Recurrent sinusitis
Basic details
Preferred term: Recurrent sinusitis
Alt. terms: Recurrent sinus disease | Sinusitis, recurrent
HPO term: Recurrent sinusitis
HPO code: HP:0011108
GenIA ID: 8058
Last updated on: 2023-04-27 08:33:58
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
A recurrent form of sinusitis. Note: Recurring inflammation of the paranasal sinuses.
Hierarchical classification
PARENT terms
TERM
Recurrent sinusitis
CHILD terms
Reported patients added to GenIA DB
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101015 | M | 210203 | - | German | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3] |
| 101017 | F | 210232 | 2 | German | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F003:P003] | |
| 101019 | F | 210316 | 6 | German | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F004:P004] | |
| 101020 | F | 210008 |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F005:P005]; PMID:32278790 [Fam.AU:II.3(II.3)]; PMID:29403474 [Patient 28 (11)]; PMID:150198 [Fam.AM:II.4(157)]; PMID:27461466 [Fam.199_01:28] |
| 101021 | M | 210359 | 24 | German | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F006:P006] | |
| 101022 | M | 210482 | 16 | German | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F007:P007] | |
| 101024 | F | 210927 | 33 | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F009:P009] | ||
| 101025 | M | 210937 | 43 | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F010:P010] | ||
| 101026 | M | 210215 | 20 | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F011:P011] | ||
| 101027 | M | 211035 | 28 | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F012:P012] | ||
| 101028 | F | 210750 | - | German | Sinusitis | PMID:34975878 [Fam.F013:P013] | |
| 101038 | F | 210182 |
- | Caucasian | Recurrent upper respiratory tract infection | 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)] |
| 101047 | F | 210205 |
- | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.5(A.II.3)]; PMID:29729943 [Fam.A:II.5(A.II.3 (3))] |
| 101053 | F | 211287 | - | Sinusitis | PMID:34975878 [Fam.F022:P022] | ||
| 101065 | F | 211364 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F033:P033] | |
| 101076 | F | 210226 | 19 | German | Sinusitis | PMID:34975878 [Fam.F041:P041] | |
| 101080 | F | 211150 | 61 | Sinusitis | PMID:34975878 [Fam.F046:P046] | ||
| 101082 | F | 211226 | - | Recurrent upper respiratory tract infection | 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 infection | 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 infection | PMID:34975878 [Fam.F055:P055] | ||
| 101092 | M | 210772 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F058:P058] | ||
| 101093 | M | 211289 | - | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
| 101101 | M | 211414 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.G:II.1] | |
| 101102 | M | 211415 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F064:P064] | |
| 101115 | F | 210778 | - | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
| 101118 | F | 210735 | 20 | Sinusitis | Thrombophilia due to Factor V Leiden | PMID:31057532 [Fam.C:II.1] | |
| 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 infection | 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 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO: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 infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F398:P398] | |
| 101145 | M | 211221 |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.5(Pat4)]; PMID:150198 [Fam.DV:III.5(531)]; PMID:36105815 [Fam.Y350C:III.5(Y350C/4)] |
| 101153 | M | 210757 | 11 | German | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES55] |
| 101155 | M | 210235 | - | German | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098] |
| 101162 | F | 211457 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F103:P103] | |
| 101178 | M | 210542 | 17 | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F114:P114] | ||
| 101186 | F | 211471 | - | Sinusitis | PMID:34975878 [Fam.F118:P118] | ||
| 101197 | F | 214344 | - | Egyptian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES18] |
| 101199 | F | 211483 | - | German | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
| 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 infection | PMID:34975878 [Fam.F129:P129] | ||
| 101213 | M | 210014 |
28 | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.B:II.1(P3)]; PMID:16384931 [Fam.B:II.2(P3)]; PMID:19426217 [Fam.B:II.2(P3)]; PMID:28861081 [Fam.2:II.1(P3)] |
| 101260 | M | 212144 | 2 | Iranian | Recurrent upper respiratory tract infection | 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 infection | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16] |
| 101312 | M | 212149 | 7 | Lebanese | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.1(P2)]; PMID:26707784 [P16] |
| 101313 | F | 212149 | 10 | Lebanese | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17] |
| 101370 | F | 210424 | - | German | Sinusitis | PMID:34975878 [Fam.F133:P133] | |
| 101375 | F | 212162 | 3 | Iranian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8] |
| 101376 | F | 212162 | 6 | Iranian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.2(P2)]; PMID:29528757 [Case 4]; PMID:26707784 [Fam.F:IV.2(P31)]; PMID:26993986 [Fam.F7:II.2(2)]; PMID:28512785 [P9] |
| 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 infection | 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 infection | 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 infection | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
| 101401 | F | 210205 |
- | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.17(A.II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)] |
| 101402 | M | 210690 | - | German | Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F138:P138] |
| 101403 | M | 210189 |
- | German | Recurrent upper respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
| 101421 | F | 212170 | 3 | Iranian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
| 101424 | M | 212172 | 2 | Iranian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 6]; PMID:26707784 [Fam.D:IV.1(P27)]; PMID:26993986 [F8]; PMID:28512785 [P13] |
| 101425 | M | 210205 |
- | Caucasian | Recurrent upper respiratory tract infection | 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)] |
| 101458 | F | 210656 |
- | Georgian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [Fam.E:II.3(E.II.3 (23))]; PMID:27418640 [P19(5)] |
| 101461 | M | 210929 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27] |
| 101469 | F | 210220 |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)] |
| 101479 | F | 210314 |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)] |
| 101488 | M | 210401 |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
| 101490 | M | 211009 | - | Sinusitis | PMID:34975878 [Fam.F164:P164] | ||
| 101495 | M | 212458 | - | Taiwanese | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
| 101501 | F | 212459 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:II.2(P4)] |
