Recurrent upper respiratory tract infection
Basic details
Preferred term: Recurrent upper respiratory tract infection
Alt. terms: upper respiratory infections
HPO term: Recurrent upper respiratory tract infections
HPO code: HP:0002788
GenIA ID: 14
Last updated on: 2022-07-29 11:09:18
Cross ref. with other ontologies
NCIT: C35650
MESH: -
EFO: -
OAE:0000358
SNOMEDCT: -
ICD10: -
Description
An infectious process affecting the upper respiratory tract (nose, paranasal sinuses, pharynx, larynx, or trachea). Symptoms include congestion, sneezing, coughing, fever, and sore throat.
Hierarchical classification
PARENT terms
TERM
Recurrent upper respiratory tract infection
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | 14,-,14 | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3] |
101017 | F | 210232 | 2,2,2 | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | PMID:34975878 [Fam.F003:P003] | |
101019 | F | 210316 | 6,6,6 | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | PMID:34975878 [Fam.F004:P004] | |
101020 | F | 210008![]() |
28,-,28 | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:34975878 [Fam.F005:P005]; PMID:32278790 [Fam.AU:II.3(II.3)]; PMID:29403474 [Patient 28 (11)]; PMID:150198 [Fam.AM:II.4(157)]; PMID:27461466 [Fam.199_01:28] |
101021 | M | 210359 | 20,24,24 | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | PMID:34975878 [Fam.F006:P006] | |
101022 | M | 210482 | 16,16,16 | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | PMID:34975878 [Fam.F007:P007] | |
101024 | F | 210927 | 33,33,33 | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | PMID:34975878 [Fam.F009:P009] | ||
101025 | M | 210937 | 43,43,43 | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | PMID:34975878 [Fam.F010:P010] | ||
101026 | M | 210215 | 20,20,20 | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | PMID:34975878 [Fam.F011:P011] | ||
101027 | M | 211035 | 28,28,28 | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | PMID:34975878 [Fam.F012:P012] | ||
101028 | F | 210750 | - | German | Sinusitis | PMID:34975878 [Fam.F013:P013] | |
101038 | F | 210182![]() |
-,- | Caucasian | Recurrent respiratory infections,Recurrent upper respiratory tract 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 | Otitis media,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] | ||
101061 | F | 211392 | 19 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F031:P031] | ||
101063 | M | 210118 | - | German | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F411:P411]; PMID:34390440 [CMC01] | |
101065 | F | 211364 | -,-,- | (unusual) Respiratory tract infection,Otitis media,Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F033:P033] | |
101069 | F | 211370![]() |
- | Turkish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F039:P039]; PMID:32278790 [Fam.AJ:III.2(III.2)]; PMID:150198 [Fam.BZ:III.2(381)] |
101076 | F | 210226 | 18 | German | Sinusitis | PMID:34975878 [Fam.F041:P041] | |
101080 | F | 211150 | 61 | Sinusitis | PMID:34975878 [Fam.F046:P046] | ||
101081 | F | 211315 | 22 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F047:P047] | ||
101082 | F | 211226 | -,- | (unusual) Respiratory tract infection,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 | 38,40 | German | (unusual) Respiratory tract infection,Sinusitis | PMID:34975878 [Fam.F054:P054] | |
101089 | M | 211033 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F055:P055] | ||
101092 | M | 210772 | 42,- | Recurrent upper respiratory tract infection,Sinusitis | 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] |
101095 | M | 210286 | 7 | Otitis media | PMID:34975878 [Fam.F060:P060] | ||
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,Sinusitis | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101116 | M | 210282![]() |
19 | German | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.A:II.2(P2)]; PMID:16384931 [Fam.A:II.3(P2)]; PMID:19426217 [Fam.A:II.2(P2)]; PMID:28861081 [Fam.1:II.2(P2)]; PMID:35486341 [P005] |
101118 | F | 210735 | 20 | Sinusitis | Thrombophilia due to Factor V Leiden | PMID:31057532 [Fam.C:II.1] | |
101119 | M | 210264 | 3 | Otitis media | PMID:34975878 [Fam.F070:P070] | ||
101120 | M | 210221 | - | German | Sinusitis | PMID:34975878 [Fam.F071:P071] | |
101122 | M | 210197![]() |
-,- | Italian | (unusual) Respiratory tract infection,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 | -,18 | Caucasian | Recurrent upper respiratory tract infection,Sinusitis | 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] | |
101143 | F | 211219 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F088:P088] | ||
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 | 11,12 | German | Recurrent upper respiratory tract infection,Sinusitis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES55] |
101154 | F | 210005 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F097:P097] | ||
101155 | M | 210235 | - | German | Recurrent 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] | |
101167 | M | 211470![]() |
- | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)] | |
101174 | M | 210012![]() |
- | Dutch | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 20 | PMID:25926555 [Fam.Patient:I.1(father)] |
101177 | F | 212111 | 1 | Otitis media | PMID:34975878 [Fam.F407:P407] | ||
101178 | M | 210542 | 17,17,17 | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | PMID:34975878 [Fam.F114:P114] | ||
101183 | F | 210282![]() |
27 | German | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.A:II.1(P1)]; PMID:16384931 [Fam.A:II.2(P1)]; PMID:19426217 [Fam.A:II.1(P1)]; PMID:28861081 [Fam.1:II.1(P1)] |
101186 | F | 211471 | - | 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)] |
101214 | M | 210014![]() |
19 | German | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.B:II.2(P4)]; PMID:16384931 [Fam.B:II.3(P4)]; PMID:19426217 [Fam.B:II.3(P4)]; PMID:28861081 [Fam.2:II.2(P4)] |
101260 | M | 212144 | 2,- | Iranian | (unusual) Respiratory tract infection,Recurrent 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,Sinusitis | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16] |
101286 | F | 212146 | 4 | Saudi | Otitis media | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.3]; PMID:25468195 [Fam.C:II.3(P4)]; PMID:26707784 [P8] |
101312 | M | 212149 | 7,7 | Lebanese | Recurrent upper respiratory tract infection,Sinusitis | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.1(P2)]; PMID:26707784 [P16] |
101313 | F | 212149 | 10,10 | Lebanese | Recurrent upper respiratory tract infection,Sinusitis | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17] |
101343 | M | 210134 | - | Italian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3] |
101356 | F | 210135 | 9 | Arab | Otitis media | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2] |
101359 | F | 212157 | - | Turkish | Otitis media | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.8:II.1] |
101369 | M | 212161 | - | Turkish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:30479781 [P1(V.1)] |
101370 | F | 210424 | - | German | Sinusitis | PMID:34975878 [Fam.F133:P133] | |
101371 | M | 212161 | - | Turkish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:30479781 [Fam.P1:V.2(P2)] |
101375 | F | 212162 | 3 | Iranian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8] |
101376 | F | 212162 | 6,15 | Iranian | Recurrent upper respiratory tract infection,Sinusitis | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.2(P2)]; PMID:29528757 [Case 4]; PMID:26707784 [Fam.F:IV.2(P31)]; PMID:26993986 [Fam.F7:II.2(2)]; PMID:28512785 [P9] |
101379 | M | 212163 | 2 | Iranian | Sinusitis | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10] |
101380 | M | 212163 | -,- | Iranian | Recurrent upper respiratory tract infection,Sinusitis | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.1(P4)]; PMID:26707784 [Fam.C:IV.5(P26)]; PMID:28512785 [P11] |
