMID:21288777 [Fam.4:II.2(Proband)] |
| 103587 | F | 215166 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.1(Sister)]; PMID:21288777 [Fam.4:II.1(sister)] |
| 103604 | M | 215170 |
- | Asian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J016:II.2(Proband)]; PMID:21288777 [Fam.5:II.1(Proband)] |
| 103607 | F | 215171 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.1(Proband)]; PMID:21288777 [Fam.6:II.1(Proband)] |
| 103612 | M | 215171 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.4(Brother2)]; PMID:28587312 [P32]; PMID:21288777 [Fam.6:II.4(brother)] |
| 103622 | M | 215175 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.3(Proband)]; PMID:21288777 [Fam.7:II.3(Proband)] |
| 103626 | F | 215175 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.2(Sister2)]; PMID:21288777 [Fam.7:II.2(sister2)] |
| 103629 | F | 215175 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:III.2(Niece2)]; PMID:21288777 [Fam.7:III.2(niece)] |
| 103633 | F | 215177 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:II.1(Daughter)]; PMID:21288777 [Fam.12:II.1(daughter)] |
| 103635 | M | 215177 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:I.2(Proband)]; PMID:21288777 [Fam.12:I.1(proband)] |
| 103640 | M | 215179 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J053:Proband]; PMID:21288777 [P639A] |
| 103641 | F | 215180 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J054:Proband]; PMID:21288777 [S465A] |
| 103647 | F | 215182 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.1(Daughter)]; PMID:21288777 [Fam.8:II.1(proband)] |
| 103648 | F | 215182 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:I.1(Proband)]; PMID:21288777 [Fam.8:I.2(mother)]; PMID:23584561 [T3-1] |
| 103650 | F | 215182 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.2(Daughter2)]; PMID:21288777 [Fam.8:II.2(sister)] |
| 103655 | F | 215184 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:II.1(Daughter)]; PMID:21288777 [Fam.9:II.1(Daughter)] |
| 103656 | M | 215184 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:I.1(Proband)]; PMID:21288777 [Fam.9:I.1(proband)] |
| 103657 | M | 215185 | - | European/American | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J088:Proband]; PMID:21288777 [R382L] |
| 103666 | M | 215188 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J112:II.1(Son)]; PMID:21288777 [Fam.11:II.1(son)] |
| 103667 | M | 215188 |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J112:I.1(Proband)]; PMID:21288777 [Fam.11:I.1(proband)]; PMID:23584561 [T3-7] |
| 103671 | F | 215190 | - | North American | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J121:Proband]; PMID:21288777 [Q644del]; PMID:23584561 [T2/3-8/10] |
| 103716 | M | 215229 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J013:Proband]; PMID:21288777 [F384L] |
| 103717 | F | 215230 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J015:Proband]; PMID:28587312 [P18]; PMID:21288777 [F621V] |
| 103788 | M | 215242 |
-,- | South Korean | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
| 103880 | F | 215269 |
- | Finnish | Recurrent upper respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
| 103914 | F | 215270 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K1:P1] |
| 103916 | M | 215271 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K2:P2] |
| 103917 | F | 215272 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:II.2(P4)] |
| 103918 | M | 215272 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:I.1(P3)] |
| 103921 | F | 215273 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K4:P5] |
| 103922 | F | 215274 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K5:P6] |
| 103923 | M | 215275 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:II.1(P8)] |
| 103925 | F | 215275 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:I.2(P7)] |
| 103926 | F | 215276 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K7:P9] |
| 103927 | F | 215277 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K8:P10] |
| 103928 | M | 215278 | -,- | Algerian | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K9:P11] |
| 103929 | M | 215279 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K10:P12] |
| 103930 | F | 215280 | -,- | Moroccan | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K11:P13] |
| 103931 | M | 215281 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.2(P16)] |
| 103933 | F | 215281 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:I.2(P14)] |
| 103935 | F | 215282 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K13:P17] |
| 103936 | M | 215283 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K14:P18] |
| 103937 | F | 215284 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K15:P19] |
| 103939 | F | 215286 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K17:P21] |
| 103940 | F | 215287 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:P22] |
| 103944 | M | 215287 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:II.2(P23)] |
| 103946 | F | 215290 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K20:P25] |
| 103947 | F | 215291 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K21:P26] |
| 103948 | F | 215292 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K22:P27] |
| 103949 | M | 215293 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.2(P30)] |
| 103952 | M | 215293 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.1(P29)] |
| 103953 | F | 215294 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K24:P31] |
| 103954 | M | 215295 | -,- | Algerian | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K25:P32] |
| 103955 | F | 215296 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K26:P33] |
| 103956 | M | 215297 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K27:P34] |
| 103958 | M | 215298 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:I.1(P35)] |
| 103961 | F | 215299 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K29:P36] |
| 103962 | F | 215300 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:II.1(P38)] |
| 103965 | F | 215301 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K31:P39] |
| 103968 | F | 215304 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K34:P42] |
| 103969 | F | 215305 |
-,- | Pakistani | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.2(P45)] |