| 101509 | F | 212459 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.2(P1)] |
| 101511 | M | 212459 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.3(P2)] |
| 101512 | M | 212459 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.4(P3)] |
| 101514 | M | 210220 |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.089:I.1(I.1)]; PMID:26279205 [Fam.089:I.1(I1)]; PMID:29403474 [Fam.089 (5):I.1(I1)]; PMID:150198 [Fam.AB:III.3(093)]; PMID:27461466 [Fam.089:I.1(24)] |
| 101525 | F | 211543 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F174:P174] | ||
| 101530 | M | 212460 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.3(P5)] |
| 101532 | F | 212460 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.5(P6)] |
| 101534 | M | 212460 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.1(P11)] |
| 101538 | F | 212460 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.3(P7)] |
| 101541 | M | 212461 | - | Slovenian | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.C:II.1(P8)] |
| 101543 | F | 210011 | 23 | Sinusitis | PMID:34975878 [Fam.F179:P179] | ||
| 101546 | F | 212462 | - | Irish | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:II.1(P10)] |
| 101548 | M | 212462 | - | Irish | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:III.1(P9)] |
| 101549 | F | 212463 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:I.1(P13)] |
| 101551 | M | 212463 | - | British | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:II.1(P12)] |
| 101552 | M | 212464 | - | French | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.F:II.1(P14)] |
| 101553 | M | 210256 | - | German | Recurrent upper respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
| 101560 | M | 212465 | - | French | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.2(P15)] |
| 101561 | F | 212465 | - | French | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.3(P16)] |
| 101563 | M | 212465 | - | French | Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.4(P17)] |
| 101565 | M | 211008 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F188:P188]; PMID:32278790 [Fam.BS:II.1(II.1)]; PMID:150198 [Fam.DD:II.1(457)]; PMID:36105815 [Fam.M216V:II.1(M216V/1)] |
| 101566 | F | 210575 |
- | German | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN94]; PMID:18835223 [UPN94]; GRID:000796 [UPN94(II.1)] |
| 101569 | F | 210220 |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F192:P192]; PMID:32278790 [AH.I.1]; PMID:150198 [Fam.AB:IV.3(097)]; PMID:31857261 [Patient 5]; GRID:001142 [FR023] |
| 101578 | M | 210205 |
- | German | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)] |
| 101579 | F | 210773 | - | Turkish | Recurrent upper respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:28493328 [P1]; PMID:31857261 [Patient 13] |
| 101588 | M | 210935 | 42 | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F206:P206] | |
| 101616 | F | 211098 | - | Sinusitis | PMID:34975878 [Fam.F211:P211] | ||
| 101630 | M | 211089 |
- | German | Recurrent upper respiratory tract infection | 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 infection | 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 infection | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
| 101651 | M | 210939 | 21 | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F226:P226] | ||
| 101664 | M | 211085 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F232:P232] | ||
| 101673 | M | 211156 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
| 101693 | M | 212637 |
- | Nepalese | Recurrent upper respiratory tract infection | ARPC1B deficiency | PMID:30771411 [P14(II.1)] |
| 101706 | F | 211545 | - | Sinusitis | PMID:34975878 [Fam.F245:P245] | ||
| 101711 | M | 210925 |
- | Turkish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F412:P412]; PMID:32278790 [Fam.BT:II.1(II.1)]; PMID:150198 [Fam.DE:II.1(460)]; PMID:36105815 [Fam.R230K:II.1(R230K/2)] |
| 101717 | F | 210260 |
- | Caucasian | Recurrent upper respiratory tract infection | 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)] |
| 101735 | F | 210300 |
- | North American | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.8(P5)] |
| 101736 | M | 210300 |
- | North American | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.9(P6)] |
| 101741 | F | 210300 |
1 | North American | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.14(P10)] |
| 101744 | F | 210182 |
- | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.2(B.III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)] |
| 101753 | M | 210024 | - | Japanese | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
| 101754 | M | 210024 | - | Japanese | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.2(P11)] |
| 101764 | F | 210031 | - | Dutch | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
| 101768 | M | 210789 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
| 101773 | M | 210876 |
- | German | Recurrent upper respiratory tract infection | 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 |
8 | Argentinian | Sinusitis | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
| 101775 | M | 210908 |
- | Argentinian | Recurrent upper respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
| 101776 | M | 210912 | 15 | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F251:P251] | |
| 101778 | M | 210920 | - | Libyan | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26745254 [Fam.P1:II.3(P2)] |
| 101783 | F | 210923 |
- | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.II:I.2(P1)] |
| 101794 | F | 211030 | - | Italian | Recurrent upper respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
| 101797 | M | 211108 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
| 101799 | M | 211120 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)] |
| 101800 | M | 215769 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F259:P259]; PMID:32278790 [Fam.AT:III.2(III.2)]; PMID:150198 [Fam.BT:IV.1(319)]; PMID:31803180 [Fam.C:III.1(III.1)] |
| 101801 | M | 211151 | - | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
| 101802 | F | 211221 |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
| 101807 | F | 211431 | - | Recurrent upper respiratory tract infection | 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 infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F271:P271] | |
| 101814 | F | 211527 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F274:P274]; PMID:32278790 [AK.I.1]; PMID:150198 [Fam.CP:435] |
| 101826 | F | 211561 | 33 | German | Sinusitis | PMID:34975878 [Fam.F290:P290] | |
| 101833 | M | 210887 | - | Recurrent upper respiratory tract infection | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
| 101840 | F | 211591 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
| 101843 | M | 211371 | - | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F404:P404] |
| 101847 | T | 211632 | - | Sinusitis | PMID:34975878 [Fam.F308:P308] | ||
| 101883 | M | 211765 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F405:P405] | |