101382 | M | 210641 | 20 | German | Sinusitis | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.3(II.3)]; PMID:16384931 [Fam.C:II.3(P5)]; PMID:19426217 [Fam.C:II.3(P5)]; PMID:28861081 [Fam.3:II.3(P5)] |
101384 | M | 210217 | -,- | German | (unusual) Respiratory tract infection,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![]() |
-,17,- | Caucasian | Recurrent respiratory infections,Recurrent upper respiratory tract infection,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.17(A.II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)] |
101402 | M | 210690 | -,- | German | (unusual) Respiratory tract infection,Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F138:P138] |
101403 | M | 210189![]() |
31,- | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
101410 | F | 210902 | 44 | German | (unusual) Respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F141:P141]; PMID:28493328 [P4] |
101421 | F | 212170 | 6,3 | Iranian | Otitis media,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 respiratory infections,Recurrent upper respiratory tract infection,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.8(A.II.5)]; PMID:29729943 [Fam.A:II.8(A.II.5 (4))]; PMID:27418640 [P7(5)] |
101426 | M | 212173 | - | Iranian | Recurrent upper and lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 2]; PMID:26707784 [Fam.E:IV.2(P28)]; PMID:26993986 [Fam.F17:II.1(1)]; PMID:28512785 [P7] |
101435 | F | 212171 | 3 | Lebanese | Otitis media | Immunodeficiency, common variable, 8 | PMID:26707784 [P29(II.1)] |
101458 | F | 210656![]() |
-,- | Georgian | Recurrent respiratory infections,Recurrent upper respiratory tract 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,Sinusitis | NFKB1 insufficiency | PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27] |
101469 | F | 210220![]() |
-,- | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)] |
101479 | F | 210314![]() |
-,- | German | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)] |
101488 | M | 210401![]() |
-,-,41 | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
101490 | M | 211009 | - | Sinusitis | PMID:34975878 [Fam.F164:P164] | ||
101495 | M | 212458 | -,1 | Taiwanese | Recurrent upper respiratory tract infection,Sinusitis | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
101501 | F | 212459 | -,- | British | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:II.2(P4)] |
101509 | F | 212459 | -,- | British | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.2(P1)] |
101511 | M | 212459 | -,- | British | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.3(P2)] |
101512 | M | 212459 | -,- | British | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.4(P3)] |
101514 | M | 210220![]() |
- | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.089:I.1(I.1)]; PMID:26279205 [Fam.089:I.1(I1)]; PMID:29403474 [Fam.089 (5):I.1(I1)]; PMID:150198 [Fam.AB:III.3(093)]; PMID:27461466 [Fam.089:I.1(24)] |
101525 | F | 211543 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F174:P174] | ||
101527 | M | 210728 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F175:P175] | ||
101529 | M | 211278 | 2 | Otitis media | PMID:34975878 [Fam.F176:P176] | ||
101530 | M | 212460 | -,- | British | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.3(P5)] |
101532 | F | 212460 | -,- | British | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.5(P6)] |
101534 | M | 212460 | -,- | British | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.1(P11)] |
101538 | F | 212460 | -,- | British | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.3(P7)] |
101541 | M | 212461 | -,- | Slovenian | Otitis media,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 | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:II.1(P10)] |
101548 | M | 212462 | -,- | Irish | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:III.1(P9)] |
101549 | F | 212463 | -,- | British | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:I.1(P13)] |
101551 | M | 212463 | -,- | British | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:II.1(P12)] |
101552 | M | 212464 | -,- | French | Otitis media,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,Sinusitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
101560 | M | 212465 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.2(P15)] |
101561 | F | 212465 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.3(P16)] |
101563 | M | 212465 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.4(P17)] |
101565 | M | 211008![]() |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F188:P188]; PMID:32278790 [Fam.BS:II.1(II.1)]; PMID:150198 [Fam.DD:II.1(457)]; PMID:36105815 [Fam.M216V:II.1(M216V/1)] |
101566 | F | 210575![]() |
-,- | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN94]; PMID:18835223 [UPN94]; GRID:000796 [UPN94(II.1)] |
101569 | F | 210220![]() |
-,- | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:34975878 [Fam.F192:P192]; PMID:32278790 [AH.I.1]; PMID:150198 [Fam.AB:IV.3(097)]; PMID:31857261 [Patient 5]; GRID:001142 [FR023] |
101575 | M | 210900 | - | German | (unusual) Respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2] |
101578 | M | 210205![]() |
30,- | German | Recurrent respiratory infections,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] |
101587 | M | 212604![]() |
- | Scottish | Otitis media | ARPC1B deficiency | PMID:28368018 [Fam.2:II.1(P2)]; PMID:30771411 [P10(II.1)]; PMID:34673575 [Fam.2:II.3(P2)] |
101588 | M | 210935 | 42,42 | Recurrent upper respiratory tract infection,Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F206:P206] | |
101591 | M | 212604![]() |
- | Scottish | Otitis media | ARPC1B deficiency | PMID:28368018 [Fam.2:II.2(P3)]; PMID:30771411 [Fam.P10:II.2(P11)]; PMID:34673575 [Fam.2:II.2(P3)] |
101597 | M | 212618![]() |
0 | Jewish | Otitis media | ARPC1B deficiency | PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6] |
101616 | F | 211098 | - | Sinusitis | PMID:34975878 [Fam.F211:P211] | ||
101630 | M | 211089![]() |
-,- | German | Recurrent upper respiratory tract infection,Sinusitis | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:34975878 [Fam.F219:P219]; PMID:34975878 [Fam.F219:P219]; PMID:32278790 [BR.I.1]; PMID:32278790 [BR.I.1]; PMID:150198 [Fam.DC:II.2(453)]; PMID:150198 [Fam.DC:II.2(453)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)] |
101633 | M | 210945 | -,- | Recurrent upper respiratory tract infection,Sinusitis | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F220:P220]; PMID:30941118 [Fam.846:II.1(Pt#49)] | |
101635 | F | 211154 | -,-,- | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | 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] | ||
101652 | M | 212629![]() |
- | Nepalese | Otitis media | ARPC1B deficiency | PMID:30771411 [P4(II.1)] |
101664 | M | 211085 | - | Recurrent upper respiratory tract infection | PMID:34975878 [Fam.F232:P232] | ||
101667 | M | 212631![]() |
- | Moroccan | Otitis media | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
101673 | M | 211156 | -,- | Otitis media,Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
101693 | M | 212637![]() |
-,- | Nepalese | Otitis media,Recurrent upper respiratory tract infection | ARPC1B deficiency | PMID:30771411 [P14(II.1)] |
101697 | F | 211447 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F243:P243] | ||
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)] |
101712 | M | 212643 | - | Jordanian | Otitis media | Agammaglobulinemia 4 | PMID:25893637 [P1(II.6)] |
101713 | F | 212643 | -,- | Jordanian | (unusual) Respiratory tract infection,Otitis media | Agammaglobulinemia 4 | PMID:25893637 [Fam.P1:II.5(P2)] |
101717 | F | 210260![]() |
