Atopy
Basic details
Preferred term: Atopy
Alt. terms: hypersensitivity | atopia | atopic reactions
HPO term: Immunologic hypersensitivity
HPO code: HP:0100326
GenIA ID: 366
Last updated on: 2024-01-08 22:44:37
Cross ref. with other ontologies
NCIT: C41366
MESH: D006967
EFO:0002686
OAE:0000584
SNOMEDCT: -
ICD10: -
Description
An immune response that occurs following exposure to an innocuous antigen, but that does not require the presence of preformed antibodies to the antigen. It can result in harmful reactions upon subsequent exposure to that particular antigen.
Hierarchical classification
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | 32 | German | Allergy | 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 | - | German | Allergy | PMID:34975878 [Fam.F003:P003] | |
101019 | F | 210316 | - | German | Allergy | PMID:34975878 [Fam.F004:P004] | |
101020 | F | 210008![]() |
6 | German | Atopic dermatitis | 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] |
101024 | F | 210927 | - | Allergy | PMID:34975878 [Fam.F009:P009] | ||
101025 | M | 210937 | - | Allergy | PMID:34975878 [Fam.F010:P010] | ||
101026 | M | 210215 | - | Allergy | PMID:34975878 [Fam.F011:P011] | ||
101049 | F | 210205![]() |
- | Caucasian | Asthma | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.15(A.III.5)]; PMID:29729943 [Fam.A:III.15(A.III.5 (10))] |
101053 | F | 211287 | 0 | Celiac disease | PMID:34975878 [Fam.F022:P022] | ||
101058 | M | 210120 | - | Allergy | Immunodeficiency 31C | PMID:34390440 [CMC21] | |
101059 | M | 211386 | - | Allergy | PMID:34975878 [Fam.F030:P030]; PMID:31057532 [Fam.F:II.1] | ||
101061 | F | 211392 | - | Atopic dermatitis | PMID:34975878 [Fam.F031:P031] | ||
101063 | M | 210118 | - | German | Asthma | PMID:34975878 [Fam.F411:P411]; PMID:34390440 [CMC01] | |
101067 | M | 211264 | 7 | Asthma | PMID:34975878 [Fam.F036:P036] | ||
101076 | F | 210226 | 47 | German | Allergy | PMID:34975878 [Fam.F041:P041] | |
101085 | F | 210196 | 36 | Asthma | PMID:34975878 [Fam.F051:P051] | ||
101090 | M | 211257 | - | Allergy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13] | |
101093 | M | 211289 | - | German | Allergy | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
101095 | M | 210286 | 1 | Celiac disease | PMID:34975878 [Fam.F060:P060] | ||
101102 | M | 211415 | - | Allergy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F064:P064] | |
101103 | F | 211424 | - | Allergy | PMID:34975878 [Fam.F065:P065] | ||
101115 | F | 210778 | - | Caucasian | Celiac disease | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101125 | M | 210429 | 40 | German | Atopic dermatitis | Immunodeficiency, common variable, 1 | PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060] |
101127 | F | 210318 | 39 | German | Celiac disease | PMID:34975878 [Fam.F077:P077] | |
101129 | F | 210906 | 26 | German | Asthma | PMID:34975878 [Fam.F078:P078] | |
101131 | F | 210337 | 60 | German | Allergy | PMID:34975878 [Fam.F080:P080] | |
101134 | F | 210901 | - | Atopic dermatitis | PMID:34975878 [Fam.F083:P083] | ||
101138 | F | 211092 | - | Atopic dermatitis | PMID:34975878 [Fam.F086:P086] | ||
101147 | F | 211145 | - | Allergy | PMID:34975878 [Fam.F090:P090] | ||
101153 | M | 210757 | 37 | German | Allergy | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES55] |
101155 | M | 210235 | - | German | Allergy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098] |
101160 | F | 211433 | - | Allergy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F101:P101] | |
101162 | F | 211457 | - | Allergy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F103:P103] | |
101164 | F | 211460 | - | German | Allergy | PMID:34975878 [Fam.F105:P105] | |
101165 | M | 211461 | - | Allergy | PMID:34975878 [Fam.F106:P106] | ||
101195 | F | 212379 | - | Egyptian | Asthma | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES19] |
101199 | F | 211483 | - | German | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101203 | M | 211488 | - | Allergy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F125:P125] | |