| 101884 | M | 212237 |
- | Sudanese | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
| 101893 | F | 211767 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F326:P326] | ||
| 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 infection | 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 infection | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.4(II.4)]; PMID:16384931 [Fam.C:II.4(P6)]; PMID:19426217 [Fam.C:II.4(P6)]; PMID:28861081 [Fam.3:II.4(P6)] |
| 101961 | M | 212237 |
- | Sudanese | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.1(A.II.1)] |
| 101962 | M | 212237 |
- | Sudanese | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.2(A.II.2)] |
| 101973 | F | 214053 |
- | Turkish | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.6(D.II.4)]; PMID:34390440 [HIES52] |
| 101974 | F | 214053 |
- | Turkish | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.3(D.II.2)] |
| 101975 | F | 214053 |
- | Turkish | Recurrent upper respiratory tract infection | 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] | |
| 102084 | M | 214303 | - | Egyptian | Sinusitis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES02] |
| 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 infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.5(B.II.4)] |
| 102129 | F | 214351 |
- | Sudanese | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.1(B.II.1)] |
| 102134 | M | 214352 |
- | Sudanese | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.6(C.II.6)] |
| 102138 | M | 214393 |
- | North American | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:II.2(F)]; PMID:37876937 [Fam.A:II.1(A.3)] |
| 102142 | M | 214393 |
- | North American | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:III.2(B)]; PMID:37876937 [Fam.A:III.2(A.2)] |
| 102157 | F | 214681 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
| 102168 | M | 214767 |
2 | Georgian | Recurrent upper respiratory tract infection | Agammaglobulinemia 14 | PMID:33571536 [P-FR1(II.3)] |
| 102182 | F | 214681 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:III.1(46)] |
| 102216 | F | 214916 |
- | Belgian | Sinusitis | Severe congenital neutropenia 11 | PMID:32325141 [Patient(II.1)] |
| 102222 | M | 214917 | - | German | Recurrent upper respiratory tract infection | 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 infection | DiGeorge syndrome | PMID:35486341 [P017] |
| 102427 | M | 214950 |
0 | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.B:II.3(P5)] |
| 102436 | F | 214956 |
- | Bulgarian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:III.1(P7)] |
| 102439 | M | 214956 |
- | Bulgarian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
| 102444 | M | 214957 |
- | Slovak | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
| 102449 | F | 214958 |
0 | Mexican/Salvadoran | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
| 102453 | F | 214959 |
1 | Turkish | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.F:II.2(P10)] |
| 102477 | M | 214964 |
- | Turkish | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4B | PMID:30309848 [Patient(III.5)] |
| 102530 | M | 214966 |
- | Japanese | Sinusitis | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
| 102648 | M | 214975 |
4 | Czech | Recurrent upper respiratory tract infection | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.1(Patient A)] |
| 102649 | M | 214975 |
- | Czech | Recurrent upper respiratory tract infection | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.2(Patient B)] |
| 102654 | F | 214978 |
1 | North American | Recurrent upper respiratory tract infection | Immunodeficiency 8 | PMID:19097825 [Patient(II.2)]; PMID:18836449 [Patient(II.2)] |
| 102815 | M | 214994 | - | Recurrent upper respiratory tract infection | Immunodeficiency 8 | PMID:34913575 [Patient] | |
| 102915 | F | 215016 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P4]; PMID:37419334 [P4(22)] | |
| 102916 | F | 215017 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P5]; PMID:37419334 [P5(22)] | |
| 102917 | M | 215018 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P6]; PMID:37419334 [P6(22)] | |
| 102920 | F | 215021 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P9]; PMID:37419334 [P9(22)] | |
| 102925 | M | 215026 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P14]; PMID:37419334 [P14(22)] | |
| 102927 | M | 215028 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P16]; PMID:37419334 [P16(22)] | |
| 102928 | M | 215029 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P17] | |
| 102930 | F | 215031 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P19]; PMID:37419334 [P19(22)] | |
| 102931 | F | 215032 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P20]; PMID:37419334 [P20(22)] | |
| 102932 | M | 215033 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P21]; PMID:37419334 [P21(22)] | |
| 102933 | M | 215034 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P22]; PMID:37419334 [P22(22)] | |
| 102936 | M | 215037 | - | Recurrent upper respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P25]; PMID:37419334 [P25(22)] | |
| 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 infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 2] |
| 103002 | F | 215080 |
- | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 5] | |
| 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 infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 6] | |
| 103012 | M | 215083 |
- | Turkish | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 7] |
| 103015 | M | 215084 |
- | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 8] | |
| 103018 | M | 215085 |
- | Japanese | Sinusitis | Immunodeficiency 35 | PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient] |
| 103027 | F | 215087 |
- | Hungarian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN133]; PMID:18706697 [Fam.2:I.2(N1)] |
| 103031 | M | 215088 | - | Hungarian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN134]; PMID:18706697 [Fam.3:K] |
| 103032 | M | 215089 |
- | Hungarian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.4:II.1(S1)] |
| 103062 | M | 215096 |
- | Finnish | Recurrent upper respiratory tract infection | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
| 103067 | F | 215097 |
- | Finnish | Recurrent upper respiratory tract infection | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F3:II.3(P4)] |
| 103482 | F | 215136 |
- | British | Recurrent upper respiratory tract infection | 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)] |
| 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 | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
| 103880 | F | 215269 |
- | Finnish | Recurrent upper respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
| 103914 | F | 215270 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K1:P1] |
| 103916 | M | 215271 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K2:P2] |
| 103917 | F | 215272 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:II.2(P4)] |