-,- | Caucasian | Recurrent respiratory infections,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)] |
101720 | F | 210022 | - | Iranian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.2(P5)]; PMID:25539626 [P1(II.1)]; PMID:26707784 [P12] |
101731 | M | 210300![]() |
1 | North American | Otitis media | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.3(P2)] |
101732 | M | 210300![]() |
- | North American | Otitis media | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.4(P3)] |
101735 | F | 210300![]() |
- | North American | Recurrent upper respiratory tract 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)] |
101740 | M | 210300![]() |
1 | North American | Otitis media | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.13(P9)] |
101741 | F | 210300![]() |
1 | North American | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.14(P10)] |
101744 | F | 210182![]() |
-,-,7 | Caucasian | Recurrent respiratory infections,Recurrent upper respiratory tract infection,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.2(B.III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)] |
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)] |
101755 | M | 210025 | 7 | North American | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
101756 | F | 210025 | 5 | North American | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)] |
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,Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
101773 | M | 210876![]() |
-,- | German | (unusual) Respiratory tract infection,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![]() |
- | 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 | Otitis media,Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.II:I.2(P1)] |
101789 | M | 210950![]() |
- | Swiss | Recurrent upper and lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P7:II.2(P8)] |
101790 | M | 210960 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F254:P254] | ||
101793 | M | 211028 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F256:P256] | ||
101794 | F | 211030 | -,8 | Italian | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
101795 | M | 211075 | 2 | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 10 | PMID:30941118 [Fam.981:II.5(Pt#28)] | |
101797 | M | 211108 | - | Caucasian | Recurrent 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,Sinusitis | NFKB1 insufficiency | PMID:34975878 [Fam.F259:P259]; PMID:32278790 [Fam.AT:III.2(III.2)]; PMID:150198 [Fam.BT:IV.1(319)]; PMID:31803180 [Fam.C:III.1(III.1)] |
101801 | M | 211151 | -,- | Otitis media,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,Sinusitis | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
101804 | M | 211221![]() |
2 | German | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:33995346 [Fam.A:IV.1(Pat3)]; PMID:150198 [Fam.DV:IV.1(533)]; PMID:36105815 [Fam.Y350C:IV.1(Y350C/3)] |
101807 | F | 211431 | - | Recurrent upper respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F264:P264] | |
101808 | F | 211441 | -,- | (unusual) Respiratory tract infection,Sinusitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F265:P265] | |
101810 | F | 211516 | 24 | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F268:P268] | ||
101812 | F | 211521 | -,- | Recurrent upper respiratory tract infection,Sinusitis | 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] | |
101829 | M | 211577 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F293:P293] | ||
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,Sinusitis | 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] | ||
101849 | F | 211636 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F311:P311] | |
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] | ||
101911 | F | 211833 | - | (unusual) Respiratory tract infection | PMID:34975878 [Fam.F337:P337] | ||
101922 | F | 211937 | -,- | (unusual) Respiratory tract infection,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 | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.6(D.II.4)]; PMID:34390440 [HIES52] |
101974 | F | 214053![]() |
-,- | Turkish | Recurrent upper respiratory tract infection,Sinusitis | 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] | |
102057 | M | 214275 | - | Iranian | (unusual) Respiratory tract infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES25] |
102074 | F | 214294 | - | Egyptian | Otitis media | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES27]; PMID:32738296 [P2] |
102084 | M | 214303 | - | Egyptian | Sinusitis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES02] |
102085 | M | 214304 | - | Egyptian | Otitis media | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES12] |
102090 | M | 214309 | - | Sinusitis | Immunodeficiency 58 | PMID:34390440 [HIES29] | |
102107 | M | 214329 | - | Portuguese | (unusual) Respiratory tract infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES26] |
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 | Otitis media,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 | (unusual) Respiratory tract infection,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 | -,28,28 | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102223 | F | 214918 | 58 | German | Sinusitis | Familial autoinflammatory Behcet-like syndrome | PMID:35486341 [P191] |
102224 | F | 214919 | - | German | Recurrent upper respiratory tract infection | DiGeorge syndrome | PMID:35486341 [P017] |
102239 | F | 214923![]() |
- | Brasilian | Otitis media | ARPC1B deficiency | GRID:000604 [case(II.2)]; PMID:37349293 [Fam.B:II.1(Patient)] |
102247 | F | 214924![]() |
10 | Afghanistani | Recurrent viral upper respiratory tract infections | ARPC1B deficiency | PMID:33679784 [Fam.II-6:II.3(II-3)] |
102270 | F | 214928![]() |
- | Japanese | Otitis media | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
102374 | M | 214944![]() |
- | Saudi | (unusual) Respiratory tract infection | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.I(P7)] |
102396 | F | 214944![]() |
- | Saudi | (unusual) Respiratory tract infection | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.4(P5)] |
102397 | F | 214944![]() |
- | Saudi | (unusual) Respiratory tract infection | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.5(P6)] |
102398 | F | 214944![]() |
- | Saudi | (unusual) Respiratory tract infection | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.2(P4)] |
102410 | F | 214947![]() |
1 | South Asian | (unusual) Respiratory tract infection | Hyper-IgE recurrent infection syndrome 4B | PMID:28747427 [Fam.A:II.3(P1)] |
102427 | M | 214950![]() |
0 | French | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.B:II.3(P5)] |
102433 | M | 214951![]() |
- | Irish Traveller | (unusual) Respiratory tract infection | Immunodeficiency 54 | PMID:22354167 [Fam.B:II.1(P2.1)] |
102436 | F | 214956![]() |
- | Bulgarian | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:III.1(P7)] |
102439 | M | 214956![]() |
- | Bulgarian | Recurrent 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)] |
102474 | M | 214963![]() |
- | Admixed | Otitis media | Hyper-IgE recurrent infection syndrome 4B | PMID:33771552 [Patient(II.1)] |
102477 | M | 214964![]() |
-,- | Turkish | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 4B | PMID:30309848 [Patient(III.5)] |
102509 | M | 214948![]() |
- | Irish Traveller | (unusual) Respiratory tract infection | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)] |
102530 | M | 214966![]() |
-,- | Japanese | (unusual) Respiratory tract infection,Sinusitis | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
102630 | M | 214970![]() |
- | European | Otitis media | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
102645 | M | 214974![]() |
1 | Caucasian | Otitis media | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