| 103971 | F | 215305 |
-,- | Pakistani | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:I.2(P43)] |
| 103972 | M | 215305 |
-,- | Pakistani | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.1(P44)] |
| 103974 | M | 215307 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K37:P47] |
| 103975 | F | 215308 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:II.1(P49)] |
| 103977 | F | 215308 |
-,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:I.2(P48)] |
| 103978 | M | 215309 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K39:P50] |
| 103979 | M | 215310 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K40:P51] |
| 103980 | F | 215311 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K41:P52] |
| 103981 | M | 215312 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K42:P53] |
| 103982 | F | 215313 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K43:P54] |
| 103983 | M | 215314 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K44:P55] |
| 103984 | M | 215315 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K45:P56] |
| 103985 | M | 215316 | -,- | Portuguese | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K46:P57] |
| 103986 | M | 215317 | -,- | French | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K47:P58] |
| 104002 | F | 215323 |
- | Recurrent upper respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
| 104052 | F | 215328 |
- | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN110]; GRID:000796 [UPN110(II.1)] |
| 104053 | M | 215329 | -,- | Otitis media,Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:19891924 [Patient] | |
| 104054 | F | 215330 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN70]; PMID:18835223 [UPN70]; GRID:000796 [UPN70] |
| 104056 | M | 215332 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN114]; GRID:000796 [UPN114] |
| 104057 | M | 215333 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN86]; GRID:000796 [UPN86] |
| 104062 | F | 215338 | - | Colombian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN29]; PMID:18835223 [UPN29]; GRID:000796 [UPN29] |
| 104063 | M | 215339 | - | Colombian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN31]; PMID:18835223 [UPN31]; GRID:000796 [UPN31] |
| 104064 | M | 215340 | - | Middle Eastern | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN43]; GRID:000796 [UPN43] |
| 104068 | F | 215344 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN126]; GRID:000796 [UPN126] |
| 104073 | M | 215349 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN135]; GRID:000796 [UPN135] |
| 104074 | F | 215350 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN79]; PMID:18835223 [UPN79]; GRID:000796 [UPN79] |
| 104075 | M | 215351 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN98]; GRID:000796 [UPN98] |
| 104076 | F | 215352 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN25]; GRID:000796 [UPN25] |
| 104077 | F | 215353 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN37]; GRID:000796 [UPN37] |
| 104078 | M | 215354 | - | Middle Eastern | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN44]; GRID:000796 [UPN44] |
| 104080 | M | 215356 | - | Middle Eastern | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN61]; GRID:000796 [UPN61] |
| 104081 | M | 215357 | - | Middle Eastern | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN72]; GRID:000796 [UPN72] |
| 104082 | M | 215358 | - | Middle Eastern | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN77]; GRID:000796 [UPN77] |
| 104086 | M | 215362 |
- | Middle Eastern | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN60]; GRID:000796 [UPN60(I.1)] |
| 104088 | F | 215364 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN118]; GRID:000796 [UPN118] |
| 104091 | F | 215367 |
- | European | Recurrent upper respiratory tract infections | 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 infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN46]; GRID:000796 [UPN46] |
| 104093 | M | 215369 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN102]; GRID:000796 [UPN102] |
| 104098 | F | 215374 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN16]; PMID:18835223 [UPN16]; GRID:000796 [UPN16] |
| 104099 | M | 215375 | - | Colombian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN32]; PMID:18835223 [UPN32]; GRID:000796 [UPN32] |
| 104100 | M | 215376 | - | Colombian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN33]; PMID:18835223 [UPN33]; GRID:000796 [UPN33] |
| 104102 | M | 215378 | - | Middle Eastern | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN45]; GRID:000796 [UPN45] |
| 104105 | M | 215381 |
- | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN106]; GRID:000796 [Fam.UPN106:II.1] |
| 104107 | M | 215383 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN125]; GRID:000796 [UPN125] |
| 104108 | M | 215384 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN104]; GRID:000796 [UPN104] |
| 104109 | M | 215385 | - | North American | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN49]; GRID:000796 [UPN49] |
| 104110 | F | 215386 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN109]; GRID:000796 [UPN109] |
| 104111 | M | 215387 | - | Latino | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN27]; GRID:000796 [UPN27] |
| 104114 | M | 215390 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN116]; GRID:000796 [UPN116] |
| 104148 | M | 215392 |
- | Syrian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.A:III.5(P1)] |
| 104158 | M | 215393 |
- | Australian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
| 104165 | M | 215394 |
- | Indian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.C:II.4(P3)] |
| 104171 | M | 215395 |
- | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:III.1(P5)] | |
| 104174 | M | 215395 |
- | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:II.1(P4)] | |
| 104177 | M | 215396 |
- | Maori | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.E:I.1(P6)] |
| 104190 | F | 215399 | - | Latino | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN30] |
| 104191 | F | 215400 | - | Middle Eastern | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN136] |
| 104193 | M | 215402 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN147] |
| 104195 | M | 215404 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN152] |
