Recurrent otitis media
Basic details
Preferred term: Recurrent otitis media
Alt. terms: Frequent otitis media | Multiple episodes of otitis media | Otitis media, recurrent | Recurrent episodes of otitis media | Recurrent middle ear infection | Susceptibility to otitis media
HPO term: Recurrent otitis media
HPO code: HP:0000403
GenIA ID: 1192
Last updated on: 2024-12-09 15:16:58
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Hierarchical classification
Reported patients added to GenIA DB
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101021 | M | 210359 | 37 | German | Otitis media | PMID:34975878 [Fam.F006:P006] | |
| 101047 | F | 210205 |
- | Caucasian | Otitis media | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.5(A.II.3)]; PMID:29729943 [Fam.A:II.5(A.II.3 (3))] |
| 101062 | M | 212603 |
- | South Asian | Recurrent infections | ARPC1B deficiency | PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)] |
| 101065 | F | 211364 | - | Otitis media | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F033:P033] | |
| 101076 | F | 210226 | 18 | German | Otitis media | PMID:34975878 [Fam.F041:P041] | |
| 101087 | M | 211335 | - | German | Otitis media | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F053:P053] |
| 101095 | M | 210286 | 7 | Otitis media | PMID:34975878 [Fam.F060:P060] | ||
| 101115 | F | 210778 | - | Caucasian | Otitis media | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
| 101119 | M | 210264 | 3 | Otitis media | PMID:34975878 [Fam.F070:P070] | ||
| 101128 | M | 210897 | 18 | Caucasian | Otitis media | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07] |
| 101134 | F | 210901 | - | Otitis media | PMID:34975878 [Fam.F083:P083] | ||
| 101177 | F | 212111 | 1 | Otitis media | PMID:34975878 [Fam.F407:P407] | ||
| 101268 | F | 212145 | - | Iranian | Otitis media | 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] |
| 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] |
| 101376 | F | 212162 | 15 | Iranian | Otitis media | 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] |
| 101421 | F | 212170 | 6 | Iranian | Otitis media | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
| 101435 | F | 212171 | 3 | Lebanese | Otitis media | Immunodeficiency, common variable, 8 | PMID:26707784 [P29(II.1)] |
| 101461 | M | 210929 | - | German | Otitis media | 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] |
| 101488 | M | 210401 |
41 | German | Otitis media | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
| 101495 | M | 212458 | - | Taiwanese | Otitis media | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
| 101501 | F | 212459 | - | British | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:II.2(P4)] |
| 101509 | F | 212459 | - | British | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.2(P1)] |
| 101511 | M | 212459 | - | British | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.3(P2)] |
| 101512 | M | 212459 | - | British | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.4(P3)] |
| 101529 | M | 211278 | 2 | Otitis media | PMID:34975878 [Fam.F176:P176] | ||
| 101530 | M | 212460 | - | British | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.3(P5)] |
| 101532 | F | 212460 | - | British | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.5(P6)] |
| 101534 | M | 212460 | - | British | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.1(P11)] |
| 101538 | F | 212460 | - | British | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.3(P7)] |
| 101541 | M | 212461 | - | Slovenian | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.C:II.1(P8)] |
| 101546 | F | 212462 | - | Irish | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:II.1(P10)] |
| 101548 | M | 212462 | - | Irish | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:III.1(P9)] |
| 101549 | F | 212463 | - | British | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:I.1(P13)] |
| 101551 | M | 212463 | - | British | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:II.1(P12)] |
| 101552 | M | 212464 | - | French | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.F:II.1(P14)] |
| 101553 | M | 210256 | - | German | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
| 101560 | M | 212465 | - | French | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.2(P15)] |
| 101561 | F | 212465 | - | French | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.3(P16)] |
| 101563 | M | 212465 | - | French | Otitis media | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.4(P17)] |
| 101587 | M | 212604 |
- | Scottish | Otitis media | ARPC1B deficiency | PMID:28368018 [Fam.2:II.1(P2)]; PMID:30771411 [P10(II.1)]; PMID:34673575 [Fam.2:II.3(P2)] |
| 101591 | M | 212604 |
- | Scottish | Otitis media | ARPC1B deficiency | PMID:28368018 [Fam.2:II.2(P3)]; PMID:30771411 [Fam.P10:II.2(P11)]; PMID:34673575 [Fam.2:II.2(P3)] |