102648 | M | 214975![]() |
4 | Czech | Recurrent upper respiratory tract 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![]() |
1,1 | North American | Recurrent upper respiratory tract infection,Sinusitis | Immunodeficiency 8 | PMID:19097825 [Patient(II.2)]; PMID:18836449 [Patient(II.2)] |
102659 | F | 214979![]() |
0 | Moroccan | (unusual) Respiratory tract infection | Immunodeficiency 8 | PMID:23522482 [P3(V.3)] |
102660 | M | 214979![]() |
1 | Moroccan | (unusual) Respiratory tract infection | Immunodeficiency 8 | PMID:23522482 [Fam.P3:V.1(P1)] |
102804 | M | 214991![]() |
7 | North American | (unusual) Respiratory tract infection | Immunodeficiency 8 | PMID:25073507 [Fam.P1:II.1(P2)] |
102815 | M | 214994 | - | Recurrent upper respiratory tract infection | Immunodeficiency 8 | PMID:34913575 [Patient] | |
102819 | M | 214995 | 0 | (unusual) Respiratory tract infection | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency | PMID:14523047 [Patient(II.1)] | |
102865 | F | 214996![]() |
- | Italian | Otitis media | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)] |
102897 | M | 215007![]() |
0 | Turkish | Otitis media | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)] |
102911 | M | 215012 | - | Recurrent viral upper respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P1]; PMID:37419334 [P1(22)] | |
102913 | M | 215014 | 0 | (unusual) Respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P3] | |
102915 | F | 215016 | -,- | Otitis media,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)] | |
102919 | F | 215020 | - | Otitis media | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P8(II.1)]; PMID:37419334 [P8(22)] | |
102920 | F | 215021 | - | Recurrent upper respiratory tract 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)] | |
102937 | F | 215038 | - | Otitis media | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P26] | |
102942 | F | 215041 | - | Italian | Sinusitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P33]; PMID:37419334 [P33(22)] |
102945 | F | 215044 | - | Italian | Sinusitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P36]; PMID:37419334 [P36(22)] |
102948 | F | 215047 | - | Italian | Sinusitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P39]; PMID:37419334 [P39(22)] |
102958 | F | 215020 | - | (unusual) Respiratory tract infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [Fam.P8:I.1(P30)] | |
102984 | F | 215074![]() |
- | European/American | (unusual) Respiratory tract infection | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
102993 | F | 215077![]() |
- | Turkish | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 2] |
103002 | F | 215080![]() |
- | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 5] | |
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)] |
103038 | F | 215091 | - | Lebanese | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.6:F1] |
103039 | M | 215092![]() |
- | Lebanese | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.7:II.1(CA1)] |
103044 | M | 215094 | - | Swedish | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.9:SW] |
103051 | M | 215095![]() |
- | Finnish | Otitis media | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
103061 | M | 215095![]() |
- | Finnish | (unusual) Respiratory tract infection | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.9(P2)] |
103062 | M | 215096![]() |
-,- | Finnish | Otitis media,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)] |
103110 | M | 215099![]() |
- | Omani | Otitis media | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.2(P7)] |
103132 | M | 215102![]() |
- | Emirati | (unusual) Respiratory tract infection | Seizures, cortical blindness, microcephaly syndrome | PMID:26463574 [Fam.MC36500:IV.6(IV.3)] |
103293 | M | 215115 | - | Otitis media | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P6] | |
103448 | F | 215129![]() |
- | Saudi | Otitis media | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.1:II.2(P1)] |
103473 | F | 215134![]() |
- | French | (unusual) Respiratory tract infection | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
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)] |
103547 | M | 215157![]() |
- | Mexican | Otitis media | ARPC1B deficiency | PMID:36708766 [Fam.D:II.4(P6)] |
103556 | F | 215158![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:III.1(Daughter)]; PMID:21288777 [Fam.2:III.1(Daughter)] |
103560 | M | 215158![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:II.2(Proband)]; PMID:21288777 [Fam.2:II.2(Proband)]; PMID:23584561 [T3-2] |
103566 | F | 215160 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J006:Proband]; PMID:28587312 [P14]; PMID:21288777 [F384S]; PMID:23584561 [T2-2] |
103567 | F | 215161![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:III.1(Daughter)]; PMID:28587312 [P40]; PMID:21288777 [Fam.3:III.1(Daughter)] |
103569 | F | 215161![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:II.1(Proband)]; PMID:21288777 [Fam.3:II.1(Proband)] |
103577 | F | 215163 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J009:Proband]; PMID:21288777 [S611N] |
103584 | F | 215166![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.2(Proband)]; PMID:21288777 [Fam.4:II.2(Proband)] |
103587 | F | 215166![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.1(Sister)]; PMID:21288777 [Fam.4:II.1(sister)] |
103604 | M | 215170![]() |
- | Asian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J016:II.2(Proband)]; PMID:21288777 [Fam.5:II.1(Proband)] |
103607 | F | 215171![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.1(Proband)]; PMID:21288777 [Fam.6:II.1(Proband)] |
103612 | M | 215171![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.4(Brother2)]; PMID:28587312 [P32]; PMID:21288777 [Fam.6:II.4(brother)] |
103622 | M | 215175![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.3(Proband)]; PMID:21288777 [Fam.7:II.3(Proband)] |
103626 | F | 215175![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.2(Sister2)]; PMID:21288777 [Fam.7:II.2(sister2)] |
103629 | F | 215175![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:III.2(Niece2)]; PMID:21288777 [Fam.7:III.2(niece)] |
103633 | F | 215177![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:II.1(Daughter)]; PMID:21288777 [Fam.12:II.1(daughter)] |
103635 | M | 215177![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:I.2(Proband)]; PMID:21288777 [Fam.12:I.1(proband)] |
103640 | M | 215179 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J053:Proband]; PMID:21288777 [P639A] |
103641 | F | 215180 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J054:Proband]; PMID:21288777 [S465A] |
103647 | F | 215182![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.1(Daughter)]; PMID:21288777 [Fam.8:II.1(proband)] |
103648 | F | 215182![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:I.1(Proband)]; PMID:21288777 [Fam.8:I.2(mother)]; PMID:23584561 [T3-1] |
103650 | F | 215182![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.2(Daughter2)]; PMID:21288777 [Fam.8:II.2(sister)] |
103655 | F | 215184![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:II.1(Daughter)]; PMID:21288777 [Fam.9:II.1(Daughter)] |
103656 | M | 215184![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:I.1(Proband)]; PMID:21288777 [Fam.9:I.1(proband)] |
103657 | M | 215185 | - | European/American | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J088:Proband]; PMID:21288777 [R382L] |
103666 | M | 215188![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J112:II.1(Son)]; PMID:21288777 [Fam.11:II.1(son)] |
103667 | M | 215188![]() |
- | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J112:I.1(Proband)]; PMID:21288777 [Fam.11:I.1(proband)]; PMID:23584561 [T3-7] |