101206 | F | 211500 | - | Allergy | PMID:34975878 [Fam.F129:P129] | ||
101268 | F | 212145 | 2 | Iranian | Allergy | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16] |
101354 | M | 212156 | - | Chinese (China) | Celiac disease | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.7:II.1] |
101356 | F | 210135 | 2 | Arab | Asthma | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2] |
101362 | F | 210895 | - | Allergy | PMID:34975878 [Fam.F131:P131] | ||
101370 | F | 210424 | - | German | Allergy | PMID:34975878 [Fam.F133:P133] | |
101375 | F | 212162 | 13 | Iranian | Asthma | 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] |
101403 | M | 210189![]() |
7 | German | Asthma | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
101426 | M | 212173 | 1 | Iranian | Asthma | 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] |
101444 | F | 210640 | - | Allergy | PMID:34975878 [Fam.F145:P145] | ||
101450 | F | 210409 | - | German | Allergy | PMID:34975878 [Fam.F149:P149] | |
101461 | M | 210929 | - | German | Allergy | NFKB1 insufficiency | PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27] |
101469 | F | 210220![]() |
- | German | Allergy | 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)] |
101475 | F | 210730 | - | Allergy | PMID:34975878 [Fam.F157:P157] | ||
101479 | F | 210314![]() |
- | German | Allergy | 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)] |
101485 | F | 210498 | - | German | Allergy | PMID:34975878 [Fam.F162:P162] | |
101498 | F | 210486 | - | German | Allergy | PMID:34975878 [Fam.F167:P167] | |
101514 | M | 210220![]() |
- | German | Allergy | 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)] |
101519 | F | 210437 | - | German | Allergy | PMID:34975878 [Fam.F172:P172] | |
101527 | M | 210728 | - | Asthma | PMID:34975878 [Fam.F175:P175] | ||
101544 | F | 211170 | - | Allergy | PMID:34975878 [Fam.F180:P180] | ||
101555 | F | 210756 | - | Allergy | PMID:34975878 [Fam.F183:P183] | ||
101564 | M | 210361 | - | German | Allergy | PMID:34975878 [Fam.F187:P187] | |
101567 | M | 211025 | - | Allergy | PMID:34975878 [Fam.F189:P189] | ||
101585 | F | 210671 | - | Allergy | PMID:34975878 [Fam.F203:P203] | ||
101591 | M | 212604![]() |
6 | Scottish | Asthma | 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 | Allergy | ARPC1B deficiency | PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient] |
101629 | F | 210990 | - | Allergy | PMID:34975878 [Fam.F218:P218] | ||
101635 | F | 211154 | - | German | Allergy | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
101639 | F | 210928 | - | Allergy | PMID:34975878 [Fam.F222:P222] | ||
101644 | F | 210918 | - | Allergy | PMID:34975878 [Fam.F224:P224] | ||
101651 | M | 210939 | 28 | Asthma | PMID:34975878 [Fam.F226:P226] | ||
101652 | M | 212629![]() |
- | Nepalese | Asthma | ARPC1B deficiency | PMID:30771411 [P4(II.1)] |
101660 | F | 211014 | - | Allergy | PMID:34975878 [Fam.F229:P229] | ||
101664 | M | 211085 | - | Allergy | PMID:34975878 [Fam.F232:P232] | ||
101669 | M | 211549 | - | Allergy | PMID:34975878 [Fam.F234:P234] | ||
101690 | F | 212636![]() |
- | Jordanian | Asthma | ARPC1B deficiency | PMID:30771411 [P13(IV.5)] |
101708 | F | 211547 | - | Allergy | PMID:34975878 [Fam.F246:P246] | ||
101740 | M | 210300![]() |
1 | North American | Asthma | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.13(P9)] |
101763 | M | 210030 | 3 | North American | Celiac disease | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.629:P18]; PMID:26206937 [P8] |
101773 | M | 210876![]() |
- | German | Allergy | NFKB1 insufficiency | PMID:34975878 [Fam.F413:P413]; PMID:32278790 [Fam.BK:II.1(II.1)]; PMID:150198 [Fam.CC:II.1(405)]; PMID:36105815 [R57C/1] |
101774 | M | 210908![]() |
- | Argentinian | Asthma | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
101795 | M | 211075 | - | Asthma | Immunodeficiency, common variable, 10 | PMID:30941118 [Fam.981:II.5(Pt#28)] | |
101799 | M | 211120 | - | Caucasian | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)] |