| 103918 | M | 215272 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:I.1(P3)] |
| 103921 | F | 215273 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K4:P5] |
| 103922 | F | 215274 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K5:P6] |
| 103923 | M | 215275 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:II.1(P8)] |
| 103925 | F | 215275 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:I.2(P7)] |
| 103926 | F | 215276 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K7:P9] |
| 103927 | F | 215277 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K8:P10] |
| 103928 | M | 215278 | - | Algerian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K9:P11] |
| 103929 | M | 215279 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K10:P12] |
| 103930 | F | 215280 | - | Moroccan | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K11:P13] |
| 103931 | M | 215281 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.2(P16)] |
| 103933 | F | 215281 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:I.2(P14)] |
| 103935 | F | 215282 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K13:P17] |
| 103936 | M | 215283 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K14:P18] |
| 103937 | F | 215284 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K15:P19] |
| 103939 | F | 215286 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K17:P21] |
| 103940 | F | 215287 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:P22] |
| 103944 | M | 215287 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:II.2(P23)] |
| 103946 | F | 215290 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K20:P25] |
| 103947 | F | 215291 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K21:P26] |
| 103948 | F | 215292 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K22:P27] |
| 103949 | M | 215293 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.2(P30)] |
| 103952 | M | 215293 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.1(P29)] |
| 103953 | F | 215294 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K24:P31] |
| 103954 | M | 215295 | - | Algerian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K25:P32] |
| 103955 | F | 215296 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K26:P33] |
| 103956 | M | 215297 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K27:P34] |
| 103958 | M | 215298 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:I.1(P35)] |
| 103961 | F | 215299 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K29:P36] |
| 103962 | F | 215300 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:II.1(P38)] |
| 103965 | F | 215301 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K31:P39] |
| 103968 | F | 215304 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K34:P42] |
| 103969 | F | 215305 |
- | Pakistani | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.2(P45)] |
| 103971 | F | 215305 |
- | Pakistani | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:I.2(P43)] |
| 103972 | M | 215305 |
- | Pakistani | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.1(P44)] |
| 103974 | M | 215307 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K37:P47] |
| 103975 | F | 215308 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:II.1(P49)] |
| 103977 | F | 215308 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:I.2(P48)] |
| 103978 | M | 215309 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K39:P50] |
| 103979 | M | 215310 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K40:P51] |
| 103980 | F | 215311 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K41:P52] |
| 103981 | M | 215312 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K42:P53] |
| 103982 | F | 215313 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K43:P54] |
| 103983 | M | 215314 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K44:P55] |
| 103984 | M | 215315 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K45:P56] |
| 103985 | M | 215316 | - | Portuguese | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K46:P57] |
| 103986 | M | 215317 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K47:P58] |
| 104002 | F | 215323 |
- | Recurrent upper respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
| 104052 | F | 215328 |
- | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN110]; GRID:000796 [UPN110(II.1)] |
| 104053 | M | 215329 | - | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:19891924 [Patient] | |
| 104054 | F | 215330 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN70]; PMID:18835223 [UPN70]; GRID:000796 [UPN70] |
| 104056 | M | 215332 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN114]; GRID:000796 [UPN114] |
| 104057 | M | 215333 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN86]; GRID:000796 [UPN86] |
| 104062 | F | 215338 | - | Colombian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN29]; PMID:18835223 [UPN29]; GRID:000796 [UPN29] |
| 104063 | M | 215339 | - | Colombian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN31]; PMID:18835223 [UPN31]; GRID:000796 [UPN31] |
| 104064 | M | 215340 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN43]; GRID:000796 [UPN43] |
| 104068 | F | 215344 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN126]; GRID:000796 [UPN126] |
| 104073 | M | 215349 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN135]; GRID:000796 [UPN135] |
| 104074 | F | 215350 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN79]; PMID:18835223 [UPN79]; GRID:000796 [UPN79] |
| 104075 | M | 215351 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN98]; GRID:000796 [UPN98] |
| 104076 | F | 215352 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN25]; GRID:000796 [UPN25] |
| 104077 | F | 215353 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN37]; GRID:000796 [UPN37] |
| 104078 | M | 215354 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN44]; GRID:000796 [UPN44] |
| 104080 | M | 215356 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN61]; GRID:000796 [UPN61] |
| 104081 | M | 215357 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN72]; GRID:000796 [UPN72] |
| 104082 | M | 215358 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN77]; GRID:000796 [UPN77] |
| 104086 | M | 215362 |
- | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN60]; GRID:000796 [UPN60(I.1)] |
| 104088 | F | 215364 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN118]; GRID:000796 [UPN118] |
| 104091 | F | 215367 |
- | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN2]; PMID:18835223 [UPN2]; GRID:000796 [UPN2(II.4)] |
| 104092 | F | 215368 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN46]; GRID:000796 [UPN46] |
| 104093 | M | 215369 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN102]; GRID:000796 [UPN102] |
| 104098 | F | 215374 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN16]; PMID:18835223 [UPN16]; GRID:000796 [UPN16] |
| 104099 | M | 215375 | - | Colombian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN32]; PMID:18835223 [UPN32]; GRID:000796 [UPN32] |