103671 | F | 215190 | - | North American | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J121:Proband]; PMID:21288777 [Q644del]; PMID:23584561 [T2/3-8/10] |
103716 | M | 215229 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J013:Proband]; PMID:21288777 [F384L] |
103717 | F | 215230 | - | Caucasian | Sinusitis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J015:Proband]; PMID:28587312 [P18]; PMID:21288777 [F621V] |
103788 | M | 215242![]() |
-,- | South Korean | Otitis media,Recurrent upper respiratory tract 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 | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K1:P1] |
103916 | M | 215271 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K2:P2] |
103917 | F | 215272![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:II.2(P4)] |
103918 | M | 215272![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:I.1(P3)] |
103921 | F | 215273 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K4:P5] |
103922 | F | 215274 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K5:P6] |
103923 | M | 215275![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:II.1(P8)] |
103925 | F | 215275![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:I.2(P7)] |
103926 | F | 215276 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K7:P9] |
103927 | F | 215277 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K8:P10] |
103928 | M | 215278 | -,- | Algerian | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K9:P11] |
103929 | M | 215279 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K10:P12] |
103930 | F | 215280 | -,- | Moroccan | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K11:P13] |
103931 | M | 215281![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.2(P16)] |
103933 | F | 215281![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:I.2(P14)] |
103935 | F | 215282 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K13:P17] |
103936 | M | 215283 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K14:P18] |
103937 | F | 215284 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K15:P19] |
103939 | F | 215286 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K17:P21] |
103940 | F | 215287![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:P22] |
103944 | M | 215287![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:II.2(P23)] |
103946 | F | 215290 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K20:P25] |
103947 | F | 215291 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K21:P26] |
103948 | F | 215292 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K22:P27] |
103949 | M | 215293![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.2(P30)] |
103952 | M | 215293![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.1(P29)] |
103953 | F | 215294 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K24:P31] |
103954 | M | 215295 | -,- | Algerian | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K25:P32] |
103955 | F | 215296 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K26:P33] |
103956 | M | 215297 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K27:P34] |
103958 | M | 215298![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:I.1(P35)] |
103961 | F | 215299 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K29:P36] |
103962 | F | 215300![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:II.1(P38)] |
103965 | F | 215301 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K31:P39] |
103968 | F | 215304 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K34:P42] |
103969 | F | 215305![]() |
-,- | Pakistani | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.2(P45)] |
103971 | F | 215305![]() |
-,- | Pakistani | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:I.2(P43)] |
103972 | M | 215305![]() |
-,- | Pakistani | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.1(P44)] |
103974 | M | 215307 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K37:P47] |
103975 | F | 215308![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:II.1(P49)] |
103977 | F | 215308![]() |
-,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:I.2(P48)] |
103978 | M | 215309 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K39:P50] |
103979 | M | 215310 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K40:P51] |
103980 | F | 215311 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K41:P52] |
103981 | M | 215312 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K42:P53] |
103982 | F | 215313 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K43:P54] |
103983 | M | 215314 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K44:P55] |
103984 | M | 215315 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K45:P56] |
103985 | M | 215316 | -,- | Portuguese | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K46:P57] |
103986 | M | 215317 | -,- | French | Otitis media,Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K47:P58] |
104002 | F | 215323![]() |
- | Recurrent upper respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
104004 | F | 215325 | - | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P8] | |
104052 | F | 215328![]() |
- | European | Recurrent upper respiratory tract infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN110]; GRID:000796 [UPN110(II.1)] |
104053 | M | 215329 | -,- | Otitis media,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)] |
104438 | F | 215527![]() |
- | Middle Eastern | Recurrent bronchitis | Early-onset atopic inflammation | PMID:36884218 [Fam.A:II.1(P1)] |
104449 | M | 215529![]() |
1 | Middle Eastern | Recurrent upper respiratory tract infection | Early-onset atopic inflammation | PMID:36884218 [Fam.C:II.1(P4)] |
104453 | F | 215530![]() |
5 | European | (unusual) Respiratory tract infection | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
104481 | M | 215536![]() |
- | Caucasian | Recurrent viral upper respiratory tract infections | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.2(P14)] |
104540 | M | 215549![]() |
- | North African | Otitis media | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
104607 | M | 215556![]() |
-,- | (unusual) Respiratory tract infection,Otitis media | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.A:II.3(P1)] | |
104671 | F | 215568![]() |
2,- | Lebanese | (unusual) Respiratory tract infection,Otitis media | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104678 | F | 215569![]() |
- | Iranian | (unusual) Respiratory tract infection | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.2:II.2(P2)] |
104790 | M | 215574![]() |
-,- | Recurrent upper respiratory tract infection,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
104838 | M | 215578![]() |
-,-,10 | Caucasian | Recurrent respiratory infections,Recurrent upper respiratory tract infection,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56] |
104845 | F | 215579![]() |
-,- | European | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)] |
104876 | F | 215579![]() |
-,- | European | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:III.1(III.1)]; PMID:26279205 [Fam.NZ:III.1(III1)]; PMID:29806948 [Fam.NZ:III.1(III.1)]; PMID:30323807 [Fam.2:III.1(III.1)]; PMID:150198 [Fam.AC:III.1(112)] |
104886 | F | 215613![]() |
-,- | Caucasian | Recurrent upper respiratory tract infection,Sinusitis | 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![]() |
-,59,- | Dutch | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.14(II.14)]; PMID:26279205 [Fam.NL1:II.18(16)]; PMID:29403474 [Fam.NL1 (5):II.18(16)]; PMID:11583829 [Fam.1:II.17(II:17)]; PMID:16639407 [Fam.1:II.18(16)]; PMID:150198 [Fam.AA:II.18(020)] |
104956 | F | 215622![]() |
- | Dutch | Recurrent upper respiratory tract 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![]() |