| 101592 | M | 212605 |
- | Moroccan | Recurrent infections | ARPC1B deficiency | PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient] |
| 101597 | M | 212618 |
0 | Jewish | Otitis media | ARPC1B deficiency | PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6] |
| 101601 | M | 212619 |
- | Italian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
| 101604 | M | 212620 |
- | Italian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
| 101608 | M | 212621 |
- | Canadian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3] |
| 101611 | M | 212622 |
- | Colombian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.D:II.4(P4)] |
| 101622 | F | 212623 |
- | Moroccan | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.E:II.1(P5)] |
| 101631 | F | 212624 |
- | Turkish | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.F:II.1(P6)] |
| 101652 | M | 212629 |
- | Nepalese | Otitis media | ARPC1B deficiency | PMID:30771411 [P4(II.1)] |
| 101667 | M | 212631 |
- | Moroccan | Otitis media | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
| 101673 | M | 211156 | - | Otitis media | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
| 101693 | M | 212637 |
- | Nepalese | Otitis media | ARPC1B deficiency | PMID:30771411 [P14(II.1)] |
| 101712 | M | 212643 | - | Jordanian | Otitis media | Agammaglobulinemia 4 | PMID:25893637 [P1(II.6)] |
| 101713 | F | 212643 | - | Jordanian | Otitis media | Agammaglobulinemia 4 | PMID:25893637 [Fam.P1:II.5(P2)] |
| 101731 | M | 210300 |
1 | North American | Otitis media | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.3(P2)] |
| 101732 | M | 210300 |
- | North American | Otitis media | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.4(P3)] |
| 101740 | M | 210300 |
1 | North American | Otitis media | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.13(P9)] |
| 101744 | F | 210182 |
7 | Caucasian | Otitis media | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.2(B.III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)] |
| 101753 | M | 210024 | - | Japanese | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
| 101754 | M | 210024 | - | Japanese | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.2(P11)] |
| 101764 | F | 210031 | - | Dutch | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
| 101783 | F | 210923 |
- | German | Otitis media | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.II:I.2(P1)] |
| 101800 | M | 215769 |
- | Caucasian | Otitis media | 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 | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
| 101812 | F | 211521 | - | Otitis media | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F271:P271] | |
| 102074 | F | 214294 | - | Egyptian | Otitis media | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES27]; PMID:32738296 [P2] |
| 102085 | M | 214304 | - | Egyptian | Otitis media | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES12] |
| 102134 | M | 214352 |
- | Sudanese | Otitis media | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.6(C.II.6)] |
| 102216 | F | 214916 |
- | Belgian | Otitis media | Severe congenital neutropenia 11 | PMID:32325141 [Patient(II.1)] |
| 102239 | F | 214923 |
- | Brasilian | Otitis media | ARPC1B deficiency | GRID:000604 [case(II.2)]; PMID:37349293 [Fam.B:II.1(Patient)] |
| 102245 | M | 214924 |
- | Afghanistani | Recurrent infections | ARPC1B deficiency | PMID:33679784 [Fam.II-6:II.1(II-1)] |
| 102270 | F | 214928 |
- | Japanese | Otitis media | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
| 102474 | M | 214963 |
- | Admixed | Otitis media | Hyper-IgE recurrent infection syndrome 4B | PMID:33771552 [Patient(II.1)] |
| 102477 | M | 214964 |
- | Turkish | Otitis media | Hyper-IgE recurrent infection syndrome 4B | PMID:30309848 [Patient(III.5)] |
| 102530 | M | 214966 |
11 | Japanese | Otitis media | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
| 102630 | M | 214970 |
- | European | Otitis media | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
| 102645 | M | 214974 |
1 | Caucasian | Otitis media | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
| 102654 | F | 214978 |
1 | North American | Otitis media | Immunodeficiency 8 | PMID:19097825 [Patient(II.2)]; PMID:18836449 [Patient(II.2)] |
| 102865 | F | 214996 |
- | Italian | Otitis media | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)] |
| 102897 | M | 215007 |
0 | Turkish | Otitis media | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)] |
| 102915 | F | 215016 | - | Otitis media | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P4]; PMID:37419334 [P4(22)] | |
| 102919 | F | 215020 | - | Otitis media | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P8(II.1)]; PMID:37419334 [P8(22)] | |