| 104100 | M | 215376 | - | Colombian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN33]; PMID:18835223 [UPN33]; GRID:000796 [UPN33] |
| 104102 | M | 215378 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN45]; GRID:000796 [UPN45] |
| 104105 | M | 215381 |
- | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN106]; GRID:000796 [Fam.UPN106:II.1] |
| 104107 | M | 215383 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN125]; GRID:000796 [UPN125] |
| 104108 | M | 215384 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN104]; GRID:000796 [UPN104] |
| 104109 | M | 215385 | - | North American | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN49]; GRID:000796 [UPN49] |
| 104110 | F | 215386 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN109]; GRID:000796 [UPN109] |
| 104111 | M | 215387 | - | Latino | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN27]; GRID:000796 [UPN27] |
| 104114 | M | 215390 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN116]; GRID:000796 [UPN116] |
| 104148 | M | 215392 |
- | Syrian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.A:III.5(P1)] |
| 104158 | M | 215393 |
- | Australian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
| 104165 | M | 215394 |
- | Indian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.C:II.4(P3)] |
| 104171 | M | 215395 |
- | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:III.1(P5)] | |
| 104174 | M | 215395 |
- | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:II.1(P4)] | |
| 104177 | M | 215396 |
- | Maori | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.E:I.1(P6)] |
| 104190 | F | 215399 | - | Latino | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN30] |
| 104191 | F | 215400 | - | Middle Eastern | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN136] |
| 104193 | M | 215402 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN147] |
| 104195 | M | 215404 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN152] |
| 104196 | M | 215405 |
- | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN153(I.1)] |
| 104202 | F | 215409 | - | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN159] |
| 104203 | F | 215410 |
- | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN160(II.2)] |
| 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 infection | Hyper-IgE recurrent infection syndrome 1 | PMID:21107604 [Case(II.1)] |
| 104300 | F | 215450 |
- | Greek | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20149460 [Patient] |
| 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 infection | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H8]; PMID:22126402 [case] | |
| 104356 | M | 215495 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P1] |
| 104357 | M | 215496 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P2] |
| 104358 | F | 215497 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P3] |
| 104359 | F | 215498 | - | French Caribbean | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P4] |
| 104360 | M | 215499 | - | French Caribbean | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P5] |
| 104362 | F | 215501 | - | Pakistani | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P7] |
| 104363 | M | 215502 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P8] |
| 104364 | F | 215503 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P9] |
| 104365 | F | 215504 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P10] |
| 104367 | F | 215506 | - | Moroccan | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P12] |
| 104368 | F | 215507 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P13] |
| 104369 | F | 215508 | - | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [V343F] | |
| 104370 | M | 215509 | - | Algerian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P14] |
| 104372 | M | 215511 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P16] |
| 104374 | F | 215513 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P18] |
| 104375 | M | 215514 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P19] |
| 104376 | M | 215515 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P20] |
| 104377 | M | 215516 | - | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P21] |
| 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 infection | Hyper-IgE recurrent infection syndrome 3 | PMID:37080116 [P19(II.1)] |
| 104449 | M | 215529 |
1 | Middle Eastern | Recurrent upper respiratory tract infection | Early-onset atopic inflammation | PMID:36884218 [Fam.C:II.1(P4)] |
| 104790 | M | 215574 |
- | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
| 104838 | M | 215578 |
- | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56] |
| 104845 | F | 215579 |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)] |
| 104876 | F | 215579 |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:III.1(III.1)]; PMID:26279205 [Fam.NZ:III.1(III1)]; PMID:29806948 [Fam.NZ:III.1(III.1)]; PMID:30323807 [Fam.2:III.1(III.1)]; PMID:150198 [Fam.AC:III.1(112)] |
| 104886 | F | 215613 |
- | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
| 104916 | M | 215613 |
- | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)] |
| 104923 | M | 215620 |
- | 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 infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.16(II.16)]; PMID:26279205 [Fam.NL1:II.20(18)]; PMID:29403474 [Fam.NL1 (5):II.20(18)]; PMID:11583829 [Fam.1:II.19(II:19)]; PMID:16639407 [Fam.1:II.20(18)]; PMID:150198 [Fam.AA:II.20(022)] |
| 104942 | F | 215622 |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.18(III.18)]; PMID:26279205 [Fam.NL1:III.19(57)]; PMID:29403474 [Fam.NL1 (5):III.19(57)]; PMID:150198 [Fam.AA:III.19(045)]; PMID:35242131 [Fam.2:I.1(P2)] |
| 104953 | F | 215622 |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.14(II.14)]; PMID:26279205 [Fam.NL1:II.18(16)]; PMID:29403474 [Fam.NL1 (5):II.18(16)]; PMID:11583829 [Fam.1:II.17(II:17)]; PMID:16639407 [Fam.1:II.18(16)]; PMID:150198 [Fam.AA:II.18(020)] |
| 104956 | F | 215622 |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.18(II.18)]; PMID:26279205 [Fam.NL1:II.22(19)]; PMID:29403474 [Fam.NL1 (5):II.22(19)]; PMID:11583829 [Fam.1:II.21(II:21)]; PMID:16639407 [Fam.1:II.22(19)]; PMID:150198 [Fam.AA:II.22(024)] |
| 104957 | M | 215622 |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.20(II.20)]; PMID:26279205 [Fam.NL1:II.23(21)]; PMID:29403474 [Fam.NL1 (5):II.23(21)]; PMID:11583829 [Fam.1:II.23(II:23)]; PMID:16639407 [Fam.1:II.23(21)]; PMID:150198 [Fam.AA:II.23(025)] |
| 104962 | F | 215622 |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.3(III.3)]; PMID:26279205 [Fam.NL1:III.4(25)]; PMID:29403474 [Fam.NL1 (5):III.4(25)]; PMID:11583829 [Fam.1:III.3(III:3)]; PMID:16639407 [Fam.1:III.4(25)]; PMID:150198 [Fam.AA:III.4(030)] |
| 104970 | M | 215622 |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.13(III.13)]; PMID:26279205 [Fam.NL1:III.12(34)]; PMID:29403474 [Fam.NL1 (5):III.12(34)]; PMID:11583829 [Fam.1:III.12(III:12)]; PMID:16639407 [Fam.1:III.12(34)]; PMID:150198 [Fam.AA:III.12(038)] |