| 104196 | M | 215405 |
- | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN153(I.1)] |
| 104202 | F | 215409 | - | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN159] |
| 104203 | F | 215410 |
- | European | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN160(II.2)] |
| 104252 | F | 215428 | - | North American | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P17]; PMID:21288777 [S668F] |
| 104268 | M | 215444 |
- | Ashkenazi Jewish | Sinusitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
| 104296 | M | 215449 |
- | Chinese (China) | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:21107604 [Case(II.1)] |
| 104300 | F | 215450 |
- | Greek | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:20149460 [Patient] |
| 104307 | F | 215451 |
- | North American | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:19483664 [Patient(II.1)]; PMID:26292779 [Co2] |
| 104332 | F | 215471 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [W479C]; PMID:23584561 [T3-17]; PMID:26292779 [H3] |
| 104333 | F | 215472 | - | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [G618D]; PMID:23584561 [T2-5] | |
| 104336 | F | 215475 | - | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [N472D]; PMID:23584561 [T2-9] | |
| 104340 | M | 215479 | - | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [V637M]; PMID:23584561 [T2-15] | |
| 104349 | M | 215488 | - | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [del371-380]; PMID:23584561 [T3-14] | |
| 104352 | F | 215491 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H2] |
| 104355 | M | 215494 | 1 | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H8]; PMID:22126402 [case] | |
| 104356 | M | 215495 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P1] |
| 104357 | M | 215496 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P2] |
| 104358 | F | 215497 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P3] |
| 104359 | F | 215498 | - | French Caribbean | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P4] |
| 104360 | M | 215499 | - | French Caribbean | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P5] |
| 104362 | F | 215501 | - | Pakistani | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P7] |
| 104363 | M | 215502 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P8] |
| 104364 | F | 215503 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P9] |
| 104365 | F | 215504 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P10] |
| 104367 | F | 215506 | - | Moroccan | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P12] |
| 104368 | F | 215507 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P13] |
| 104369 | F | 215508 | - | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [V343F] | |
| 104370 | M | 215509 | - | Algerian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P14] |
| 104372 | M | 215511 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P16] |
| 104374 | F | 215513 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P18] |
| 104375 | M | 215514 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P19] |
| 104376 | M | 215515 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P20] |
| 104377 | M | 215516 | - | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P21] |
| 104385 | F | 215517 |
- | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:I.2(mother)] | |
| 104386 | M | 215518 |
- | Ivorian | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:37080116 [P19(II.1)] |
| 104438 | F | 215527 |
- | Middle Eastern | Recurrent bronchitis | Early-onset atopic inflammation | PMID:36884218 [Fam.A:II.1(P1)] |
| 104449 | M | 215529 |
1 | Middle Eastern | Recurrent upper respiratory tract infections | Early-onset atopic inflammation | PMID:36884218 [Fam.C:II.1(P4)] |
| 104481 | M | 215536 |
- | Caucasian | Recurrent viral upper respiratory tract infections | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.2(P14)] |
| 104540 | M | 215549 |
- | North African | Otitis media | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
| 104607 | M | 215556 |
- | Otitis media | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.A:II.3(P1)] | |
| 104671 | F | 215568 |
- | Lebanese | Otitis media | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
| 104790 | M | 215574 |
-,- | Recurrent upper respiratory tract infections,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
| 104838 | M | 215578 |
10,-,- | Caucasian | Recurrent respiratory infections,Recurrent upper respiratory tract infections,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56]; PMID:34111452 [F.II.1 (24)] |
| 104845 | F | 215579 |
- | European | Recurrent upper respiratory tract infections | 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)] |
| 104876 | F | 215579 |
-,- | European | Recurrent upper respiratory tract infections,Sinusitis | 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 infections,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)]; PMID:34111452 [G.III.1 (26)] |
| 104916 | M | 215613 |
- | Caucasian | Recurrent upper respiratory tract infections | 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)]; PMID:34111452 [G.III.2 (27)] |
| 104923 | M | 215620 |
- | Sinusitis | 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 infections | 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 upper 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 |
-,59 | Dutch | Recurrent upper respiratory tract infections,Sinusitis | 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 infections | 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 |
-,40 | Dutch | Recurrent upper respiratory tract infections,Sinusitis | 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)] |
| 104962 | F | 215622 |
- | Dutch | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.3(III.3)]; PMID:26279205 [Fam.NL1:III.4(25)]; PMID:29403474 [Fam.NL1 (5):III.4(25)]; PMID:11583829 [Fam.1:III.3(III:3)]; PMID:16639407 [Fam.1:III.4(25)]; PMID:150198 [Fam.AA:III.4(030)] |
| 104970 | M | 215622 |
- | Dutch | Recurrent upper respiratory tract infections | 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 infections,Sinusitis | 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 infections | 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 |