40,- | Dutch | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.20(II.20)]; PMID:26279205 [Fam.NL1:II.23(21)]; PMID:29403474 [Fam.NL1 (5):II.23(21)]; PMID:11583829 [Fam.1:II.23(II:23)]; PMID:16639407 [Fam.1:II.23(21)]; PMID:150198 [Fam.AA:II.23(025)] |
104962 | F | 215622![]() |
- | Dutch | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.3(III.3)]; PMID:26279205 [Fam.NL1:III.4(25)]; PMID:29403474 [Fam.NL1 (5):III.4(25)]; PMID:11583829 [Fam.1:III.3(III:3)]; PMID:16639407 [Fam.1:III.4(25)]; PMID:150198 [Fam.AA:III.4(030)] |
104970 | M | 215622![]() |
50,- | Dutch | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.13(III.13)]; PMID:26279205 [Fam.NL1:III.12(34)]; PMID:29403474 [Fam.NL1 (5):III.12(34)]; PMID:11583829 [Fam.1:III.12(III:12)]; PMID:16639407 [Fam.1:III.12(34)]; PMID:150198 [Fam.AA:III.12(038)] |
104972 | F | 215622![]() |
-,- | Dutch | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.14(III.14)]; PMID:26279205 [Fam.NL1:III.14(36)]; PMID:29403474 [Fam.NL1 (5):III.14(36)]; PMID:11583829 [Fam.1:III.14(III:14)]; PMID:16639407 [Fam.1:III.14(36)]; PMID:27923702 [Patient 4]; PMID:27555455 [Patient 2]; PMID:150198 [Fam.AA:III.14(040)] |
104985 | F | 215622![]() |
- | Dutch | Recurrent upper respiratory tract 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![]() |
1,- | Dutch | Otitis media,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,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.11(IV.10)]; PMID:26279205 [Fam.NL1:IV.13(62)]; PMID:29403474 [Fam.NL1 (5):IV.13(62)]; PMID:150198 [Fam.AA:IV.14(070)]; PMID:35242131 [Fam.2.:II.1(P9)] |
105007 | F | 215622![]() |
- | Dutch | Recurrent upper respiratory tract 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)] |
105028 | F | 215627 | 18 | French | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10] |
105034 | F | 215628![]() |
- | Finnish | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
105043 | F | 215630![]() |
- | Caucasian | Recurrent upper respiratory tract 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![]() |
11,- | Israeli | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AA:II.2(II.2)]; PMID:29403474 [Patient 2 (8)]; PMID:27365489 [Fam.2:II.2(Pat.2)]; PMID:150198 [Fam.AF:II.2(127)] |
105102 | M | 215640![]() |
5 | European | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)] |
105105 | F | 215643![]() |
-,- | Caucasian | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)] |
105108 | M | 215643![]() |
- | Caucasian | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AB:I.2(I.2)]; PMID:29403474 [Fam.(7):I.1(Father)]; PMID:27338827 [Fam.1:I.2(I-2)]; PMID:150198 [Fam.AD:I.1(115)] |
105110 | M | 215644 | -,- | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
105112 | F | 215646 | -,- | Otitis media,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,Sinusitis | 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,Sinusitis | NFKB1 insufficiency | PMID:27379089 [Fam.1:c2(P2)]; PMID:32278790 [Fam.BA:II.2(II.2)]; PMID:29403474 [Fam.(10):c2(Patient 2)]; PMID:150198 [Fam.AG:IV.2(144)] | |
105131 | M | 215648 | -,-,- | Italian | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [BG.I.1]; PMID:29403474 [Patient 1 (6)]; PMID:27923702 [Patient 1]; PMID:27555455 [Patient 1]; PMID:150198 [Fam.AN:160] |
105142 | M | 210314![]() |
-,- | German | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.BF:II.1(II.1)]; PMID:29403474 [Fam.(13):II.2(Patient 3)]; PMID:27923702 [Fam.191:II.2(Patient 3)]; PMID:150198 [Fam.AO:II.3(165)] |
105143 | F | 215650 | -,- | German | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
105152 | F | 215655![]() |
- | Spanish | Recurrent upper respiratory tract 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 | 7,7 | (unusual) Respiratory tract infection,Sinusitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7] | |
105194 | M | 215665![]() |
2,- | Iranian | Otitis media,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![]() |
29,29 | Finnish | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.2(III.2)]; PMID:29403474 [Fam.1 (9):III.2(F1.III-2)]; PMID:28115215 [Fam.1:III.2(F1.III-2)]; PMID:150198 [Fam.AQ:III.2(176)]; PMID:36356849 [Fam.6:III.2(F6:III:2)]; PMID:36105815 [Fam.H67R:III.2(H67R/3)] |
105218 | F | 215666![]() |
24,25 | Finnish | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.6(III.6)]; PMID:29403474 [Fam.1 (9):III.6(F1.III-6)]; PMID:28115215 [Fam.1:III.6(F1.III-6)]; PMID:150198 [Fam.AQ:III.6(180)]; PMID:36356849 [Fam.6:III.6(F6:III:6)]; PMID:36105815 [Fam.H67R:III.6(H67R/5)] |
105219 | F | 215666![]() |
17 | Finnish | Recurrent upper respiratory tract 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![]() |
1,- | Finnish | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)] |
105222 | F | 215666![]() |
0,0 | Finnish | Otitis media,Recurrent upper respiratory tract 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,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
105226 | M | 215671![]() |
- | Finnish | (unusual) Respiratory tract infection | PMID:32278790 [Fam.F2:I.1(I.1)]; PMID:28115215 [Fam.2:I.1(F2.I-1)]; PMID:150198 [Fam.AR:I.1(187)]; PMID:36356849 [Fam.5:I.1(F5:I:1)] | |
105231 | M | 215671![]() |
-,1 | Finnish | (unusual) Respiratory tract infection,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)] |
105239 | F | 215672![]() |
7 | Finnish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.8(II.6)]; PMID:28115215 [Fam.3:II.6(F3.II-6)]; PMID:150198 [Fam.AS:II.14(209)]; PMID:36356849 [Fam.3:II.14(F3:II:14)]; PMID:36892687 [II:7(II.7)]; PMID:38593810 [Fam.1:II.13(F1.II-7)] |
105241 | M | 215673 | - | Kuwaiti | Recurrent upper and lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:27760045 [P3(II.1)] |
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 | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AN:III.2(III.1)]; PMID:29403474 [Fam.(12):II.1(P9.2)]; PMID:28983403 [Fam.1:II.1(P9.2)]; PMID:150198 [Fam.AT:III.2(226)] |
105248 | F | 215676 | 1 | Turkish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:28956255 [P2(II.1)] |
105256 | F | 210008![]() |
- | German | Recurrent upper respiratory tract infection | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105287 | F | 215640![]() |
-,49 | European | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.A:II.4(II.4)]; PMID:29477724 [Fam.A:II.4(II:4)]; PMID:150198 [Fam.AU:II.5(233)] |
105290 | M | 215640![]() |
- | European | Recurrent upper respiratory tract 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,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.C:I.2(I.2)]; PMID:29477724 [Fam.C:I.2(I:2)]; PMID:150198 [Fam.AW:I.2(246)] |
105301 | M | 215686![]() |
- | European | Recurrent upper respiratory tract 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,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)] |
105313 | M | 215688![]() |
17,-,- | European | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [E.II.1]; PMID:29477724 [Fam.E:II.1(II:1)]; PMID:150198 [Fam.AY:II.2(264)]; PMID:36105815 [Fam.I281M:II.2(I281M/1)] |
105314 | F | 215689 | - | European | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [F.II.1]; PMID:29477724 [Fam.F:II.1(II:1)]; PMID:150198 [Fam.AZ:265]; PMID:36105815 [V98D] |
105316 | U | 215691 | -,- | European | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
105317 | M | 215692![]() |
-,- | European | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)] |
105328 | F | 215693![]() |
-,- | European | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.L:II.1(II.1)]; PMID:29477724 [Fam.L:II.1(II:1)]; PMID:150198 [Fam.BF:II.1(283)] |
105331 | M | 215693![]() |
- | European | (unusual) Respiratory tract infection | PMID:32278790 [Fam.L:II.2(II.2)]; PMID:29477724 [Fam.L:II.2(II:2)]; PMID:150198 [Fam.BF:II.2(284)] | |
