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

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 210008tree icon 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 210182tree icon -,- 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 210205tree icon -,- 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 211370tree icon - 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 210282tree icon 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 210197tree icon -,- 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 211221tree icon - 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 211470tree icon - (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 210012tree icon - 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 210282tree icon 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 210014tree icon 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 210014tree icon 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 210189tree icon - German Recurrent upper respiratory tract infection Adenosine deaminase 2 deficiency PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)]
101401 F 210205tree icon -,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 210189tree icon 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 210205tree icon -,-,- 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 210656tree icon -,- 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 210220tree icon -,- 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 210314tree icon -,- 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 210401tree icon -,-,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 210220tree icon - 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 211008tree icon - 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 210575tree icon -,- 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 210220tree icon -,- 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 210205tree icon 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 212604tree icon - 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 212604tree icon - 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 212618tree icon 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 211089tree icon -,- 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 212629tree icon - 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 212631tree icon - 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 212637tree icon -,- 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 210925tree icon - 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 210260tree icon -,- 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 210300tree icon 1 North American Otitis media Immunodeficiency, common variable, 15 PMID:28782633 [Fam.I:III.3(P2)]
101732 M 210300tree icon - North American Otitis media Immunodeficiency, common variable, 15 PMID:28782633 [Fam.I:III.4(P3)]
101735 F 210300tree icon - North American Recurrent upper respiratory tract infection Immunodeficiency, common variable, 15 PMID:28782633 [Fam.I:III.8(P5)]
101736 M 210300tree icon - North American Recurrent upper respiratory tract infection Immunodeficiency, common variable, 15 PMID:28782633 [Fam.I:III.9(P6)]
101740 M 210300tree icon 1 North American Otitis media Immunodeficiency, common variable, 15 PMID:28782633 [Fam.I:III.13(P9)]
101741 F 210300tree icon 1 North American Recurrent upper respiratory tract infection Immunodeficiency, common variable, 15 PMID:28782633 [Fam.I:III.14(P10)]
101744 F 210182tree icon -,-,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 210876tree icon -,- 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 210908tree icon - Argentinian Sinusitis Adenosine deaminase 2 deficiency PMID:28493328 [P9(II.1)]
101775 M 210908tree icon - 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 210923tree icon -,- German Otitis media,Recurrent upper respiratory tract infection Immunodeficiency, common variable, 15 PMID:28782633 [Fam.II:I.2(P1)]
101789 M 210950tree icon - 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 215769tree icon -,- 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 211221tree icon -,- 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 211221tree icon 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 212237tree icon - 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 212237tree icon - Sudanese Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.A:III.1(A.II.1)]
101962 M 212237tree icon - Sudanese Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.A:III.2(A.II.2)]
101973 F 214053tree icon -,- 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 214053tree icon -,- Turkish Recurrent upper respiratory tract infection,Sinusitis Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.D:IV.3(D.II.2)]
101975 F 214053tree icon - 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 214351tree icon - Sudanese Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.B:IV.5(B.II.4)]
102129 F 214351tree icon - Sudanese Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.B:IV.1(B.II.1)]
102134 M 214352tree icon -,- 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 214393tree icon - 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 214393tree icon - 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 214767tree icon 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 214916tree icon - 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 214923tree icon - Brasilian Otitis media ARPC1B deficiency GRID:000604 [case(II.2)]; PMID:37349293 [Fam.B:II.1(Patient)]
102247 F 214924tree icon 10 Afghanistani Recurrent viral upper respiratory tract infections ARPC1B deficiency PMID:33679784 [Fam.II-6:II.3(II-3)]
102270 F 214928tree icon - Japanese Otitis media OAS1 immunodeficiency PMID:29455859 [Fam.A:II.4]
102374 M 214944tree icon - Saudi (unusual) Respiratory tract infection Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:V.I(P7)]
102396 F 214944tree icon - Saudi (unusual) Respiratory tract infection Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:IV.4(P5)]
102397 F 214944tree icon - Saudi (unusual) Respiratory tract infection Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:IV.5(P6)]