| 104972 | F | 215622 |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.14(III.14)]; PMID:26279205 [Fam.NL1:III.14(36)]; PMID:29403474 [Fam.NL1 (5):III.14(36)]; PMID:11583829 [Fam.1:III.14(III:14)]; PMID:16639407 [Fam.1:III.14(36)]; PMID:27923702 [Patient 4]; PMID:27555455 [Patient 2]; PMID:150198 [Fam.AA:III.14(040)] |
| 104985 | F | 215622 |
- | Dutch | Recurrent upper respiratory tract infection | PMID:32278790 [Fam.NA:IV.3(IV.3)]; PMID:26279205 [Fam.NL1:IV.4(46)]; PMID:11583829 [Fam.1:IV.3(IV:2)]; PMID:16639407 [Fam.1:IV.4(46)]; PMID:150198 [Fam.AA:IV.4(060)] | |
| 104989 | F | 215622 |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.7(IV.7)]; PMID:26279205 [Fam.NL1:IV.8(49)]; PMID:29403474 [Fam.NL1 (5):IV.8(49)]; PMID:11583829 [Fam.1:IV.6(IV:6)]; PMID:16639407 [Fam.1:IV.6(49)]; PMID:150198 [Fam.AA:IV.8(064)] |
| 104994 | F | 215622 |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.11(IV.10)]; PMID:26279205 [Fam.NL1:IV.13(62)]; PMID:29403474 [Fam.NL1 (5):IV.13(62)]; PMID:150198 [Fam.AA:IV.14(070)]; PMID:35242131 [Fam.2.:II.1(P9)] |
| 105007 | F | 215622 |
- | Dutch | Recurrent upper respiratory tract infection | 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 infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [P1(III.4)] |
| 105023 | M | 215624 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.2(P2)] |
| 105043 | F | 215630 |
- | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
| 105045 | M | 215631 |
- | Caucasian | Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10] |
| 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 infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.6(P3)] |
| 105069 | M | 215624 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:IV.1(P5)] |
| 105075 | M | 215636 | - | Spanish | Recurrent upper respiratory tract infection | Combined immunodeficiency 36 | PMID:35464398 [P5(II.1)] |
| 105088 | M | 215638 | - | Japanese | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1] |
| 105093 | F | 215639 |
- | Israeli | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AA:II.2(II.2)]; PMID:29403474 [Patient 2 (8)]; PMID:27365489 [Fam.2:II.2(Pat.2)]; PMID:150198 [Fam.AF:II.2(127)] |
| 105102 | M | 215640 |
5 | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)] |
| 105105 | F | 215643 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)] |
| 105110 | M | 215644 | - | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
| 105112 | F | 215646 | - | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
| 105129 | M | 215647 |
- | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] | |
| 105130 | F | 215647 |
- | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:27379089 [Fam.1:c2(P2)]; PMID:32278790 [Fam.BA:II.2(II.2)]; PMID:29403474 [Fam.(10):c2(Patient 2)]; PMID:150198 [Fam.AG:IV.2(144)] | |
| 105131 | M | 215648 | - | Italian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BG.I.1]; PMID:29403474 [Patient 1 (6)]; PMID:27923702 [Patient 1]; PMID:27555455 [Patient 1]; PMID:150198 [Fam.AN:160] |
| 105142 | M | 210314 |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BF:II.1(II.1)]; PMID:29403474 [Fam.(13):II.2(Patient 3)]; PMID:27923702 [Fam.191:II.2(Patient 3)]; PMID:150198 [Fam.AO:II.3(165)] |
| 105143 | F | 215650 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
| 105152 | F | 215655 |
- | Spanish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [V.I.1]; PMID:29403474 [Patient 26 (11)]; PMID:150198 [Fam.AK:I.2(149)]; PMID:27461466 [Fam.827_01:26] |
| 105176 | F | 215661 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)] |
| 105185 | M | 215663 | 7 | Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7] | |
| 105194 | M | 215665 |
2 | Iranian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
| 105197 | M | 215666 |
- | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.3(III.3)]; PMID:29403474 [Fam.1 (9):III.3(F1.III-3)]; PMID:28115215 [Fam.1:III.3(F1.III-3)]; PMID:150198 [Fam.AQ:III.3(177)]; PMID:36356849 [Fam.6:III.3(F6:III:3)]; PMID:36105815 [Fam.H67R:III.3(H67R/4)] |
| 105209 | M | 215666 |
- | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.1(II.1)]; PMID:28115215 [Fam.1:II.1(F1.II-1)]; PMID:150198 [Fam.AQ:II.1(171)]; PMID:36356849 [Fam.6:II.1(F6:II:1)]; PMID:36105815 [Fam.H67R:II.1(H67R/1)] |
| 105212 | F | 215666 |
49 | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)] |
| 105214 | F | 215666 |
29 | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.2(III.2)]; PMID:29403474 [Fam.1 (9):III.2(F1.III-2)]; PMID:28115215 [Fam.1:III.2(F1.III-2)]; PMID:150198 [Fam.AQ:III.2(176)]; PMID:36356849 [Fam.6:III.2(F6:III:2)]; PMID:36105815 [Fam.H67R:III.2(H67R/3)] |
| 105218 | F | 215666 |
24 | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.6(III.6)]; PMID:29403474 [Fam.1 (9):III.6(F1.III-6)]; PMID:28115215 [Fam.1:III.6(F1.III-6)]; PMID:150198 [Fam.AQ:III.6(180)]; PMID:36356849 [Fam.6:III.6(F6:III:6)]; PMID:36105815 [Fam.H67R:III.6(H67R/5)] |
| 105219 | F | 215666 |
17 | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.7(III.7)]; PMID:29403474 [Fam.1 (9):III.7(F1.III-7)]; PMID:28115215 [Fam.1:III.7(F1.III-7)]; PMID:150198 [Fam.AQ:III.7(181)]; PMID:36356849 [Fam.6:III.7(F6:III:7)]; PMID:36105815 [Fam.H67R:III.7(H67R/6)] |
| 105220 | F | 215666 |
- | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)] |
| 105222 | F | 215666 |
0 | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:IV.1(IV.1)]; PMID:29403474 [Fam.1 (9):IV.2(F1.IV-2)]; PMID:28115215 [Fam.1:IV.2(F1.IV-2)]; PMID:150198 [Fam.AQ:IV.2(184)]; PMID:36356849 [Fam.6:IV.2(F6:IV:2)]; PMID:36105815 [Fam.H67R:IV.2(H67R/9)] |
| 105225 | F | 215671 |
- | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
| 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)] |
| 105245 | M | 215674 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AN:II.2(II.1)]; PMID:29403474 [Fam.(12):I.1(P9.1)]; PMID:28983403 [Fam.1:I.1(P9.1)]; PMID:150198 [Fam.AT:II.1(223)] |
| 105246 | M | 215674 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AN:III.2(III.1)]; PMID:29403474 [Fam.(12):II.1(P9.2)]; PMID:28983403 [Fam.1:II.1(P9.2)]; PMID:150198 [Fam.AT:III.2(226)] |
| 105256 | F | 210008 |
- | German | Recurrent upper respiratory tract infection | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
| 105287 | F | 215640 |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.A:II.4(II.4)]; PMID:29477724 [Fam.A:II.4(II:4)]; PMID:150198 [Fam.AU:II.5(233)] |
| 105290 | M | 215640 |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.2(III.2)]; PMID:29477724 [Fam.A:III.2(III:2)]; PMID:150198 [Fam.AU:III.2(235)]; PMID:32918165 [Fam.A:III.2(brother)] |
| 105296 | F | 215686 |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.C:I.2(I.2)]; PMID:29477724 [Fam.C:I.2(I:2)]; PMID:150198 [Fam.AW:I.2(246)] |
| 105301 | M | 215686 |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)] |
| 105302 | M | 215686 |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)] |
| 105308 | F | 215687 |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)] |