| 102937 | F | 215038 | - | Otitis media | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P26] | |
| 102945 | F | 215044 | - | Italian | Otitis media | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P36]; PMID:37419334 [P36(22)] |
| 103018 | M | 215085 |
- | Japanese | Otitis media | Immunodeficiency 35 | PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient] |
| 103032 | M | 215089 |
- | Hungarian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.4:II.1(S1)] |
| 103038 | F | 215091 | - | Lebanese | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.6:F1] |
| 103039 | M | 215092 |
- | Lebanese | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.7:II.1(CA1)] |
| 103044 | M | 215094 | - | Swedish | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.9:SW] |
| 103051 | M | 215095 |
- | Finnish | Otitis media | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
| 103062 | M | 215096 |
- | Finnish | Otitis media | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
| 103110 | M | 215099 |
- | Omani | Otitis media | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.2(P7)] |
| 103281 | F | 215111 |
- | Chinese (China) | Recurrent infections | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
| 103292 | F | 215114 | - | German | Recurrent infections | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
| 103293 | M | 215115 | - | Otitis media | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P6] | |
| 103448 | F | 215129 |
- | Saudi | Otitis media | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.1:II.2(P1)] |
| 103529 | F | 215153 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J001:I.1(Proband)]; PMID:21288777 [Fam.1:I.2(Proband)] |
| 103531 | F | 215153 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J001:II.1(Daughter1)]; PMID:21288777 [Fam.1:II.1(Daughter)] |
| 103547 | M | 215157 |
- | Mexican | Otitis media | ARPC1B deficiency | PMID:36708766 [Fam.D:II.4(P6)] |
| 103556 | F | 215158 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:III.1(Daughter)]; PMID:21288777 [Fam.2:III.1(Daughter)] |
| 103560 | M | 215158 |
- | Caucasian | Otitis media | 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 | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J006:Proband]; PMID:28587312 [P14]; PMID:21288777 [F384S]; PMID:23584561 [T2-2] |
| 103567 | F | 215161 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:III.1(Daughter)]; PMID:28587312 [P40]; PMID:21288777 [Fam.3:III.1(Daughter)] |
| 103569 | F | 215161 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:II.1(Proband)]; PMID:21288777 [Fam.3:II.1(Proband)] |
| 103577 | F | 215163 | - | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J009:Proband]; PMID:21288777 [S611N] |
| 103584 | F | 215166 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.2(Proband)]; PMID:21288777 [Fam.4:II.2(Proband)] |
| 103587 | F | 215166 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.1(Sister)]; PMID:21288777 [Fam.4:II.1(sister)] |
| 103604 | M | 215170 |
- | Asian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J016:II.2(Proband)]; PMID:21288777 [Fam.5:II.1(Proband)] |
| 103607 | F | 215171 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.1(Proband)]; PMID:21288777 [Fam.6:II.1(Proband)] |
| 103612 | M | 215171 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.4(Brother2)]; PMID:28587312 [P32]; PMID:21288777 [Fam.6:II.4(brother)] |
| 103622 | M | 215175 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.3(Proband)]; PMID:21288777 [Fam.7:II.3(Proband)] |
| 103626 | F | 215175 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.2(Sister2)]; PMID:21288777 [Fam.7:II.2(sister2)] |
| 103629 | F | 215175 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:III.2(Niece2)]; PMID:21288777 [Fam.7:III.2(niece)] |
| 103633 | F | 215177 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:II.1(Daughter)]; PMID:21288777 [Fam.12:II.1(daughter)] |
| 103635 | M | 215177 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:I.2(Proband)]; PMID:21288777 [Fam.12:I.1(proband)] |
| 103640 | M | 215179 | - | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J053:Proband]; PMID:21288777 [P639A] |
| 103641 | F | 215180 | - | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J054:Proband]; PMID:21288777 [S465A] |
| 103647 | F | 215182 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.1(Daughter)]; PMID:21288777 [Fam.8:II.1(proband)] |
| 103648 | F | 215182 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:I.1(Proband)]; PMID:21288777 [Fam.8:I.2(mother)]; PMID:23584561 [T3-1] |
| 103650 | F | 215182 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.2(Daughter2)]; PMID:21288777 [Fam.8:II.2(sister)] |
| 103655 | F | 215184 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:II.1(Daughter)]; PMID:21288777 [Fam.9:II.1(Daughter)] |
| 103656 | M | 215184 |