102398 F 214944tree icon - Saudi (unusual) Respiratory tract infection Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:V.2(P4)]
102410 F 214947tree icon 1 South Asian (unusual) Respiratory tract infection Hyper-IgE recurrent infection syndrome 4B PMID:28747427 [Fam.A:II.3(P1)]
102427 M 214950tree icon 0 French Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.B:II.3(P5)]
102433 M 214951tree icon - Irish Traveller (unusual) Respiratory tract infection Immunodeficiency 54 PMID:22354167 [Fam.B:II.1(P2.1)]
102436 F 214956tree icon - Bulgarian Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.C:III.1(P7)]
102439 M 214956tree icon - Bulgarian Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.C:II.2(P6)]
102444 M 214957tree icon - Slovak Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.D:II.3(P8)]
102449 F 214958tree icon 0 Mexican/Salvadoran Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.E:II.1(P9)]
102453 F 214959tree icon 1 Turkish Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.F:II.2(P10)]
102474 M 214963tree icon - Admixed Otitis media Hyper-IgE recurrent infection syndrome 4B PMID:33771552 [Patient(II.1)]
102477 M 214964tree icon -,- Turkish Otitis media,Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 4B PMID:30309848 [Patient(III.5)]
102509 M 214948tree icon - 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 214966tree icon -,- Japanese (unusual) Respiratory tract infection,Sinusitis APRIL deficiency PMID:32298700 [Patient(V.3)]
102630 M 214970tree icon - European Otitis media Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.2:II.1(P2)]
102645 M 214974tree icon 1 Caucasian Otitis media Immunodeficiency 98 with autoinflammation PMID:33512449 [Fam.6:II.1(P6)]
102648 M 214975tree icon 4 Czech Recurrent upper respiratory tract infection Immunodeficiency 98 with autoinflammation PMID:34981838 [Fam.1:II.1(Patient A)]
102649 M 214975tree icon - Czech Recurrent upper respiratory tract infection Immunodeficiency 98 with autoinflammation PMID:34981838 [Fam.1:II.2(Patient B)]
102654 F 214978tree icon 1,1 North American Recurrent upper respiratory tract infection,Sinusitis Immunodeficiency 8 PMID:19097825 [Patient(II.2)]; PMID:18836449 [Patient(II.2)]
102659 F 214979tree icon 0 Moroccan (unusual) Respiratory tract infection Immunodeficiency 8 PMID:23522482 [P3(V.3)]
102660 M 214979tree icon 1 Moroccan (unusual) Respiratory tract infection Immunodeficiency 8 PMID:23522482 [Fam.P3:V.1(P1)]
102804 M 214991tree icon 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 214996tree icon - Italian Otitis media ARPC1B deficiency | Hartnup disease PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)]
102897 M 215007tree icon 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 215074tree icon - European/American (unusual) Respiratory tract infection Immunodeficiency 97 PMID:31554793 [A.1(II.1)]
102993 F 215077tree icon - Turkish Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:17676033 [Patient 2]
103002 F 215080tree icon - Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:17676033 [Patient 5]
103005 M 215081tree icon 30 North American Sinusitis ?Chronic infections and chronic pelvic pain PMID:23861857 [Patient(II.1)]
103009 F 215082tree icon - Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:17676033 [Patient 6]
103012 M 215083tree icon - Turkish Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:17676033 [Patient 7]
103015 M 215084tree icon - Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:17676033 [Patient 8]
103018 M 215085tree icon - Japanese Sinusitis Immunodeficiency 35 PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient]
103027 F 215087tree icon - 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 215089tree icon - 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 215092tree icon - 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 215095tree icon - Finnish Otitis media Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F1:II.7(P1)]
103061 M 215095tree icon - Finnish (unusual) Respiratory tract infection Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F1:II.9(P2)]
103062 M 215096tree icon -,- Finnish Otitis media,Recurrent upper respiratory tract infection Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F2:II.2(P3)]
103067 F 215097tree icon - Finnish Recurrent upper respiratory tract infection Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F3:II.3(P4)]
103110 M 215099tree icon - Omani Otitis media Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.2(P7)]
103132 M 215102tree icon - 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 215129tree icon - Saudi Otitis media infantile-onset multisystem autoimmune disease-3 PMID:36006710 [Fam.1:II.2(P1)]
103473 F 215134tree icon - French (unusual) Respiratory tract infection Immunodeficiency 55 PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)]
103482 F 215136tree icon - British Recurrent upper respiratory tract infection Immunodeficiency 55 PMID:28414293 [Fam.C:II.1(P4)]
103529 F 215153tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J001:I.1(Proband)]; PMID:21288777 [Fam.1:I.2(Proband)]
103531 F 215153tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J001:II.1(Daughter1)]; PMID:21288777 [Fam.1:II.1(Daughter)]
103547 M 215157tree icon - Mexican Otitis media ARPC1B deficiency PMID:36708766 [Fam.D:II.4(P6)]
103556 F 215158tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J002:III.1(Daughter)]; PMID:21288777 [Fam.2:III.1(Daughter)]
103560 M 215158tree icon - 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 215161tree icon - 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 215161tree icon - 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 215166tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J011:II.2(Proband)]; PMID:21288777 [Fam.4:II.2(Proband)]
103587 F 215166tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J011:II.1(Sister)]; PMID:21288777 [Fam.4:II.1(sister)]
103604 M 215170tree icon - Asian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J016:II.2(Proband)]; PMID:21288777 [Fam.5:II.1(Proband)]
103607 F 215171tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J017:II.1(Proband)]; PMID:21288777 [Fam.6:II.1(Proband)]
103612 M 215171tree icon - 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 215175tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J029:II.3(Proband)]; PMID:21288777 [Fam.7:II.3(Proband)]