-,1 | Dutch | Otitis media,Recurrent upper respiratory tract infections | 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 infections,Sinusitis | 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 upper 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)] |
| 105013 | M | 215623 |
36 | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:29803798 [Patient(II.2)] | |
| 105019 | M | 215624 |
- | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [P1(III.4)] |
| 105023 | M | 215624 |
- | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.2(P2)] |
| 105028 | F | 215627 | 18 | French | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10] |
| 105034 | F | 215628 |
- | Finnish | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
| 105043 | F | 215630 |
- | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [BBB.II.1 (131)]; PMID:34111452 [CH.II.1 (131)] |
| 105045 | M | 215631 |
-,- | Caucasian | Recurrent upper respiratory tract infections,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10]; PMID:29729943 [CCC.II.1 (132)]; PMID:34111452 [CI.II.1 (132)] |
| 105050 | F | 215633 | - | Recurrent upper respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Patient 2]; PMID:31857100 [P2] | |
| 105057 | F | 215635 |
- | German | Sinusitis | NFKB1 insufficiency | PMID:32278790 [S.I.1]; PMID:29403474 [Patient 1 (8)]; PMID:27365489 [Fam.1:II.1(Pat.1)]; PMID:150198 [Fam.AE:II.1(121)] |
| 105066 | F | 215624 |
- | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.6(P3)] |
| 105069 | M | 215624 |
- | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:IV.1(P5)] |
| 105075 | M | 215636 | - | Spanish | Recurrent upper respiratory tract infections | Combined immunodeficiency 36 | PMID:35464398 [P5(II.1)] |
| 105088 | M | 215638 |
- | Japanese | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26644313 [Fam.P:II.3(case)]; PMID:30250467 [M.II.3]; PMID:29729943 [M.II.3 (37)]; PMID:27418640 [P21(16)]; PMID:34111452 [M.II.3 (37)]; PMID:35087518 [11.1] |
| 105093 | F | 215639 |
- | Israeli | Recurrent upper respiratory tract infections | 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 infections | 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 infections,Sinusitis | 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)] |
| 105110 | M | 215644 | -,- | North American | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] |
| 105112 | F | 215646 | -,- | North American | Otitis media,Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147]; PMID:39672378 [F459fs] |
| 105129 | M | 215647 |
-,- | North American | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:27379089 [P1(c1)]; 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 |
-,- | North American | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:27379089 [Fam.P1: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 | Recurrent upper respiratory tract infections,Sinusitis | 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 infections,Sinusitis | 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 infections,Sinusitis | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
| 105152 | F | 215655 |
- | Spanish | Recurrent upper respiratory tract infections | 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] |
| 105176 | F | 215661 |
- | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(P3)]; PMID:34111452 [L.II.1 (35)]; PMID:39218359 [3] |
| 105185 | M | 215663 |
7 | Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.E:III.1(P6)]; PMID:30940614 [P7] | |
| 105194 | M | 215665 |
2,- | Iranian | Otitis media,Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
| 105197 | M | 215666 |
- | Finnish | Recurrent upper respiratory tract infections | 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 infections | 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 infections | 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 |
29,29 | Finnish | Recurrent upper respiratory tract infections,Sinusitis | 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 |
25,24 | Finnish | Recurrent upper respiratory tract infections,Sinusitis | 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 infections | 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 |
1,- | Finnish | Recurrent upper respiratory tract infections,Sinusitis | 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 |
0,0 | Finnish | Otitis media,Recurrent upper respiratory tract infections | 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 infections,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
| 105231 | M | 215671 |
- | Finnish | Sinusitis | 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)] |
| 105241 | M | 215673 | - | Kuwaiti | Recurrent upper and lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:27760045 [P3(II.1)] |
| 105245 | M | 215674 |
- | Caucasian | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:29077208 [P2]; 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 | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:29077208 [P3]; 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)] |
| 105256 | F | 210008 |
- | German | Recurrent upper respiratory tract infections | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
| 105287 | F | 215640 |
-,49 | European | Recurrent upper respiratory tract infections,Sinusitis | 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 infections | 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 infections,Sinusitis | 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 infections | 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 infections | 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 infections,Sinusitis | 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 |
-,- | European | Recurrent upper respiratory tract infections,Sinusitis | 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)] |
| 105316 | U | 215691 | -,- | European | Recurrent upper respiratory tract infections,Sinusitis | 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 infections,Sinusitis | 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 | Recurrent upper respiratory tract infections | 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)] |
| 105332 | U | 215694 | -,- | European | Recurrent upper respiratory tract infections,Sinusitis | 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 infections | NFKB1 insufficiency | PMID:32278790 [O.II.1]; PMID:29477724 [Fam.O:II.1(II:1)]; PMID:150198 [Fam.BI:287] |