101801 | M | 211151 | 7 | Asthma | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
101802 | F | 211221![]() |
- | German | Asthma | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
101807 | F | 211431 | - | Celiac disease | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F264:P264] | |
101812 | F | 211521 | - | Allergy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F271:P271] | |
101817 | F | 211536 | - | Allergy | PMID:34975878 [Fam.F279:P279] | ||
101821 | F | 210122 | - | Allergy | PMID:34390440 [NEG027] | ||
101827 | M | 211564 | 2 | Celiac disease | PMID:34975878 [Fam.F291:P291] | ||
101834 | M | 212351 | - | German | Allergy | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES41] |
101837 | M | 211589 | - | Allergy | PMID:34975878 [Fam.F298:P298] | ||
101841 | F | 211599 | - | Allergy | PMID:34975878 [Fam.F302:P302] | ||
101849 | F | 211636 | - | Allergy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F311:P311] | |
101854 | M | 211650 | 60 | Atopic dermatitis | PMID:34975878 [Fam.F316:P316] | ||
101884 | M | 212237![]() |
2 | Sudanese | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
101897 | F | 211768 | 19 | Celiac disease | PMID:34975878 [Fam.F328:P328] | ||
101922 | F | 211937 | - | Asthma | PMID:34975878 [Fam.F342:P342] | ||
101926 | M | 210096 | - | Allergy | PMID:34390440 [NEG062] | ||
101946 | F | 211943 | 26 | Asthma | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F406:P406] | |
101948 | F | 211950 | - | Atopic dermatitis | PMID:34975878 [Fam.F349:P349] | ||
101951 | M | 212062 | - | Allergy | PMID:34975878 [Fam.F375:P375] | ||
101961 | M | 212237![]() |
2 | Sudanese | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.1(A.II.1)] |
101962 | M | 212237![]() |
2 | Sudanese | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.2(A.II.2)] |
101974 | F | 214053![]() |
- | Turkish | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.3(D.II.2)] |
101975 | F | 214053![]() |
- | Turkish | Asthma | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
101987 | F | 214115 | - | Allergy | PMID:34390440 [NEG094] | ||
101999 | F | 214143 | - | Moroccan | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES38] |
102005 | F | 214160 | - | Moroccan | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES39] |
102052 | M | 214264 | - | Asthma | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES37] | |
102090 | M | 214309 | - | Allergy | Immunodeficiency 58 | PMID:34390440 [HIES29] | |
102120 | M | 214344 | - | Egyptian | Allergy | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES21] |
102121 | M | 214345 | - | Egyptian | Asthma | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES16] |
102124 | F | 214351![]() |
1 | Sudanese | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.5(B.II.4)] |
102129 | F | 214351![]() |
1 | Sudanese | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.1(B.II.1)] |
102131 | F | 214351![]() |
- | Sudanese | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.7(B.II.6)] |
102133 | M | 214352![]() |
- | Sudanese | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.1(C.II.1)] |
102134 | M | 214352![]() |
- | Sudanese | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.6(C.II.6)] |
102170 | M | 214849 | - | South Korean | Asthma | Atopic dermatitis 2 | Ichthyosis vulgaris | PMID:25997159 [AD48]; PMID:25997159 [AD48] |
102222 | M | 214917 | - | German | Allergy | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102229 | F | 214922![]() |
- | Atopic dermatitis | ARPC1B deficiency | PMID:32499645 [Fam.ARPC1B:II.1] | |
102250 | M | 214924![]() |
1 | Afghanistani | Asthma | ARPC1B deficiency | PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7] |
102260 | F | 214926![]() |
- | Mexican | Atopic dermatitis | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
102421 | M | 214949![]() |
- | French | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.1(P3)] |
102423 | M | 214949![]() |
- | French/Greek | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:I.2(P1)] |