103626 F 215175tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J029:II.2(Sister2)]; PMID:21288777 [Fam.7:II.2(sister2)]
103629 F 215175tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J029:III.2(Niece2)]; PMID:21288777 [Fam.7:III.2(niece)]
103633 F 215177tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J035:II.1(Daughter)]; PMID:21288777 [Fam.12:II.1(daughter)]
103635 M 215177tree icon - 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 215182tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J074:II.1(Daughter)]; PMID:21288777 [Fam.8:II.1(proband)]
103648 F 215182tree icon - 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 215182tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J074:II.2(Daughter2)]; PMID:21288777 [Fam.8:II.2(sister)]
103655 F 215184tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J087:II.1(Daughter)]; PMID:21288777 [Fam.9:II.1(Daughter)]
103656 M 215184tree icon - 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 215188tree icon - Caucasian Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:17881745 [Fam.J112:II.1(Son)]; PMID:21288777 [Fam.11:II.1(son)]
103667 M 215188tree icon - 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 215242tree icon -,- South Korean Otitis media,Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:19348930 [Patient(II.1)]
103880 F 215269tree icon - 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 215272tree icon -,- French Otitis media,Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:22751495 [Fam.K3:II.2(P4)]
103918 M 215272tree icon -,- 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 215275tree icon -,- French Otitis media,Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:22751495 [Fam.K6:II.1(P8)]
103925 F 215275tree icon -,- 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 215281tree icon -,- French Otitis media,Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:22751495 [Fam.K12:II.2(P16)]
103933 F 215281tree icon -,- 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 215287tree icon -,- French Otitis media,Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:22751495 [Fam.K18:P22]
103944 M 215287tree icon -,- 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 215293tree icon -,- French Otitis media,Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:22751495 [Fam.K23:II.2(P30)]
103952 M 215293tree icon -,- 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 215298tree icon -,- 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 215300tree icon -,- 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 215305tree icon -,- Pakistani Otitis media,Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:22751495 [Fam.K35:II.2(P45)]
103971 F 215305tree icon -,- Pakistani Otitis media,Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:22751495 [Fam.K35:I.2(P43)]
103972 M 215305tree icon -,- 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 215308tree icon -,- French Otitis media,Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:22751495 [Fam.K38:II.1(P49)]
103977 F 215308tree icon -,- 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 215323tree icon - 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 215328tree icon - 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 215362tree icon - 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 215367tree icon - 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 215381tree icon - 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 215392tree icon - Syrian Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:34137790 [Fam.A:III.5(P1)]
104158 M 215393tree icon - Australian Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:34137790 [Fam.B:II.2(P2)]
104165 M 215394tree icon - Indian Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:34137790 [Fam.C:II.4(P3)]
104171 M 215395tree icon - Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:34137790 [Fam.D:III.1(P5)]
104174 M 215395tree icon - Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:34137790 [Fam.D:II.1(P4)]
104177 M 215396tree icon - 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 215405tree icon - 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 215410tree icon - 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 215444tree icon - Ashkenazi Jewish Sinusitis Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28153428 [Patient(II.2)]
104296 M 215449tree icon - Chinese (China) Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:21107604 [Case(II.1)]
104300 F 215450tree icon - Greek Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:20149460 [Patient]
104307 F 215451tree icon - 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 215517tree icon - Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:21288777 [Fam.13:I.2(mother)]
104386 M 215518tree icon - Ivorian Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 3 PMID:37080116 [P19(II.1)]
104438 F 215527tree icon - Middle Eastern Recurrent bronchitis Early-onset atopic inflammation PMID:36884218 [Fam.A:II.1(P1)]
104449 M 215529tree icon 1 Middle Eastern Recurrent upper respiratory tract infection Early-onset atopic inflammation PMID:36884218 [Fam.C:II.1(P4)]
104453 F 215530tree icon 5 European (unusual) Respiratory tract infection Early-onset atopic inflammation PMID:36884218 [Fam.D:II.1(P5)]
104481 M 215536tree icon - Caucasian Recurrent viral upper respiratory tract infections Early-onset atopic inflammation PMID:36884218 [Fam.J:IV.2(P14)]
104540 M 215549tree icon - North African Otitis media X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.F:II.1(Patient F)]
104607 M 215556tree icon -,- (unusual) Respiratory tract infection,Otitis media X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.A:II.3(P1)]
104671 F 215568tree icon 2,- Lebanese (unusual) Respiratory tract infection,Otitis media Severe early onset systemic inflammation and autoimmunity PMID:37349293 [Fam.1:II.1(P1)]
104678 F 215569tree icon - Iranian (unusual) Respiratory tract infection Severe early onset systemic inflammation and autoimmunity PMID:37349293 [Fam.2:II.2(P2)]