| 105335 | U | 215697 | -,- | European | Recurrent upper respiratory tract infections,Sinusitis | 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 infections,Sinusitis | 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 infections,Sinusitis | 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 infections | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P1(II.-)] | |
| 105349 | F | 215711 | - | Recurrent upper respiratory tract infections | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P2] | |
| 105350 | M | 215712 | 4 | Omani | Otitis media | Immunodeficiency, common variable, 8 | PMID:28690850 [P1] |
| 105357 | M | 215719 | - | Sinusitis | Immunodeficiency, common variable, 8 | PMID:29804237 [P1] | |
| 105359 | F | 210314 |
- | German | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [Fam.BF:III.2(III.2)]; PMID:150198 [Fam.AO:III.1(166)]; GRID:001142 [Fam.#:III.1(FR113)] |
| 105363 | F | 215722 |
- | Afro-American | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)]; PMID:34111452 [X.II.1 (59)] |
| 105370 | F | 215725 |
- | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [15.1]; PMID:34111452 [Z.III.1 (67)] |
| 105398 | F | 215749 | 4 | Otitis media | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
| 105405 | M | 215756 | - | Druze | Sinusitis | Immunodeficiency, common variable, 8 | PMID:33013830 [Patient(II.2)] |
| 105412 | F | 215762 |
- | Caucasian | Recurrent upper respiratory tract infections | 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)] |
| 105432 | M | 215767 |
- | Caucasian | Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200] |
| 105433 | F | 215768 |
-,- | Danish | Recurrent upper respiratory tract infections,Sinusitis | 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 infections,Sinusitis | 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 infections,Sinusitis | 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 infections,Sinusitis | NFKB1 insufficiency | PMID:32278790 [BI.I.1]; PMID:150198 [Fam.BU:II.1(337)]; PMID:31803180 [Fam.D:II.1(S7)]; PMID:34619682 [P.150] |
| 105453 | M | 215771 |
41 | Caucasian | Otitis media | NFKB1 insufficiency | PMID:32278790 [BO.I.2]; PMID:150198 [Fam.BV:II.3(342)]; PMID:31803180 [Fam.E:II.3(S8)]; PMID:36105815 [Fam.R157P:II.3(S8)] |
| 105458 | M | 215771 |
-,- | Caucasian | Recurrent upper respiratory tract infections,Sinusitis | 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 infections,Sinusitis | 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 upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.BP:309]; PMID:31117086 [P35] |
| 105533 | M | 215791 |
9 | Portuguese | Otitis media | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient] |
| 105562 | M | 215805 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
| 105563 | F | 215806 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31026575 [P2]; PMID:31432443 [P6(II.1)] |
| 105567 | M | 215808 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31026575 [P3]; PMID:31432443 [P12] |
| 105626 | M | 215822 | 1 | Caucasian | Otitis media | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.1(P3)] |
| 105627 | F | 215822 | - | Caucasian | Sinusitis | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.2(P4)] |
| 105628 | F | 215822 | - | Caucasian | Sinusitis | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.3(P5)] |
| 105629 | M | 215823 | - | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:34368306 [Patient 1] | |
| 105641 | F | 215831 |
- | Chinese (China) | Sinusitis | Immunodeficiency, common variable, 8 | PMID:30363934 [case 1(I.2)] |
| 105649 | F | 215834 |
- | Spanish | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:29867916 [N234]; PMID:32278790 [Fam.AV:II.1(II.1)]; PMID:150198 [Fam.BL:II.1(294)] |
| 105657 | F | 215835 | - | North American | Sinusitis | Activated p110-delta syndrome 1 | PMID:27379089 [P11] |
| 105666 | M | 215672 |
- | Finnish | Otitis media | NFKB1 insufficiency | PMID:32278790 [Fam.F3:III.2(III.2)]; PMID:150198 [Fam.AS:III.8(217)]; PMID:36356849 [Fam.3:III.8(F3:III:8)]; PMID:36892687 [III:2(III.2)]; PMID:38593810 [Fam.1:III.8(F1.III-8)] |
| 105671 | M | 215837 |
- | Spanish | Recurrent upper respiratory tract infections | 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 infections | NFKB1 insufficiency | PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)] |
| 105679 | M | 215839 |
-,10 | Caucasian | Otitis media,Recurrent upper respiratory tract infections | 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 infections,Sinusitis | 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 infections | 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 infections | 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 infections | 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 infections | 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 infections | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
| 105740 | U | 215845 | - | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
| 105742 | F | 215847 | - | Brasilian | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428] |
| 105745 | M | 215850 | - | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
| 105747 | F | 215852 |
- | Dutch | Recurrent upper respiratory tract infections | 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 infections | 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 infections | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
| 105751 | M | 215854 | 20,- | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
| 105752 | M | 215855 | - | Russian | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438] |
| 105753 | F | 215856 | - | German | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [AY.I.1]; PMID:150198 [Fam.CT:439] |
| 105754 | F | 215857 | - | Asian | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [AZ.I.1]; PMID:150198 [Fam.CU:440] |
| 105755 | F | 215858 | - | Russian | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441] |
| 105756 | F | 215859 | - | Portuguese | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
| 105758 | M | 215861 | - | Iranian | Recurrent upper respiratory tract infections | 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 infections | NFKB1 insufficiency | PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446] |