102425 | M | 214949![]() |
0 | French | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:II.2(P2)] |
102426 | F | 214949![]() |
- | French | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.2(P4)] |
102427 | M | 214950![]() |
4 | French | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.B:II.3(P5)] |
102436 | F | 214956![]() |
- | Bulgarian | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:III.1(P7)] |
102439 | M | 214956![]() |
- | Bulgarian | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
102444 | M | 214957![]() |
- | Slovak | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
102449 | F | 214958![]() |
- | Mexican/Salvadoran | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
102453 | F | 214959![]() |
0 | Turkish | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.F:II.2(P10)] |
102460 | M | 214960![]() |
0 | European | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.G:II.1(P11)] |
102463 | M | 214961![]() |
0 | European | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.H:II.1(P12)] |
102466 | M | 214962![]() |
9 | Polish | Asthma | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
102474 | M | 214963![]() |
- | Admixed | Asthma | Hyper-IgE recurrent infection syndrome 4B | PMID:33771552 [Patient(II.1)] |
102719 | F | 214981![]() |
0 | Canadian | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:II.2(Patient)]; PMID:36546480 [Fam.1:II.2(II-2)] |
102729 | M | 214981![]() |
0 | Canadian | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)] |
102730 | M | 214981![]() |
0 | Canadian | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)] |
102735 | F | 214983![]() |
- | North American | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:32750333 [Patient(II.2)] |
102739 | F | 214984![]() |
0 | Japanese | Atopic dermatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:35046931 [Patient(II.1)] |
102769 | M | 214985![]() |
- | Moroccan | Allergy | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.A:II.2(P2)] |
102772 | M | 214985![]() |
- | Moroccan | Atopic dermatitis | PMID:29907691 [Fam.A:II.1(P1)] | |
102774 | F | 214985![]() |
- | Moroccan | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.A:II.4(P3)] |
102775 | F | 214986![]() |
- | Afro-Caribbean | Allergy | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.B:II.5(P4)] |
102782 | F | 214987![]() |
- | Iranian | Allergy | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.C:II.2(P5)] |
102786 | F | 214988![]() |
- | Turkish | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
102792 | M | 214989![]() |
- | Turkish | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.E:II.1(P7)] |
102796 | M | 214990![]() |
- | Lebanese | Allergy | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.F:II.5(P8)] |
102803 | F | 214991![]() |
10 | North American | Asthma | Immunodeficiency 8 | PMID:25073507 [P1(II.2)] |
102804 | M | 214991![]() |
7 | North American | Asthma | Immunodeficiency 8 | PMID:25073507 [Fam.P1:II.1(P2)] |
102865 | F | 214996![]() |
0 | Italian | Atopic dermatitis | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)] |
102915 | F | 215016 | - | Atopic dermatitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P4]; PMID:37419334 [P4(22)] | |
102921 | M | 215022 | - | Atopic dermatitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P10] | |
102922 | F | 215023 | - | Atopic dermatitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P11] | |
103007 | F | 215081![]() |
- | North American | Airborn particle hypersensitivity | PMID:23861857 [Fam.Patient:I.2] | |
103018 | M | 215085![]() |
0 | Japanese | Atopic dermatitis | Immunodeficiency 35 | PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient] |
103044 | M | 215094 | - | Swedish | Allergy | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.9:SW] |
103473 | F | 215134![]() |
0 | French | Atopic dermatitis | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
103485 | F | 215137![]() |
- | French | Atopic dermatitis | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103538 | F | 215155![]() |