104790 M 215574tree icon -,- 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 215578tree icon -,-,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 215579tree icon -,- 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 215579tree icon -,- 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 215613tree icon -,- 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 215613tree icon - 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 215620tree icon - Sinusitis Immunodeficiency, common variable, 14 PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)]
104932 F 215622tree icon - 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 215622tree icon - 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 215622tree icon -,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 215622tree icon - 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 215622tree icon 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 215622tree icon - 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 215622tree icon 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 215622tree icon -,- 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 215622tree icon - 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 215622tree icon 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 215622tree icon -,- 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 215622tree icon - 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 215623tree icon 36 Sinusitis Hyper-IgE recurrent infection syndrome 1 PMID:29803798 [Patient(II.2)]
105019 M 215624tree icon - French Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:31346092 [P1(III.4)]
105023 M 215624tree icon - 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 215628tree icon - Finnish Otitis media Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25349174 [Fam.3:II.1(Patient 3)]
105043 F 215630tree icon - 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 215631tree icon - Caucasian Sinusitis CTLA4 haploinsufficiency with autoimmune infiltration PMID:27379089 [P10]
105057 F 215635tree icon - 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 215624tree icon - French Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 1 PMID:31346092 [Fam.P1:III.6(P3)]
105069 M 215624tree icon - 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 215639tree icon 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 215640tree icon 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 215643tree icon -,- 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 215643tree icon - 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 215647tree icon -,- 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 215647tree icon -,- 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 210314tree icon -,- 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 215655tree icon - 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 215665tree icon 2,- Iranian Otitis media,Recurrent upper respiratory tract infection Immunodeficiency, common variable, 8 PMID:27888588 [Case(II.1)]
105197 M 215666tree icon - 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 215666tree icon - 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 215666tree icon 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 215666tree icon 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 215666tree icon 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 215666tree icon 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 215666tree icon 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 215666tree icon 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 215671tree icon -,- 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 215671tree icon - 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 215671tree icon -,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 215672tree icon 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 215674tree icon - 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 215674tree icon -,- 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 210008tree icon - German Recurrent upper respiratory tract infection PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)]
105287 F 215640tree icon -,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 215640tree icon - 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 215686tree icon -,- 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 215686tree icon - 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 215686tree icon - 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 215687tree icon -,- 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 215688tree icon 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 215692tree icon -,- 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 215693tree icon -,- 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 215693tree icon - 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 210314tree icon - 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 215762tree icon - 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 215767tree icon - Caucasian Sinusitis NFKB1 insufficiency PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200]
105433 F 215768tree icon -,- 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 215769tree icon -,- 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 215769tree icon -,- 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 215770tree icon -,- 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 215771tree icon 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 215771tree icon -,- 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 215772tree icon -,- 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 215775tree icon 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 215807tree icon 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 215831tree icon - Chinese (China) Sinusitis Immunodeficiency, common variable, 8 PMID:30363934 [case 1(I.2)]