| 105763 | F | 215864 |
- | Recurrent upper respiratory tract infections | 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 infections | 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 | -,- | German | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
| 105776 | M | 215869 | - | Iranian | Recurrent upper respiratory tract infections | 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 infections | NFKB1 insufficiency | PMID:32278790 [CA.I.1]; PMID:150198 [Fam.DL:469]; PMID:36105815 [Fam.K326N/CA:K326N/2] |
| 105780 | F | 215873 | - | German | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
| 105783 | F | 215876 |
- | Caucasian | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
| 105799 | M | 215881 |
0 | Pakistani | Otitis media | ?Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
| 105824 | M | 215834 |
- | Spanish | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [Fam.AV:I.2(I.2)]; PMID:150198 [Fam.BL:I.1(292)] |
| 105839 | M | 215888 |
14 | Romani | Otitis media | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.3:II.1(3.1)] |
| 105859 | F | 215894 |
- | British | Sinusitis | 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 |
- | British | Otitis media | 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 | Otitis media | NFKB1 insufficiency | PMID:150198 [Fam.EA:II.4(555)]; PMID:34922003 [Fam.A:II.4(A3)] |
| 105903 | F | 215903 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.2(young-sister)] |
| 105911 | F | 215906 |
- | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:III.1(P2)] |
| 105915 | M | 215906 |
- | French | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:II.2(P1)] |
| 105918 | F | 215908 |
- | Moroccan | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:I.1(P3)] |
| 105921 | F | 215908 |
- | Moroccan | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.2(P5)] |
| 105924 | F | 215908 |
- | Moroccan | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.5(P6)] |
| 105926 | M | 215909 |
- | Japanese | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:34111452 [N.III.2 (41)]; PMID:35087518 [Fam.12:III.2(12.4)] |
| 105935 | F | 215911 |
- | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.EB:II.1(559)]; PMID:34922003 [Fam.D:II.1(D1)] | |
| 105943 | M | 215912 |
- | Colombian/Swiss | Recurrent upper respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.C:II.1(P8)] |
| 105957 | M | 215914 | - | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P.II.2 (43)]; PMID:34111452 [P.II.2 (43)]; PMID:39218359 [12] |
| 105977 | F | 215918 |
- | Japanese | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:34111452 [W.II.2 (56)]; PMID:35087518 [Fam.15:II.2(15.3)] |
| 105986 | F | 215921 |
- | Recurrent upper 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 infections | NFKB1 insufficiency | PMID:150198 [Fam.FG:III.1(631)]; PMID:36203612 [Fam.1:III.1(1.III.1)] | |
| 105999 | F | 215922 |
- | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)] | |
| 106036 | F | 215924 | - | Japanese | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [CC.II.1 (73)]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:34111452 [AC.II.1 (73)]; PMID:35087518 [18.1] |
| 106041 | M | 215926 | - | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [EE.II.1 (76)]; PMID:34111452 [AE.II.1 (76)] |
| 106043 | F | 215928 | - | Afro-American | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [HH.II.1 (82)]; PMID:34111452 [AH.II.1 (82)] |
| 106044 | F | 215929 |
- | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))]; PMID:34111452 [AK.II.1 (85)]; PMID:37740092 [P14] |
| 106047 | F | 215930 | - | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [LL.II.1 (86)]; PMID:34111452 [AL.II.1 (86)]; PMID:39218359 [13] |
| 106048 | M | 210991 |
- | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:I.1(NN.I.1 (88))]; PMID:34111452 [AN.I.1 (88)] |
| 106057 | F | 210991 |
- | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))]; PMID:34111452 [AN.II.6 (90)] |
| 106060 | F | 210991 |
- | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))]; PMID:34111452 [AN.II.8 (91)] |
| 106062 | M | 210991 |
- | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.13(NN.II.11 (94))]; PMID:34111452 [AN.II.11 (94)] |
| 106068 | M | 215931 | - | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [PP.II.1 (96)]; PMID:34111452 [AP.II.1 (96)] |
| 106070 | F | 215933 | - | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [SS.II.1 (99)]; PMID:34111452 [AS.II.1 (99)]; PMID:30087679 [S6] |
| 106094 | M | 215947 |
- | Saudi | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))]; PMID:34111452 [AV.II.1 (124)] |
| 106100 | F | 215949 | - | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [DDD.II.1 (133)]; PMID:34111452 [CJ.II.1 (133)] |
| 106155 | M | 215035 |
- | Caucasian | Sinusitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:II.2(P16)]; PMID:37419334 [P16(27)] |
| 106157 | M | 215956 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31432443 [P1] |
| 106158 | M | 215957 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:28956255 [P5(II.2)]; PMID:31432443 [P2(II.2)] |
| 106161 | M | 215960 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31432443 [P5] |
| 106163 | M | 215806 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31432443 [Fam.P6:II.2(P7)] |
| 106164 | M | 215963 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31432443 [P8] |
| 106165 | M | 215964 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31432443 [P9] |
| 106166 | M | 215965 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31432443 [P10] |
| 106167 | F | 215966 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31432443 [P11] |
| 106169 | F | 215968 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31432443 [P13] |
| 106170 | F | 215969 | - | Turkish | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:31432443 [P14] |
| 106172 | F | 215971 | - | German | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.FI:660]; GRID:001142 [FR302] |
| 106216 | F | 215975 |
-,18 | Finnish | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.2(701)]; PMID:36356849 [Fam.2:IV.2(F2:IV:2)] |
| 106217 | M | 215975 |
-,30 | Finnish | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.3(702)]; PMID:36356849 [Fam.2:IV.3(F2:IV:3)] |