| 105313 | M | 215688 |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [E.II.1]; PMID:29477724 [Fam.E:II.1(II:1)]; PMID:150198 [Fam.AY:II.2(264)]; PMID:36105815 [Fam.I281M:II.2(I281M/1)] |
| 105316 | U | 215691 | - | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
| 105317 | M | 215692 |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)] |
| 105328 | F | 215693 |
- | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.L:II.1(II.1)]; PMID:29477724 [Fam.L:II.1(II:1)]; PMID:150198 [Fam.BF:II.1(283)] |
| 105332 | U | 215694 | - | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
| 105334 | F | 215696 | - | Indian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [O.II.1]; PMID:29477724 [Fam.O:II.1(II:1)]; PMID:150198 [Fam.BI:287] |
| 105335 | U | 215697 | - | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
| 105337 | U | 215699 | - | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268] |
| 105338 | U | 215700 | - | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
| 105348 | M | 215710 | 1 | Recurrent upper respiratory tract infection | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P1(II.-)] | |
| 105349 | F | 215711 | - | Recurrent upper respiratory tract infection | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P2] | |
| 105357 | M | 215719 | - | Sinusitis | Immunodeficiency, common variable, 8 | PMID:29804237 [P1] | |
| 105359 | F | 210314 |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BF:III.2(III.2)]; PMID:150198 [Fam.AO:III.1(166)]; GRID:001142 [Fam.#:III.1(FR113)] |
| 105363 | F | 215722 | - | Afro-American | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
| 105370 | F | 215725 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)] |
| 105405 | M | 215756 | - | Druze | Sinusitis | Immunodeficiency, common variable, 8 | PMID:33013830 [Patient(II.2)] |
| 105412 | F | 215762 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)] |
| 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 infection | NFKB1 insufficiency | PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y] |
| 105437 | M | 215769 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AT:II.3(II.3)]; PMID:150198 [Fam.BT:III.3(329)]; PMID:31803180 [Fam.C:II.3(S5)]; PMID:34619682 [P.183] |
| 105446 | M | 215769 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AT:II.2(II.2)]; PMID:150198 [Fam.BT:III.4(330)]; PMID:31803180 [Fam.C:II.4(S6)]; PMID:34619682 [P.114] |
| 105450 | F | 215770 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BI.I.1]; PMID:150198 [Fam.BU:II.1(337)]; PMID:31803180 [Fam.D:II.1(S7)]; PMID:34619682 [P.150] |
| 105458 | M | 215771 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BO.I.1]; PMID:150198 [Fam.BV:II.5(344)]; PMID:31803180 [Fam.E:II.4(S9)]; PMID:36105815 [Fam.R157P:II.5(S9)]; PMID:34619682 [P.210] |
| 105463 | M | 215772 |
- | Russian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AO.I.1]; PMID:150198 [Fam.BS:I.1(317)]; PMID:31803180 [Fam.B:I.1(S2)]; PMID:34619682 [P.122] |
| 105470 | M | 215774 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.BP:309]; PMID:31117086 [P35] |
| 105562 | M | 215805 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
| 105563 | F | 215806 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31026575 [P2]; PMID:31432443 [P6(II.1)] |
| 105567 | M | 215808 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31026575 [P3]; PMID:31432443 [P12] |
| 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 infection | 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 infection | NFKB1 insufficiency | PMID:29867916 [N234]; PMID:32278790 [Fam.AV:II.1(II.1)]; PMID:150198 [Fam.BL:II.1(294)] |
| 105657 | F | 215835 | - | Sinusitis | Activated p110-delta syndrome 1 | PMID:27379089 [11] | |
| 105671 | M | 215837 |
- | Spanish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
| 105676 | M | 215838 |
- | Ecuadorian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)] |
| 105679 | M | 215839 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
| 105687 | F | 215840 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BL:I.1(I.1)]; PMID:150198 [Fam.CE:I.2(416)]; PMID:36105815 [Fam.H67Y:I.2(H67Y/1)] |
| 105690 | F | 215840 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BL:II.1(II.1)]; PMID:150198 [Fam.CE:II.1(417)]; PMID:36105815 [Fam.H67Y:II.1(H67Y/2)] |
| 105691 | M | 215841 |
- | Australian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.W:I.1(W.I.1)]; PMID:150198 [Fam.CF:I.1(418)] |
| 105694 | F | 215842 |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.Y:II.1(Y.II.1)]; PMID:150198 [Fam.CG:II.1(423)] |
| 105715 | F | 211370 |
- | Turkish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AJ:III.3(III.3)]; PMID:150198 [Fam.BZ:III.3(382)]; GRID:001142 [Fam.*:III.3(FR097.2)] |
| 105731 | F | 215843 | - | Russian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
| 105740 | U | 215845 | - | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
| 105742 | F | 215847 | - | Brasilian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428] |
| 105745 | M | 215850 | - | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
| 105747 | F | 215852 |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)] |
| 105748 | M | 215852 |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AM:I.1(I.1)]; PMID:150198 [Fam.CA:I.1(397)] |
| 105750 | M | 215853 | - | North American | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
| 105751 | M | 215854 | - | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
| 105752 | M | 215855 | - | Russian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438] |
| 105753 | F | 215856 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AY.I.1]; PMID:150198 [Fam.CT:439] |
| 105754 | F | 215857 | - | Asian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AZ.I.1]; PMID:150198 [Fam.CU:440] |
| 105755 | F | 215858 | - | Russian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441] |
| 105756 | F | 215859 | - | Portuguese | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
| 105758 | M | 215861 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
| 105762 | F | 215863 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446] |
| 105763 | F | 215864 |
- | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BQ:I.1(I.1)]; PMID:150198 [Fam.DB:I.2(448)]; PMID:36105815 [Fam.D186Y:I.1(D186Y/1)] | |
| 105769 | F | 210925 |
- | Turkish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BT:I.1(I.1)]; PMID:150198 [Fam.DE:I.2(459)]; PMID:36105815 [Fam.R230K:I.1(R230K/1)] |
| 105775 | F | 215868 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
| 105776 | M | 215869 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1] |
| 105777 | M | 215870 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [CA.I.1]; PMID:150198 [Fam.DL:469]; PMID:36105815 [Fam.K326N/CA:K326N/2] |
| 105780 | F | 215873 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
| 105783 | F | 215876 |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
| 105824 | M | 215834 |