105649 F 215834tree icon - 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 215672tree icon - 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 215837tree icon - 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 215838tree icon - 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 215839tree icon -,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 215840tree icon -,- 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 215840tree icon - 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 215841tree icon - 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 215842tree icon - 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 211370tree icon - 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 215852tree icon - 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 215852tree icon - 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 215864tree icon - 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 210925tree icon - 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 215871tree icon - 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 215876tree icon - Caucasian Recurrent upper respiratory tract infection NFKB1 insufficiency PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)]
105791 F 215877tree icon - Spanish (unusual) Respiratory tract infection Immunodeficiency, common variable, 14 PMID:37876937 [Fam.1:II.1(1.1)]
105793 M 215877tree icon - Spanish (unusual) Respiratory tract infection Immunodeficiency, common variable, 14 PMID:37876937 [Fam.1:I.2(1.2)]
105794 M 215878tree icon - 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 215881tree icon 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 215834tree icon - 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 215888tree icon 14 Romani Otitis media Immunodeficiency, common variable, 14 PMID:37876937 [Fam.3:II.1(3.1)]
105844 M 215889tree icon - Spanish (unusual) Respiratory tract infection Immunodeficiency, common variable, 14 PMID:37876937 [Fam.4:II.1(4.1)]
105859 F 215894tree icon -,- 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 215894tree icon 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 215894tree icon -,- 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 215903tree icon - Caucasian Otitis media Hyper-IgE recurrent infection syndrome 1 PMID:36917542 [Fam.A:II.2(young-sister)]
105911 F 215906tree icon - French Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 4A PMID:37273120 [Fam.A:III.1(P2)]
105915 M 215906tree icon - French Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 4A PMID:37273120 [Fam.A:II.2(P1)]
105918 F 215908tree icon - Moroccan Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 4A PMID:37273120 [Fam.B:I.1(P3)]
105921 F 215908tree icon - Moroccan Recurrent upper respiratory tract infection Hyper-IgE recurrent infection syndrome 4A PMID:37273120 [Fam.B:II.2(P5)]
105924 F 215908tree icon - 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 215911tree icon - Recurrent upper respiratory tract infection NFKB1 insufficiency PMID:150198 [Fam.EB:II.1(559)]; PMID:34922003 [Fam.D:II.1(D1)]
105943 M 215912tree icon - 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 215921tree icon - 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 215921tree icon - 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 215922tree icon - 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 215035tree icon - 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 215975tree icon - 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 215975tree icon - 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 215975tree icon -,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 215975tree icon 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 215771tree icon - 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 215985tree icon 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 215987tree icon - Italian Otitis media NFKB1 insufficiency PMID:150198 [Fam.FR:III.1(734)]; PMID:37600787 [Fam.1:III.1(index)]
106343 M 215993tree icon 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 215993tree icon 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 215998tree icon -,- (unusual) Respiratory tract infection,Otitis media Activated p110-d syndrome 2 PMID:34922003 [Fam.B:II.1(B1)]
106355 F 215999tree icon - 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 216001tree icon 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 216006tree icon - German (unusual) Respiratory tract infection CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [III.3(III.3)]
106403 M 210197tree icon - Italian Recurrent upper respiratory tract infection NFKB1 insufficiency PMID:150198 [Fam.DZ:I.1(545)]
106405 F 210197tree icon - Italian Recurrent upper respiratory tract infection NFKB1 insufficiency PMID:150198 [Fam.DZ:II.3(549)]
106409 M 216010tree icon 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 216013tree icon 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 216020tree icon 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 216021tree icon - Sinusitis NFKB1 insufficiency PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband]
106491 F 216044tree icon - 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 216089tree icon -,- 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 216089tree icon - 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 216089tree icon - 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 216089tree icon - 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 216106tree icon - 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 216121tree icon 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 216141tree icon - Sinusitis Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34619682 [P.227]
106794 F 216145tree icon - German Sinusitis Immunodeficiency, common variable, 14 PMID:34619682 [P.263]; PMID:39059757 [Fam.1:II.2(P2)]
106807 F 216145tree icon 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 216163tree icon - 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 216189tree icon - 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 216333tree icon - Japanese Otitis media Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [Fam.4:P4.1]
107103 M 216335tree icon - 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 216362tree icon 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 216364tree icon 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 216365tree icon 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 216394tree icon 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 216398tree icon - 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).