0 | Mexican | Atopic dermatitis | ARPC1B deficiency | PMID:36708766 [Fam.B:II.2(P3)] |
103541 | M | 215155![]() |
0 | Mexican | Atopic dermatitis | ARPC1B deficiency | PMID:36708766 [Fam.B:II.1(P4)] |
103788 | M | 215242![]() |
1 | South Korean | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
103876 | F | 215265![]() |
2 | Finnish | Celiac disease | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P1] |
103877 | F | 215266![]() |
- | Finnish | Allergy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
103880 | F | 215269![]() |
- | Finnish | Asthma | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
104002 | F | 215323![]() |
- | Atopic dermatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
104005 | F | 215326![]() |
- | Atopic dermatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4] | |
104053 | M | 215329 | - | Asthma | Hyper-IgE recurrent infection syndrome 1 | PMID:19891924 [Patient] | |
104158 | M | 215393![]() |
- | Australian | Asthma | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
104268 | M | 215444![]() |
- | Ashkenazi Jewish | Celiac disease | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
104352 | F | 215491 | - | Caucasian | Asthma | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H2] |
104386 | M | 215518![]() |
- | Ivorian | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:37080116 [P19(II.1)] |
104389 | M | 215519![]() |
- | Algerian | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 3 | PMID:37080116 [P20(II.1)] |
104392 | F | 215520![]() |
- | French | Asthma | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104403 | M | 215524![]() |
0 | Asian | Asthma | Early-onset atopic inflammation | PMID:36216080 [Index(III.1)] |
104406 | M | 215524![]() |
- | Asian | Atopic dermatitis | Early-onset atopic inflammation | PMID:36216080 [Fam.Index:II.1(father)] |
104409 | F | 215524![]() |
0 | Asian | Atopic dermatitis | Early-onset atopic inflammation | PMID:36216080 [Fam.Index:III.3(sister2)] |
104410 | M | 215525![]() |
- | Japanese | Asthma | Early-onset atopic inflammation | PMID:36538978 [Patient(II.2)] |
104414 | M | 215526![]() |
0 | Turkish | Atopic dermatitis | Early-onset atopic inflammation | PMID:36758835 [Patient(V.3)] |
104438 | F | 215527![]() |
- | Middle Eastern | Allergy | Early-onset atopic inflammation | PMID:36884218 [Fam.A:II.1(P1)] |
104444 | F | 215528![]() |
0 | Spanish | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.B:II.2(P2)] |
104449 | M | 215529![]() |
0 | Middle Eastern | Atopic dermatitis | Early-onset atopic inflammation | PMID:36884218 [Fam.C:II.1(P4)] |
104450 | F | 215529![]() |
6 | Middle Eastern | Atopic dermatitis | Early-onset atopic inflammation | PMID:36884218 [Fam.C:I.1(P3)] |
104453 | F | 215530![]() |
1 | European | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
104458 | M | 215531![]() |
0 | East Asian | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.E:II.1(P6)] |
104461 | M | 215532![]() |
0 | European | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.F:II.1(P8)]; PMID:37316763 [Patient(II.1)] |
104462 | F | 215532![]() |
5 | European | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.F:I.1(P7)]; PMID:37316763 [Fam.Patient:I.2(mother)] |
104464 | M | 215532![]() |
3 | European | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.F:II.2(P9)]; PMID:37316763 [Fam.Patient:II.2(brother)] |
104465 | M | 215533![]() |
- | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.G:II.1(P10)] | |
104473 | M | 215534![]() |
1 | South Asian | Atopic dermatitis | Early-onset atopic inflammation | PMID:36884218 [Fam.H:II.1(P11)] |
104477 | M | 215535![]() |
0 | SouthEast Asian | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.I:II.2(P12)] |
104481 | M | 215536![]() |
- | Caucasian | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.2(P14)] |
104488 | F | 215536![]() |
1 | Caucasian | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.J:III.2(P13)] |
104491 | M | 215536![]() |