| 106246 | F | 215977 |
- | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.1:III.2(III.2)]; PMID:34111452 [AU.III.7 (111)] |
| 106259 | F | 215977 |
- | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.1:III.12(III.4)]; PMID:34111452 [AU.III.2 (107)] |
| 106279 | M | 215977 |
- | Caucasian | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.1:V.1(V.1)]; PMID:34111452 [AU.V.2 (122)] |
| 106313 | F | 215982 | - | Caucasian | Recurrent upper respiratory tract infections | 2q33.1-33.3 deletion syndrome | PMID:29729943 [Chr2_1P1]; PMID:30326257 [previous1] |
| 106314 | M | 215983 | - | Caucasian | Recurrent upper respiratory tract infections | 2q33.1-33.3 deletion syndrome | PMID:29729943 [Chr2_2P2]; PMID:30326257 [previous2] |
| 106315 | F | 215771 |
- | Caucasian | Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.BV:III.1(346)]; PMID:36105815 [Fam.R157P:III.1(S8's daugther)] |
| 106320 | M | 215984 | - | Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.EX:608]; PMID:36105815 [L196V] | |
| 106323 | M | 215985 |
0 | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.EZ:II.1(612)]; PMID:36105815 [Fam.R284P:II.1(R284P/1)] | |
| 106327 | M | 215987 |
- | Italian | Otitis media | NFKB1 insufficiency | PMID:150198 [Fam.FR:III.1(734)]; PMID:37600787 [Fam.1:III.1(index)] |
| 106346 | F | 215993 |
14 | Recurrent upper 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 infections | NFKB1 insufficiency | PMID:150198 [Fam.EY:609]; PMID:36105815 [R198C] | |
| 106352 | M | 215998 |
- | Otitis media | Activated p110-d syndrome 2 | PMID:34922003 [Fam.B:II.1(B1)] | |
| 106363 | F | 216001 |
6 | Argentinian | Sinusitis | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
| 106371 | M | 216004 |
19,19 | Recurrent upper respiratory tract infections,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)] | |
| 106390 | M | 216005 |
- | Iranian | Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:32996901 [Patient(II.1)] |
| 106403 | M | 210197 |
- | Italian | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.DZ:I.1(545)] |
| 106405 | F | 210197 |
- | Italian | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.DZ:II.3(549)] |
| 106409 | M | 216010 |
27 | Chinese (China) | Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
| 106419 | F | 216013 |
0 | Otitis media | T-negative/B-positive SCID type 1 | PMID:7481768 [AP(II.1)] | |
| 106455 | M | 216019 | - | Egyptian | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:32506362 [P4] |
| 106459 | M | 216021 |
- | Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband] | |
| 106491 | F | 216044 |
- | Recurrent upper respiratory tract infections | Immunodeficiency 22 | PMID:22985903 [Fam.1:II.1(patient)] | |
| 106535 | F | 216067 | - | Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [CB.II.1 (162)] | |
| 106536 | F | 216068 |
- | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [CE.II.1 (164)]; PMID:37595759 [Fam.F2:II.1(CM3)]; PMID:35491430 [Fam.F2:II.1(CM3)]; PMID:28601686 [P7(II.1)] |
| 106537 | F | 216068 |
-,- | Turkish | Recurrent upper respiratory tract infections,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [CE.I.1 (163)]; PMID:37595759 [Fam.F2:I.1(CM4)]; PMID:35491430 [Fam.F2:I.1(CM4)]; PMID:28601686 [Fam.P7:I.2(P8)] |
| 106592 | M | 216085 |
14 | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
| 106610 | F | 216089 |
- | Australian | Sinusitis | 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)] |
| 106616 | M | 216089 |
- | Australian | Sinusitis | Agammaglobulinemia 8A | PMID:30323807 [Fam.1:III.1(III.1)]; PMID:29114388 [Fam.A:III.1(III.1)] |
| 106636 | F | 216095 | -,- | Iranian | Recurrent upper respiratory tract infections,Sinusitis | Activated p110-d syndrome 2 | PMID:31117086 [P34] |
| 106679 | F | 216106 |
- | Dutch | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.ET:II.2(600)]; PMID:36105815 [Fam.G64V:II.2(G64V/2)] |
| 106684 | F | 216108 | 61 | Asian | Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.GF:801]; PMID:36105815 [G136S] |
| 106767 | M | 216125 | - | Recurrent upper respiratory tract infections | Combined immunodeficiency 14B | PMID:31449058 [P1(II.1)] | |
| 106791 | M | 216142 |
1 | Italian | Otitis media | T-negative/B-positive SCID type 1 | PMID:30032486 [Fam.Fam1:II.1(Pt1)] |
| 106792 | F | 216141 |
- | Sinusitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.227] | |
| 106794 | F | 216145 |
- | German | Sinusitis | Immunodeficiency, common variable, 14 | PMID:34619682 [P.263]; PMID:39059757 [Fam.1:II.2(P2)] |
| 106797 | F | 216148 | 52 | German | Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37740092 [P06] |
| 106811 | M | 216157 | - | German | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 14 | PMID:39059757 [P3] |
| 106812 | F | 216158 | - | Recurrent upper respiratory tract infections | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
| 106816 | F | 216162 | - | Otitis media | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
| 106912 | F | 216186 | 44 | Sinusitis | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
| 106939 | M | 216189 |
- | Caucasian | Recurrent pharyngitis | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
| 107097 | F | 216333 |
- | Japanese | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.4:P4.1] |
| 107138 | M | 216357 | 2 | Sinusitis | Activated p110-delta syndrome 1 | PMID:28469999 [Patient(II.1)] | |
| 107146 | M | 216362 |
5 | Caucasian | Recurrent pharyngitis | Adenosine deaminase 2 deficiency | PMID:26131734 [Fam.P1:II.2(P2)] |
| 107149 | M | 216363 |
- | Iranian | Otitis media | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:II.3(Patient 1)] |
| 107150 | F | 216363 |
-,2 | Iranian | Otitis media,Recurrent upper respiratory tract infections | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:II.4(Patient 2)] |
| 107151 | M | 216364 |
4 | Turkish | Recurrent upper and lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.A:II.1(Patient 1)] |
| 107156 | F | 216365 |
2 | Turkish | Otitis media | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.B:II.2(Patient 2)] |
| 107245 | M | 216394 |
2 | Caucasian | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Fam.2:II.1(Pt#2)] |
| 107246 | M | 216395 | 2 | Caucasian | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Pt#1] |