- | Spanish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AV:I.2(I.2)]; PMID:150198 [Fam.BL:I.1(292)] |
| 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)] |
| 105911 | F | 215906 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:III.1(P2)] |
| 105915 | M | 215906 |
- | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:II.2(P1)] |
| 105918 | F | 215908 |
- | Moroccan | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:I.1(P3)] |
| 105921 | F | 215908 |
- | Moroccan | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.2(P5)] |
| 105924 | F | 215908 |
- | Moroccan | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.5(P6)] |
| 105926 | M | 215909 | - | Japanese | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)] |
| 105935 | F | 215911 |
- | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.EB:II.1(559)]; PMID:34922003 [Fam.D:II.1(D1)] | |
| 105943 | M | 215912 |
- | Colombian/Swiss | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.C:II.1(P8)] |
| 105957 | M | 215914 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
| 105977 | F | 215918 | - | Japanese | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:35087518 [Fam.15:II.2(15.3)] |
| 105986 | F | 215921 |
- | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
| 105990 | F | 215921 |
- | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FG:III.1(631)]; PMID:36203612 [Fam.1:III.1(1.III.1)] | |
| 105999 | F | 215922 |
- | Recurrent upper respiratory tract infection | 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 infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CC:II.1(CC.II.1 (73))]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:35087518 [18.1] |
| 106041 | M | 215926 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
| 106043 | F | 215928 | - | Afro-American | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.HH:II.1(HH.II.1 (82))] |
| 106044 | F | 215929 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))] |
| 106047 | F | 215930 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
| 106048 | M | 210991 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:I.1(NN.I.1 (88))] |
| 106057 | F | 210991 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
| 106060 | F | 210991 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))] |
| 106062 | M | 210991 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.13(NN.II.11 (94))] |
| 106068 | M | 215931 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
| 106070 | F | 215933 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
| 106094 | M | 215947 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))] |
| 106100 | F | 215949 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.DDD:II.1(DDD.II.1 (133))]; PMID:30048690 [Fam.3:II.1(P3.2)] |
| 106105 | M | 215950 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
| 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 infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P1] |
| 106158 | M | 215957 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:28956255 [P5(II.2)]; PMID:31432443 [P2(II.2)] |
| 106161 | M | 215960 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P5] |
| 106163 | M | 215806 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [Fam.P6:II.2(P7)] |
| 106164 | M | 215963 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P8] |
| 106165 | M | 215964 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P9] |
| 106166 | M | 215965 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P10] |
| 106167 | F | 215966 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P11] |
| 106169 | F | 215968 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P13] |
| 106170 | F | 215969 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31432443 [P14] |
| 106172 | F | 215971 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FI:660]; GRID:001142 [FR302] |
| 106216 | F | 215975 |
- | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.2(701)]; PMID:36356849 [Fam.2:IV.2(F2:IV:2)] |
| 106217 | M | 215975 |
- | Finnish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.3(702)]; PMID:36356849 [Fam.2:IV.3(F2:IV:3)] |
| 106246 | F | 215977 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)] |
| 106259 | F | 215977 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)] |
| 106279 | M | 215977 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.IV.2:V.1(V.1)] |
| 106313 | F | 215982 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
| 106314 | M | 215983 | - | Caucasian | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P2] |
| 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 infection | NFKB1 insufficiency | PMID:150198 [Fam.EZ:II.1(612)]; PMID:36105815 [Fam.R284P:II.1(R284P/1)] | |
| 106346 | F | 215993 |
14 | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.EU:II.1(605)]; PMID:36105815 [Fam.H67R-2:II.1(H67R/11)] | |
| 106347 | M | 215994 | - | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.EY:609]; PMID:36105815 [R198C] | |
| 106363 | F | 216001 |
6 | Argentinian | Sinusitis | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
| 106371 | M | 216004 | 19 | Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)] | |
| 106390 | M | 216005 | - | Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:32996901 [Patient(II.1)] | |
| 106403 | M | 210197 |
- | Italian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.DZ:I.1(545)] |
| 106405 | F | 210197 |
- | Italian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.DZ:II.3(549)] |
| 106409 | M | 216010 |
27 | Chinese (China) | Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
| 106455 | M | 216019 | - | Egyptian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:32506362 [P4] |
| 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 infection | Immunodeficiency 22 | PMID:22985903 [Fam.1:II.1(patient)] | |
| 106592 | M | 216085 | 14 | Recurrent upper respiratory tract infection | 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 infection | Activated p110-d syndrome 2 | PMID:31117086 [P34] |
| 106679 | F | 216106 |
- | Dutch | Recurrent upper respiratory tract infection | 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:36105815 [G136S] |
| 106767 | M | 216125 | - | Recurrent upper respiratory tract infection | Combined immunodeficiency 14B | PMID:31449058 [P1(II.1)] | |
| 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)] |
| 106811 | M | 216157 | - | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:39059757 [P3] |
| 106812 | F | 216158 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
| 106912 | F | 216186 | 44 | Sinusitis | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
| 107138 | M | 216357 | 2 | Sinusitis | Activated p110-delta syndrome 1 | PMID:28469999 [Patient(II.1)] | |
| 107150 | F | 216363 | - | Iranian | Recurrent upper respiratory tract infection | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.4(P2)] |
| 107248 | F | 216397 | - | Kuwaiti | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | GRID:001502 [Patient] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).