- | Caucasian | Otitis media | 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 | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J088:Proband]; PMID:21288777 [R382L] |
| 103666 | M | 215188 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J112:II.1(Son)]; PMID:21288777 [Fam.11:II.1(son)] |
| 103667 | M | 215188 |
- | Caucasian | Otitis media | 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 | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J121:Proband]; PMID:21288777 [Q644del]; PMID:23584561 [T2/3-8/10] |
| 103716 | M | 215229 | - | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J013:Proband]; PMID:21288777 [F384L] |
| 103717 | F | 215230 | - | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J015:Proband]; PMID:28587312 [P18]; PMID:21288777 [F621V] |
| 103788 | M | 215242 |
- | South Korean | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
| 103880 | F | 215269 |
- | Finnish | Recurrent infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
| 103914 | F | 215270 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K1:P1] |
| 103916 | M | 215271 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K2:P2] |
| 103917 | F | 215272 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:II.2(P4)] |
| 103918 | M | 215272 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:I.1(P3)] |
| 103921 | F | 215273 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K4:P5] |
| 103922 | F | 215274 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K5:P6] |
| 103923 | M | 215275 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:II.1(P8)] |
| 103925 | F | 215275 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:I.2(P7)] |
| 103926 | F | 215276 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K7:P9] |
| 103927 | F | 215277 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K8:P10] |
| 103928 | M | 215278 | - | Algerian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K9:P11] |
| 103929 | M | 215279 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K10:P12] |
| 103930 | F | 215280 | - | Moroccan | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K11:P13] |
| 103931 | M | 215281 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.2(P16)] |
| 103933 | F | 215281 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:I.2(P14)] |
| 103935 | F | 215282 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K13:P17] |
| 103936 | M | 215283 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K14:P18] |
| 103937 | F | 215284 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K15:P19] |
| 103939 | F | 215286 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K17:P21] |
| 103940 | F | 215287 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:P22] |
| 103944 | M | 215287 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:II.2(P23)] |
| 103946 | F | 215290 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K20:P25] |
| 103947 | F | 215291 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K21:P26] |
| 103948 | F | 215292 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K22:P27] |
| 103949 | M | 215293 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.2(P30)] |
| 103952 | M | 215293 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.1(P29)] |
| 103953 | F | 215294 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K24:P31] |
| 103954 | M | 215295 | - | Algerian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K25:P32] |
| 103955 | F | 215296 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K26:P33] |
| 103956 | M | 215297 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K27:P34] |
| 103958 | M | 215298 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:I.1(P35)] |
| 103961 | F | 215299 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K29:P36] |
| 103962 | F | 215300 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:II.1(P38)] |
| 103965 | F | 215301 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K31:P39] |
| 103968 | F | 215304 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K34:P42] |
| 103969 | F | 215305 |
- | Pakistani | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.2(P45)] |
| 103971 | F | 215305 |
- | Pakistani | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:I.2(P43)] |
| 103972 | M | 215305 |
- | Pakistani | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.1(P44)] |
| 103974 | M | 215307 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K37:P47] |
| 103975 | F | 215308 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:II.1(P49)] |
| 103977 | F | 215308 |
- | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:I.2(P48)] |
| 103978 | M | 215309 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K39:P50] |
| 103979 | M | 215310 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K40:P51] |
| 103980 | F | 215311 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K41:P52] |