- | Caucasian | Anaphylactic shock | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.3(P15)] |
104492 | F | 215536![]() |
1 | Caucasian | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.4(P16)] |
104521 | F | 215538 | - | Gypsy | Asthma | ARPC1B deficiency | PMID:31379835 [P3] |
104671 | F | 215568![]() |
5 | Lebanese | Celiac disease | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104715 | M | 215572![]() |
0 | French | Atopic dermatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [V-1(V.1)] |
104733 | F | 215572![]() |
- | French | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:II.16] |
104739 | F | 215572![]() |
- | French | Atopic dermatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.4] |
104741 | M | 215572![]() |
- | French | Atopic dermatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.6] |
104748 | F | 215572![]() |
- | French | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.13] |
104771 | M | 215572![]() |
- | French | Atopic dermatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.5] |
104773 | F | 215572![]() |
- | French | Atopic dermatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.7] |
104775 | F | 215572![]() |
- | French | Atopic dermatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.9] |
104782 | M | 215572![]() |
- | French | Atopic dermatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:V.2] |
104796 | M | 215577![]() |
20 | Allergy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)] | |
104797 | M | 215577![]() |
- | Atopy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
104916 | M | 215613![]() |
- | Caucasian | Atopic dermatitis | 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)] |
104953 | F | 215622![]() |
- | Dutch | Celiac disease | 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)] |
104962 | F | 215622![]() |
- | Dutch | Asthma | 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)] |
105025 | F | 215626![]() |
- | French | Atopic dermatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8] |
105028 | F | 215627 | - | French | Asthma | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10] |
105088 | M | 215638 | - | Japanese | Atopic dermatitis | 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] |
105131 | M | 215648 | - | Italian | Celiac disease | NFKB1 insufficiency | PMID:32278790 [BG.I.1]; PMID:29403474 [Patient 1 (6)]; PMID:27923702 [Patient 1]; PMID:27555455 [Patient 1]; PMID:150198 [Fam.AN:160] |
105142 | M | 210314![]() |
- | German | Atopic dermatitis | 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 | Allergy | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
105176 | F | 215661 | - | Caucasian | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)] |
105177 | M | 215661 | - | Caucasian | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [L.II.2]; PMID:29729943 [Fam.L:II.2(L.II.2 (36))]; PMID:27102614 [Fam.C:II.2(4)] |
105179 | F | 215661 | - | Caucasian | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)] |
105221 | M | 215666![]() |
1 | Finnish | Allergy | NFKB1 insufficiency | PMID:32278790 [Fam.F1:IV.2(IV.2)]; PMID:28115215 [Fam.1:IV.1(F1.IV-1)]; PMID:150198 [Fam.AQ:IV.1(183)]; PMID:36356849 [Fam.6:IV.1(F6:IV:1)]; PMID:36105815 [Fam.H67R:IV.1(H67R/8)] |
105225 | F | 215671![]() |
31 | Finnish | Asthma | NFKB1 insufficiency | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
105231 | M | 215671![]() |
10 | Finnish | Asthma | 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)] |
105237 | M | 215672![]() |
66 | Finnish | Asthma | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.4(II.4)]; PMID:28115215 [Fam.3:II.4(F3.II-4)]; PMID:150198 [Fam.AS:II.7(202)]; PMID:36356849 [Fam.3:II.7(F3:II:7)]; PMID:36892687 [II:4(II.4)]; PMID:38593810 [Fam.1:II.7(F1.II-4)] |
105239 | F | 215672![]() |
42 | Finnish | Asthma | 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)] |
105247 | F | 215675 | 2 | Turkish | Celiac disease | Immunodeficiency, common variable, 8 | PMID:28956255 [P1(II.1)] |
105302 | M | 215686![]() |