105332 | U | 215694 | -,-,- | European | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105334 | F | 215696 | - | Indian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [O.II.1]; PMID:29477724 [Fam.O:II.1(II:1)]; PMID:150198 [Fam.BI:287] |
105335 | U | 215697 | -,-,- | European | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
105337 | U | 215699 | -,- | European | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268] |
105338 | U | 215700 | -,- | European | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
105348 | M | 215710 | 1 | Recurrent upper respiratory tract 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] | |
105350 | M | 215712 | 4 | Omani | Otitis media | Immunodeficiency, common variable, 8 | PMID:28690850 [P1] |
105357 | M | 215719 | - | Sinusitis | Immunodeficiency, common variable, 8 | PMID:29804237 [P1] | |
105359 | F | 210314![]() |
- | German | Recurrent upper respiratory tract 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)] |
105388 | M | 215739 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31238161 [Fam.F1:P1] | |
105398 | F | 215749 | 4,4 | (unusual) Respiratory tract infection,Otitis media | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
105405 | M | 215756 | - | Druze | Sinusitis | Immunodeficiency, common variable, 8 | PMID:33013830 [Patient(II.2)] |
105408 | F | 215758 | - | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:33425813 [Case3] | |
105412 | F | 215762![]() |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)] |
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,Sinusitis | NFKB1 insufficiency | PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y] |
105437 | M | 215769![]() |
-,- | Caucasian | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.AT:II.3(II.3)]; PMID:150198 [Fam.BT:III.3(329)]; PMID:31803180 [Fam.C:II.3(S5)]; PMID:34619682 [P.183] |
105446 | M | 215769![]() |
-,- | Caucasian | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.AT:II.2(II.2)]; PMID:150198 [Fam.BT:III.4(330)]; PMID:31803180 [Fam.C:II.4(S6)]; PMID:34619682 [P.114] |
105450 | F | 215770![]() |
-,- | Caucasian | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [BI.I.1]; PMID:150198 [Fam.BU:II.1(337)]; PMID:31803180 [Fam.D:II.1(S7)]; PMID:34619682 [P.150] |
105453 | M | 215771![]() |
41 | Caucasian | Otitis media | NFKB1 insufficiency | PMID:32278790 [BO.I.2]; PMID:150198 [Fam.BV:II.3(342)]; PMID:31803180 [Fam.E:II.3(S8)]; PMID:36105815 [Fam.R157P:II.3(S8)] |
105458 | M | 215771![]() |
-,- | Caucasian | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [BO.I.1]; PMID:150198 [Fam.BV:II.5(344)]; PMID:31803180 [Fam.E:II.4(S9)]; PMID:36105815 [Fam.R157P:II.5(S9)]; PMID:34619682 [P.210] |
105463 | M | 215772![]() |
-,- | Russian | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [AO.I.1]; PMID:150198 [Fam.BS:I.1(317)]; PMID:31803180 [Fam.B:I.1(S2)]; PMID:34619682 [P.122] |
105470 | M | 215774 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.BP:309]; PMID:31117086 [P35] |
105471 | M | 215775![]() |
1 | Filipino | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T] |
105533 | M | 215791 | 9 | Portuguese | Otitis media | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105562 | M | 215805 | 1,- | Turkish | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
105563 | F | 215806 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31026575 [P2]; PMID:31432443 [P6(II.1)] |
105564 | M | 215807![]() |
3 | Spanish | (unusual) Respiratory tract infection | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
105567 | M | 215808 | - | Turkish | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:31026575 [P3]; PMID:31432443 [P12] |
105626 | M | 215822 | 1 | Caucasian | Otitis media | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.1(P3)] |
105627 | F | 215822 | - | Caucasian | Sinusitis | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.2(P4)] |
105628 | F | 215822 | - | Caucasian | Sinusitis | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.3(P5)] |
105629 | M | 215823 | - | Recurrent upper respiratory tract 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] | |
105660 | F | 215836 | - | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.3(Sibling 3)] | |
105666 | M | 215672![]() |
- | Finnish | Otitis media | NFKB1 insufficiency | PMID:32278790 [Fam.F3:III.2(III.2)]; PMID:150198 [Fam.AS:III.8(217)]; PMID:36356849 [Fam.3:III.8(F3:III:8)]; PMID:36892687 [III:2(III.2)]; PMID:38593810 [Fam.1:III.8(F1.III-8)] |
105671 | M | 215837![]() |
- | Spanish | Recurrent upper respiratory tract 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![]() |
-,10 | Caucasian | Otitis media,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,Sinusitis | NFKB1 insufficiency | PMID:32278790 [Fam.BL:I.1(I.1)]; PMID:150198 [Fam.CE:I.2(416)]; PMID:36105815 [Fam.H67Y:I.2(H67Y/1)] |
105690 | F | 215840![]() |
- | Caucasian | Recurrent upper respiratory tract 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 | 20,- | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
105752 | M | 215855 | - | Russian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438] |
105753 | F | 215856 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AY.I.1]; PMID:150198 [Fam.CT:439] |
105754 | F | 215857 | - | Asian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [AZ.I.1]; PMID:150198 [Fam.CU:440] |
105755 | F | 215858 | - | Russian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441] |
105756 | F | 215859 | - | Portuguese | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
105758 | M | 215861 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
105762 | F | 215863 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446] |
105763 | F | 215864![]() |
- | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BQ:I.1(I.1)]; PMID:150198 [Fam.DB:I.2(448)]; PMID:36105815 [Fam.D186Y:I.1(D186Y/1)] | |
105769 | F | 210925![]() |
- | Turkish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.BT:I.1(I.1)]; PMID:150198 [Fam.DE:I.2(459)]; PMID:36105815 [Fam.R230K:I.1(R230K/1)] |
105775 | F | 215868 | 25,-,- | German | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
105776 | M | 215869 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1] |
105777 | M | 215870 | - | Iranian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [CA.I.1]; PMID:150198 [Fam.DL:469]; PMID:36105815 [Fam.K326N/CA:K326N/2] |
105778 | F | 215871![]() |
- | Spanish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)] |
105780 | F | 215873 | - | German | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
105783 | F | 215876![]() |
- | Caucasian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
105791 | F | 215877![]() |
- | Spanish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:II.1(1.1)] |
105793 | M | 215877![]() |
- | Spanish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:I.2(1.2)] |
105794 | M | 215878![]() |
- | Spanish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.2:II.1(2.1)] |
105797 | M | 215879 | - | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S041] | |
105799 | M | 215881![]() |
0 | Pakistani | Otitis media | Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
105824 | M | 215834![]() |
- | Spanish | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:32278790 [Fam.AV:I.2(I.2)]; PMID:150198 [Fam.BL:I.1(292)] |
105839 | M | 215888![]() |
14 | Romani | Otitis media | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.3:II.1(3.1)] |
105844 | M | 215889![]() |
- | Spanish | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.4:II.1(4.1)] |
105859 | F | 215894![]() |
-,- | British | (unusual) Respiratory tract infection,Sinusitis | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)] |
105862 | F | 215894![]() |
1,- | British | (unusual) Respiratory tract infection,Otitis media | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:II.3(554)]; PMID:150198 [Fam.EA:II.3(554)]; PMID:34922003 [Fam.A:II.3(A2)]; PMID:34922003 [Fam.A:II.3(A2)] |