| 103981 | M | 215312 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K42:P53] |
| 103982 | F | 215313 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K43:P54] |
| 103983 | M | 215314 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K44:P55] |
| 103984 | M | 215315 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K45:P56] |
| 103985 | M | 215316 | - | Portuguese | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K46:P57] |
| 103986 | M | 215317 | - | French | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K47:P58] |
| 104053 | M | 215329 | - | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:19891924 [Patient] | |
| 104252 | F | 215428 | - | North American | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P17]; PMID:21288777 [S668F] |
| 104332 | F | 215471 | - | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [W479C]; PMID:23584561 [T3-17]; PMID:26292779 [H3] |
| 104333 | F | 215472 | - | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [G618D]; PMID:23584561 [T2-5] | |
| 104336 | F | 215475 | - | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [N472D]; PMID:23584561 [T2-9] | |
| 104340 | M | 215479 | - | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [V637M]; PMID:23584561 [T2-15] | |
| 104349 | M | 215488 | - | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [del371-380]; PMID:23584561 [T3-14] | |
| 104369 | F | 215508 | - | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [V343F] | |
| 104385 | F | 215517 |
- | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:I.2(mother)] | |
| 104444 | F | 215528 |
3 | Spanish | Recurrent infections | Early-onset atopic inflammation | PMID:36884218 [Fam.B:II.2(P2)] |
| 104540 | M | 215549 |
- | North African | Otitis media | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
| 104607 | M | 215556 |
- | Otitis media | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.A:II.3(P1)] | |
| 104671 | F | 215568 |
- | Lebanese | Otitis media | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
| 104864 | F | 215598 |
- | Recurrent infections | Immunodeficiency, common variable, 14 | PMID:33864888 [S125]; PMID:37876937 [Fam.B:II.1(B.1)] | |
| 104972 | F | 215622 |
- | Dutch | Otitis media | 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)] |
| 104989 | F | 215622 |
1 | Dutch | Otitis media | 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)] |
| 105028 | F | 215627 | 18 | French | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10] |
| 105034 | F | 215628 |
- | Finnish | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
| 105045 | M | 215631 |
- | Caucasian | Otitis media | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10] |
| 105112 | F | 215646 | - | Otitis media | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
| 105129 | M | 215647 |
- | Otitis media | NFKB1 insufficiency | PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] | |
| 105130 | F | 215647 |
- | Otitis media | 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)] | |
| 105142 | M | 210314 |
- | German | Otitis media | 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)] |
| 105149 | M | 215654 |
- | Chinese (China) | Recurrent infections | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
| 105194 | M | 215665 |
- | Iranian | Otitis media | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
| 105214 | F | 215666 |
29 | Finnish | Otitis media | 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)] |
| 105220 | F | 215666 |
1 | Finnish | Otitis media | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)] |
| 105222 | F | 215666 |
0 | Finnish | Otitis media | 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)] |
| 105231 | M | 215671 |
1 | Finnish | Otitis media | 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)] |
| 105317 | M | 215692 |
- | European | Otitis media | 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)] |
| 105338 | U | 215700 | - | European | Otitis media | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
| 105350 | M | 215712 | 4 | Omani | Otitis media | Immunodeficiency, common variable, 8 | PMID:28690850 [P1] |
| 105361 | F | 215701 |
- | Pakistani | Recurrent infections | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.3(P2)] |
| 105398 | F | 215749 | 4 | Otitis media | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
| 105428 | M | 215766 |
- | Admixed | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)] |
| 105453 | M | 215771 |
41 | Caucasian | Otitis media | NFKB1 insufficiency | PMID:32278790 [BO.I.2]; PMID:150198 [Fam.BV:II.3(342)]; PMID:31803180 [Fam.E:II.3(S8)]; PMID:36105815 [Fam.R157P:II.3(S8)] |
| 105533 | M | 215791 | 9 | Portuguese | Otitis media | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