- | European | Celiac disease | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)] |
105308 | F | 215687![]() |
- | European | Asthma | 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)] |
105316 | U | 215691 | - | European | Celiac disease | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
105317 | M | 215692![]() |
- | European | Asthma | 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)] |
105332 | U | 215694 | - | European | Celiac disease | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105353 | F | 215715 | - | Turkish | Celiac disease | Immunodeficiency, common variable, 8 | PMID:26686526 [P1] |
105363 | F | 215722 | - | Afro-American | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
105386 | F | 215737 | 2 | Celiac disease | Immunodeficiency, common variable, 8 | PMID:29183106 [Patient 8] | |
105433 | F | 215768![]() |
- | Danish | Atopy | NFKB1 insufficiency | PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y] |
105465 | M | 215772![]() |
- | Russian | Asthma | NFKB1 insufficiency | PMID:150198 [Fam.BS:II.1(319)]; PMID:31803180 [Fam.B:II.1(S3)] |
105466 | M | 215772![]() |
- | Russian | Asthma | NFKB1 insufficiency | PMID:150198 [Fam.BS:II.2(320)]; PMID:31803180 [Fam.B:II.2(S4)] |
105530 | F | 215790 | - | Atopic dermatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P8] | |
105581 | M | 215756 | - | Druze | Celiac disease | PMID:33013830 [Fam.Patient:II.1(old-bro)] | |
105659 | F | 215836 | - | Asthma | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
105671 | M | 215837![]() |
- | Spanish | Celiac disease | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
105694 | F | 215842![]() |
20 | German | Allergy | NFKB1 insufficiency | PMID:32278790 [Fam.Y:II.1(Y.II.1)]; PMID:150198 [Fam.CG:II.1(423)] |
105754 | F | 215857 | - | Asian | Celiac disease | NFKB1 insufficiency | PMID:32278790 [AZ.I.1]; PMID:150198 [Fam.CU:440] |
105758 | M | 215861 | - | Iranian | Celiac disease | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
105767 | M | 211008![]() |
- | Caucasian | Asthma | NFKB1 insufficiency | PMID:32278790 [Fam.BS:I.1(I.1)]; PMID:150198 [Fam.DD:I.1(455)]; PMID:36105815 [Fam.M216V:I.1(M216V/2)] |
105773 | M | 215866 | - | German | Celiac disease | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
105776 | M | 215869 | - | Iranian | Celiac disease | NFKB1 insufficiency | PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1] |
105799 | M | 215881![]() |
0 | Pakistani | Atopic dermatitis | Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
105903 | F | 215903![]() |
- | Caucasian | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.2(young-sister)] |
105910 | F | 215905 | - | Caucasian | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))] |
105911 | F | 215906![]() |
- | French | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:III.1(P2)] |
105915 | M | 215906![]() |
6 | French | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:II.2(P1)] |
105918 | F | 215908![]() |
30 | Moroccan | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:I.1(P3)] |
105921 | F | 215908![]() |
- | Moroccan | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.2(P5)] |
105924 | F | 215908![]() |
- | Moroccan | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.5(P6)] |
105943 | M | 215912![]() |
- | Colombian/Swiss | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.C:II.1(P8)] |
105957 | M | 215914 | - | Caucasian | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105969 | M | 215916 | - | Japanese | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.U:I.1(U.I.I (49))]; PMID:30048690 [Fam.1:I.1(P1.1)]; PMID:35087518 [Fam.13:I.1(13.1)] |
105976 | M | 215918 | - | Japanese | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:35087518 [Fam.15:II.1(15.2)] |
105977 | F | 215918 | - | Japanese | Atopic dermatitis | 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)] |
105978 | F | 215918 | - | Japanese | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.3(W.II.3 (57))]; PMID:30048690 [Fam.2:II.3(P2.3)]; PMID:35087518 [Fam.15:II.3(15.4)] |