| 107247 | F | 216396 | - | Otitis media | Hyper-IgE recurrent infection syndrome 1 | GRID:001501 [case] | |
| 107248 | F | 216397 | - | Kuwaiti | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | GRID:001502 [Patient] |
| 107259 | M | 216403 | - | North American | Sinusitis | Hemophagocytic lymphohistiocytosis, familial 5 | PMID:27379089 [P15] |
| 107317 | F | 216437 |
- | Turkish | Recurrent upper respiratory tract infections | Severe congenital neutropenia 6 | PMID:37120535 [2]; PMID:37528877 [10]; PMID:25129144 [Fam.C:II.2(P8)]; PMID:32419428 [Patient 8] |
| 107376 | F | 216457 | 1 | European | Recurrent upper respiratory tract infections | Leukocyte adhesion deficiency, type I | PMID:37601427 [Patient(I.2)] |
| 107381 | M | 216458 | - | Chinese (China) | Recurrent upper respiratory tract infections | Leukocyte adhesion deficiency, type I | PMID:31374327 [Patient(I.2)] |
| 107394 | M | 216465 |
- | German | Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.GU:II.1(821)] |
| 107395 | M | 216466 |
-,12 | German | Recurrent upper respiratory tract infections,Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.GV:II.2(829)] |
| 107396 | M | 216467 |
- | German | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.GW:II.2(834)] |
| 107397 | M | 216468 |
- | Italian | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.GX:I.1(835)] |
| 107405 | F | 216476 | - | Turkish | Recurrent upper respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.GY:839] |
| 107477 | F | 216509 | - | Sinusitis | 2q33.1-33.3 deletion syndrome | PMID:33864888 [S018] | |
| 107487 | M | 216512 |
-,- | Turkish | Recurrent upper respiratory tract infections,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F1:I.1(CM1)]; PMID:35491430 [Fam.F1:I.1(CM1)] |
| 107488 | M | 216512 |
-,- | Turkish | Otitis media,Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F1:II.1(CM2)]; PMID:35491430 [Fam.F1:II.1(CM2)] |
| 107490 | M | 216514 | 8 | Recurrent upper respiratory tract infections | 2q33.1-33.3 deletion syndrome | PMID:37595759 [Fam.F4:CM6]; PMID:35491430 [Fam.F4:CM6] | |
| 107491 | F | 216515 |
13 | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F5:II.1(CM7)]; PMID:35491430 [Fam.F5:II.1(CM7)] |
| 107492 | F | 216515 |
- | Turkish | Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F5:I.1(CM8)]; PMID:35491430 [Fam.F5:I.1(CM8)] |
| 107494 | M | 216517 |
15 | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F7:II.2(CM10)]; PMID:35491430 [Fam.F7:II.2(CM10)] |
| 107497 | U | 216518 | - | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F8:CM13] | |
| 107500 | U | 216521 | - | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F11:I.1(CM16)] |
| 107507 | U | 216526 | - | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F13:CM20] |
| 107508 | U | 216527 | - | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F14:CM21] |
| 107512 | U | 216529 | - | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F16:I.1(CM25)] |
| 107514 | U | 216530 | - | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F17:CM27] |
| 107515 | U | 216531 |
- | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F18:II.1(CM28)] |
| 107516 | U | 216531 |
- | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F18:II.2(CM29)] |
| 107517 | U | 216532 | - | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F19:CM30] |
| 107521 | U | 216534 | - | Turkish | Recurrent upper respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F21:I.1(CM34)] |
| 107523 | M | 216535 |
-,- | Romanian | Otitis media,Recurrent upper respiratory tract infections | Severe congenital neutropenia 6 | PMID:37120535 [3]; PMID:37528877 [19]; PMID:30044346 [Patient(II.1)] |
| 107526 | M | 216536 | 2 | Sinusitis | Severe congenital neutropenia 6 | PMID:37120535 [1]; PMID:37528877 [1]; PMID:32419428 [Patient(IV.1)] | |
| 107553 | M | 216563 |
1 | Turkish | Otitis media | Severe congenital neutropenia 6 | PMID:37120535 [4]; PMID:37528877 [17]; PMID:25851723 [Fam.1:III.4(Patient-I)]; PMID:32419428 [Patient 15] |
| 107557 | M | 216565 |
- | German | Sinusitis | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:40274249 [S2(II.1)] |
| 107595 | F | 216587 | - | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:31857100 [P3] | |
| 107629 | M | 216591 | - | Sinusitis | Immunodeficiency, common variable, 8 | PMID:35490276 [Patient(II.3)] | |
| 107637 | F | 216563 |
0 | Turkish | Otitis media | Severe congenital neutropenia 6 | PMID:37120535 [5]; PMID:37528877 [18]; PMID:25851723 [Fam.1:III.6(Patient-II)]; PMID:32419428 [Patient 16] |
| 107640 | F | 216593 |
- | Algerian | Recurrent upper respiratory tract infections | Severe congenital neutropenia 6 | PMID:37120535 [7]; PMID:37528877 [2]; PMID:25129144 [Fam.A:II.2(P1)]; PMID:32419428 [Patient 1] |
| 107641 | F | 216593 |
-,- | Algerian | Otitis media,Recurrent upper respiratory tract infections | Severe congenital neutropenia 6 | PMID:37120535 [8]; PMID:25129144 [Fam.A:II.3(P2)]; PMID:32419428 [Patient 2] |
| 107645 | F | 216593 |
- | Algerian | Otitis media | Severe congenital neutropenia 6 | PMID:37120535 [10]; PMID:25129144 [Fam.A:II.6(P4)]; PMID:32419428 [Patient 4] |
| 107646 | M | 216593 |
-,- | Algerian | Otitis media,Recurrent upper respiratory tract infections | Severe congenital neutropenia 6 | PMID:37120535 [11]; PMID:25129144 [Fam.A:II.7(P5)]; PMID:32419428 [Patient 5] |
| 107647 | F | 216594 |
- | Iranian | Recurrent upper respiratory tract infections | Severe congenital neutropenia 6 | PMID:37120535 [12]; PMID:37528877 [8]; PMID:25129144 [Fam.B:II.1(P6)]; PMID:32419428 [Patient 6] |
| 107649 | M | 216437 |
- | Turkish | Recurrent upper respiratory tract infections | Severe congenital neutropenia 6 | PMID:37528877 [9]; PMID:25129144 [Fam.C:II.1(P7)]; PMID:32419428 [Patient 7] |
| 107654 | F | 216598 |
- | Albanian | Recurrent upper respiratory tract infections | Severe congenital neutropenia 6 | PMID:37120535 [16]; PMID:37528877 [14]; PMID:25129144 [Fam.G:II.1(P12)]; PMID:32419428 [Patient 12] |
| 107655 | F | 216599 |
-,- | Pakistani | Otitis media,Recurrent upper respiratory tract infections | Severe congenital neutropenia 6 | PMID:37120535 [17]; PMID:37528877 [15]; PMID:25129144 [Fam.H:II.3(P13)]; PMID:32419428 [Patient 13] |
| 107723 | M | 216619 | 4 | Sinusitis | Severe congenital neutropenia 6 | PMID:37528877 [Patient] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).