105864 | F | 215894![]() |
-,- | British | (unusual) Respiratory tract infection,Otitis media | NFKB1 insufficiency | PMID:150198 [Fam.EA:II.4(555)]; PMID:34922003 [Fam.A:II.4(A3)] |
105903 | F | 215903![]() |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.2(young-sister)] |
105911 | F | 215906![]() |
- | French | Recurrent upper respiratory tract 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 | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
106077 | M | 215934 | - | Caucasian | (unusual) Respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))] |
106094 | M | 215947 | - | Caucasian | Recurrent 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] |
106200 | F | 215975![]() |
- | Finnish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.2(693)]; PMID:36356849 [Fam.2:III.2(F2:III:2)] |
106209 | F | 215975![]() |
- | Finnish | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
106216 | F | 215975![]() |
-,18 | Finnish | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.2(701)]; PMID:36356849 [Fam.2:IV.2(F2:IV:2)] |
106217 | M | 215975![]() |
30,- | Finnish | Recurrent upper respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.3(702)]; PMID:36356849 [Fam.2:IV.3(F2:IV:3)] |
106246 | F | 215977 | -,- | Caucasian | (unusual) Respiratory tract infection,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 | (unusual) Respiratory tract infection,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 | (unusual) Respiratory tract infection,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 | -,12 | Caucasian | (unusual) Respiratory tract infection,Recurrent upper respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106314 | M | 215983 | -,- | Caucasian | (unusual) Respiratory tract infection,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)] | |
106327 | M | 215987![]() |
- | Italian | Otitis media | NFKB1 insufficiency | PMID:150198 [Fam.FR:III.1(734)]; PMID:37600787 [Fam.1:III.1(index)] |
106343 | M | 215993![]() |
27 | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.EU:I.1(603)]; PMID:36105815 [Fam.H67R-2:I.1(H67R/10)] | |
106346 | F | 215993![]() |
14 | Recurrent 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] | |
106352 | M | 215998![]() |
-,- | (unusual) Respiratory tract infection,Otitis media | Activated p110-d syndrome 2 | PMID:34922003 [Fam.B:II.1(B1)] | |
106355 | F | 215999![]() |
- | British | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:34922003 [Fam.C:II.1(C1)] |
106358 | M | 216000 | - | (unusual) Respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31993940 [Patient(II.1)] | |
106363 | F | 216001![]() |
6 | Argentinian | Sinusitis | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
106371 | M | 216004 | 19,19 | Recurrent upper respiratory tract infection,Sinusitis | 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)] | |
106393 | F | 216006![]() |
- | German | (unusual) Respiratory tract infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106403 | M | 210197![]() |
- | Italian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.DZ:I.1(545)] |
106405 | F | 210197![]() |
- | Italian | Recurrent upper respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.DZ:II.3(549)] |
106409 | M | 216010![]() |
27,27 | Chinese (China) | (unusual) Respiratory tract infection,Sinusitis | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
106419 | F | 216013![]() |
0 | Otitis media | T-negative/B-positive SCID type 1 | PMID:7481768 [AP(II.1)] | |
106455 | M | 216019 | - | Egyptian | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 8 | PMID:32506362 [P4] |
106456 | F | 216020![]() |
13 | Chinese (China) | (unusual) Respiratory tract infection | NFKB1 insufficiency | PMID:150198 [Fam.FS:II.1(737)]; PMID:37705523 [Fam.1:II.1(index)] |
106459 | M | 216021![]() |
- | 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 | (unusual) Respiratory tract infection,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)] |
106611 | M | 216089![]() |
- | Australian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:I.1(I.1)]; PMID:29114388 [Fam.A:I.1(I.1)] |
106612 | F | 216089![]() |
- | Australian | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:I.2(I.2)]; PMID:29114388 [Fam.A:I.2(I.2)] |
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,Sinusitis | 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] |
106750 | F | 216121![]() |
0 | Palestinian | (unusual) Respiratory tract infection | T-negative/B-positive SCID type 1 | PMID:32921793 [Fam.B:II.1(P1-B)] |
106767 | M | 216125 | - | Recurrent 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)] |
106807 | F | 216145![]() |
14 | German | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:34619682 [P.159]; PMID:39059757 [Fam.1:II.1(P1)] |
106811 | M | 216157 | - | German | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:39059757 [P3] |
106812 | F | 216158 | - | Recurrent upper respiratory tract infection | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
106816 | F | 216162 | -,- | (unusual) Respiratory tract infection,Otitis media | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
106819 | M | 216163![]() |
- | Chinese (China) | (unusual) Respiratory tract infection | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106912 | F | 216186 | 44 | Sinusitis | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
106939 | M | 216189![]() |
- | Caucasian | Recurrent pharyngitis | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
107043 | M | 216282 | 4 | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:27444043 [P1] | |
107045 | M | 216284 | - | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:28428270 [P1] | |
107046 | M | 216285 | 1 | (unusual) Respiratory tract infection | Activated p110-delta syndrome 1 | PMID:28428270 [P2] | |
107096 | F | 216332 | - | Japanese | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
107097 | F | 216333![]() |
- | Japanese | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.4:P4.1] |
107103 | M | 216335![]() |
- | Chinese (China) | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt1(II.2)] |
107138 | M | 216357 | 2 | Sinusitis | Activated p110-delta syndrome 1 | PMID:28469999 [Patient(II.1)] | |
107146 | M | 216362![]() |
5 | Caucasian | Recurrent pharyngitis | Adenosine deaminase 2 deficiency | PMID:26131734 [Fam.P1:II.2(P2)] |
107149 | M | 216363 | - | Iranian | Otitis media | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.3(P1)] |
107150 | F | 216363 | -,2 | Iranian | Otitis media,Recurrent upper respiratory tract infection | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.4(P2)] |
107151 | M | 216364![]() |
4 | Turkish | Recurrent upper and lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.A:II.1(Patient 1)] |
107156 | F | 216365![]() |
2 | Turkish | Otitis media | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.B:II.2(Patient 2)] |
107212 | F | 216374 | 1 | Arab | (unusual) Respiratory tract infection | Combined immunodeficiency 37 | PMID:31775018 [Patient] |
107245 | M | 216394![]() |
2 | Caucasian | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Fam.2:II.1(Pt#2)] |
107246 | M | 216395 | 2 | Caucasian | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Pt#1] |
107247 | F | 216396 | -,- | (unusual) Respiratory tract infection,Otitis media | Hyper-IgE recurrent infection syndrome 1 | GRID:001501 [case] | |
107248 | F | 216397 | -,2 | Kuwaiti | (unusual) Respiratory tract infection,Sinusitis | Hyper-IgE recurrent infection syndrome 1 | GRID:001502 [Patient] |
107249 | F | 216398![]() |
- | Argentinian | (unusual) Respiratory tract infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt7]; PMID:29378236 [Fam.1:Patient 1] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).