106023 | M | 215923 | - | Japanese | Asthma | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AA:IV.1(AA.IV.1 (69))]; PMID:30048690 [Fam.4:IV.1(P4.2)]; PMID:35087518 [Fam.16:IV.1(16.2)] |
106034 | M | 215923 | - | Japanese | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AA:III.3(AA.III.3 (68))]; PMID:30048690 [Fam.4:III.3(P4.1)]; PMID:35087518 [Fam.16:III.3(16.1)] |
106036 | F | 215924 | - | Japanese | Atopic dermatitis | 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 | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106043 | F | 215928 | - | Afro-American | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.HH:II.1(HH.II.1 (82))] |
106069 | F | 215932 | - | Caucasian | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))] |
106099 | M | 210955 | - | Caucasian | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))] |
106164 | M | 215963 | - | Turkish | Celiac disease | Immunodeficiency, common variable, 8 | PMID:31432443 [P8] |
106165 | M | 215964 | - | Turkish | Celiac disease | Immunodeficiency, common variable, 8 | PMID:31432443 [P9] |
106264 | M | 215977 | - | Caucasian | Asthma | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.11(UU.IV.10 (119))]; PMID:29305966 [Fam.IV.2:IV.5(IV.11)] |
106268 | M | 215977 | - | Caucasian | Celiac disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.10(UU.IV.9 (118))]; PMID:29305966 [Fam.IV.2:IV.6(IV.10)] |
106279 | M | 215977 | - | Caucasian | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.IV.2:V.1(V.1)] |
106402 | F | 216006![]() |
14 | German | Celiac disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [Fam.III.3:III.2] |
106415 | F | 216011![]() |
- | Indian | Atopy | Hyper-IgE recurrent infection syndrome 4A | PMID:38578568 [Fam.1:I.2(mother)] |
106594 | F | 216085 | 38 | Celiac disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:I.2(mother)] | |
106595 | F | 216086 | 10 | Celiac disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.B:P2] | |
106596 | F | 216087![]() |
- | French | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:I.2(P1)] |
106599 | M | 216087![]() |
- | French | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.1(P2)] |
106600 | M | 216087![]() |
- | French | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.2(P3)] |
106604 | M | 216088![]() |
- | Afro-American | Atopic dermatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.2:II.4(P7)] |
106622 | M | 216091![]() |
- | Ashkenazi Jewish | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.4:II.1(P11)] |
106625 | F | 216092![]() |
- | Admixed | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.5:II.2(P13)] |
106630 | M | 216093![]() |
- | Ashkenazi Jewish | Atopic dermatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.6:II.1(P16)] |
106683 | M | 216107 | - | German | Asthma | NFKB1 insufficiency | PMID:150198 [Fam.EW:607]; PMID:36105815 [N103D] |
106700 | F | 216113 | - | Japanese | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.22:22.1]; PMID:34707038 [Patient(II.1)] |
106793 | F | 216144 | - | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:34619682 [P.246] | |
106807 | F | 216145![]() |
- | German | Allergy | Immunodeficiency, common variable, 14 | PMID:34619682 [P.159]; PMID:39059757 [Fam.1:II.1(P1)] |
106912 | F | 216186 | - | Asthma | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
107100 | M | 216334![]() |
- | Japanese | Atopic dermatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.5:II.1(P5.1)] |
107108 | F | 216337 | - | German | Atopic dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34619682 [P.165] |
107151 | M | 216364![]() |
4 | Turkish | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.A:II.1(Patient 1)] |
107156 | F | 216365![]() |
1 | Turkish | Atopic dermatitis | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.B:II.2(Patient 2)] |
107245 | M | 216394![]() |
2 | Caucasian | Celiac disease | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Fam.2:II.1(Pt#2)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).