| 105616 | F | 215822 | - | Caucasian | Recurrent infections | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:II.4(P1)] |
| 105626 | M | 215822 | 1 | Caucasian | Otitis media | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.1(P3)] |
| 105627 | F | 215822 | - | Caucasian | Otitis media | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.2(P4)] |
| 105628 | F | 215822 | - | Caucasian | Otitis media | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.3(P5)] |
| 105666 | M | 215672 |
- | Finnish | Otitis media | NFKB1 insufficiency | PMID:32278790 [Fam.F3:III.2(III.2)]; PMID:150198 [Fam.AS:III.8(217)]; PMID:36356849 [Fam.3:III.8(F3:III:8)]; PMID:36892687 [III:2(III.2)]; PMID:38593810 [Fam.1:III.8(F1.III-8)] |
| 105679 | M | 215839 |
10 | Caucasian | Otitis media | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
| 105775 | F | 215868 | - | German | Otitis media | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
| 105799 | M | 215881 |
0 | Pakistani | Otitis media | Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
| 105800 | M | 215882 | - | Recurrent infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S112] | |
| 105839 | M | 215888 |
14 | Romani | Otitis media | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.3:II.1(3.1)] |
| 105859 | F | 215894 |
- | British | Otitis media | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)] |
| 105862 | F | 215894 |
- | British | Otitis media | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:II.3(554)]; PMID:150198 [Fam.EA:II.3(554)]; PMID:34922003 [Fam.A:II.3(A2)]; PMID:34922003 [Fam.A:II.3(A2)] |
| 105864 | F | 215894 |
- | British | Otitis media | NFKB1 insufficiency | PMID:150198 [Fam.EA:II.4(555)]; PMID:34922003 [Fam.A:II.4(A3)] |
| 105903 | F | 215903 |
- | Caucasian | Otitis media | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.2(young-sister)] |
| 105999 | F | 215922 |
- | Recurrent infections | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)] | |
| 106006 | M | 215922 |
- | Recurrent infections | PMID:150198 [Fam.FH:IV.1(652)]; PMID:36203612 [Fam.2:IV.1] | ||
| 106327 | M | 215987 |
- | Italian | Otitis media | NFKB1 insufficiency | PMID:150198 [Fam.FR:III.1(734)]; PMID:37600787 [Fam.1:III.1(index)] |
| 106352 | M | 215998 |
- | Otitis media | Activated p110-d syndrome 2 | PMID:34922003 [Fam.B:II.1(B1)] | |
| 106419 | F | 216013 |
0 | Otitis media | T-negative/B-positive SCID type 1 | PMID:7481768 [AP(II.1)] | |
| 106459 | M | 216021 |
- | Recurrent infections | NFKB1 insufficiency | PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband] | |
| 106547 | M | 216075 |
- | Dutch | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.C:II.1(P4)]; PMID:25888558 [Fam.1:III.1(P1)] |
| 106581 | F | 216082 |
- | Caucasian | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.E:II.1(P7)] |
| 106600 | M | 216087 |
- | French | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.2(P3)] |
| 106622 | M | 216091 |
- | Ashkenazi Jewish | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.4:II.1(P11)] |
| 106625 | F | 216092 |
- | Admixed | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.5:II.2(P13)] |
| 106630 | M | 216093 |
- | Ashkenazi Jewish | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.6:II.1(P16)] |
| 106636 | F | 216095 | - | Iranian | Otitis media | Activated p110-d syndrome 2 | PMID:31117086 [P34] |
| 106816 | F | 216162 | - | Otitis media | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
| 106912 | F | 216186 | 44 | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
| 107097 | F | 216333 |
- | Japanese | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.4:P4.1] |
| 107138 | M | 216357 | 2 | Otitis media | Activated p110-delta syndrome 1 | PMID:28469999 [Patient(II.1)] | |
| 107145 | F | 216362 |
- | Caucasian | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26131734 [P1(II.1)] |
| 107146 | M | 216362 |
5 | Caucasian | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26131734 [Fam.P1:II.2(P2)] |
| 107149 | M | 216363 | - | Iranian | Otitis media | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.3(P1)] |
| 107150 | F | 216363 | 2 | Iranian | Otitis media | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.4(P2)] |
| 107156 | F | 216365 |
2 | Turkish | Otitis media | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.B:II.2(Patient 2)] |
| 107245 | M | 216394 |
2 | Caucasian | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Fam.2:II.1(Pt#2)] |
| 107246 | M | 216395 | 2 | Caucasian | Otitis media | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Pt#1] |
| 107247 | F | 216396 | - | Otitis media | Hyper-IgE recurrent infection syndrome 1 | GRID:001501 [case] | |
| 107248 | F | 216397 | - | Kuwaiti | Otitis media | Hyper-IgE recurrent infection syndrome 1 | GRID:001502 [Patient] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).