Autoimmunity
Basic details
Preferred term: Autoimmunity
Alt. terms: Autoimmune condition | Autoimmune disease | Autoimmune disorder
HPO term: Autoimmunity
HPO code: HP:0002960
GenIA ID: 228
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: -
MESH: D015551
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
The occurrence of an immune reaction against the organism's own cells or tissues.
Hierarchical classification
TERM
Autoimmunity
CHILD terms
- Autoimmune cytopenia
- Autoimmune thyroiditis
- Autoimmune hepatitis
- Systemic lupus erythematosus
- Pemphigoid
- Autoimmune antibody positivity
- Autoimmune pancreatitis
- Myositis
- Type I diabetes mellitus
- Rheumatoid arthritis
- Vitiligo
- CSF autoimmune antibody positivity
- Autoimmune enteropathy
- Autoimmune myocarditis
- Autoimmune colitis
- Autoimmune encephalitis
- Sjogren Syndrome
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101020 | F | 210008![]() |
- | German | Autoimmune cytopenia | 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 | 28 | Autoimmune cytopenia | PMID:34975878 [Fam.F009:P009] | ||
101025 | M | 210937 | 59 | Autoimmune cytopenia | PMID:34975878 [Fam.F010:P010] | ||
101026 | M | 210215 | 20 | Autoimmune cytopenia | PMID:34975878 [Fam.F011:P011] | ||
101039 | F | 210182![]() |
- | Caucasian | Autoimmune thyroiditis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.3(B.III.3)]; PMID:29729943 [Fam.B:III.4(B.III.3 (18))] |
101040 | F | 210724![]() |
- | Caucasian | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
101043 | M | 210725![]() |
- | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101044 | F | 210725![]() |
- | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:I.2(28)] |
101045 | M | 210205![]() |
- | Caucasian | Autoimmune thyroiditis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.13(A.III.3)]; PMID:29729943 [Fam.A:III.3(9)]; PMID:34975878 [Fam.F018:III.2(P018)]; PMID:27418640 [P11(5)] |
101079 | M | 211310 | 10 | Type I diabetes mellitus | PMID:34975878 [Fam.F045:P045]; PMID:34390440 [NEG005] | ||
101090 | M | 211257 | 6 | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13] | |
101101 | M | 211414 | - | Autoimmunity | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.G:II.1] | |
101115 | F | 210778 | - | Caucasian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101119 | M | 210264 | - | Autoimmune thyroiditis | PMID:34975878 [Fam.F070:P070] | ||
101124 | F | 210216 | 15 | German | Autoimmune thyroiditis | PMID:34975878 [Fam.F075:P075] | |
101129 | F | 210906 | 34 | German | Systemic lupus erythematosus | PMID:34975878 [Fam.F078:P078] | |
101131 | F | 210337 | - | German | Autoimmune cytopenia | PMID:34975878 [Fam.F080:P080] | |
101132 | M | 210304 | - | German | Autoimmune cytopenia | PMID:34975878 [Fam.F081:P081] | |
101155 | M | 210235 | - | German | Autoimmune cytopenia | 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 | -,- | Autoimmune cytopenia,Autoimmunity | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F101:P101] | |
101165 | M | 211461 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F106:P106] | ||
101167 | M | 211470![]() |
-,50 | Autoimmune myocarditis,Autoimmunity | NFKB1 insufficiency | PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)] | |
101178 | M | 210542 | 17,17 | Autoimmune cytopenia,Autoimmunity | PMID:34975878 [Fam.F114:P114] | ||
101186 | F | 211471 | 61 | Autoimmune thyroiditis | PMID:34975878 [Fam.F118:P118] | ||
101199 | F | 211483 | - | German | Vitiligo | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101201 | F | 211487 | - | Autoimmunity | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:II.3(P123)]; PMID:30941118 [Fam.1404:II.3(Pt#22)] | |
101202 | F | 211487 | - | Autoimmune cytopenia | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:III.1(P124)]; PMID:30941118 [Fam.1404:III.1(Pt#23)] | |
101204 | M | 211492 | 55 | German | Vitiligo | PMID:34975878 [Fam.F126:P126] | |
101207 | F | 211502 | 63 | Rheumatoid arthritis | PMID:34975878 [Fam.F130:P130] | ||
101228 | M | 210205![]() |
58 | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.3(A.II.2)]; PMID:29729943 [Fam.A:II.3(A.II.2 (2))] |
101260 | M | 212144 | - | Iranian | Autoimmune enteropathy | 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 | 12 | Iranian | Autoimmune thyroiditis | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16] |
101295 | M | 212146 | 3 | Saudi | Autoimmune cytopenia | Immunodeficiency, common variable, 8 | PMID:22721650 [VI:5(VI.5)]; PMID:26707784 [P6] |
101303 | F | 212147 | 6 | Turkish | Autoimmune thyroiditis | Immunodeficiency, common variable, 8 | PMID:25479458 [Index(II.1)]; PMID:26707784 [P14] |
101309 | M | 212148 | 0 | Saudi | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.A:II.3(P1)]; PMID:26707784 [P15] |
101375 | F | 212162 | 8 | Iranian | Autoimmune thyroiditis | 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] |
101398 | F | 212167 | - | Egyptian | Vitiligo | Immunodeficiency, common variable, 8 | PMID:27683652 [Fam.P1:II.4(P2)] |
101402 | M | 210690 | - | German | Vitiligo | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F138:P138] |
101416 | M | 212169 | 7 | Turkish | Autoimmune thyroiditis | Immunodeficiency, common variable, 8 | PMID:27146671 [Patient(II.1)] |
101425 | M | 210205![]() |
49 | Caucasian | Autoimmune thyroiditis | 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)] |
101442 | F | 210471 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F144:P144] | ||
101444 | F | 210640 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F145:P145] | ||
101446 | M | 212176 | - | North American | Vitiligo | Immunodeficiency, common variable, 8 | PMID:26206937 [P9] |
101452 | M | 212394 | - | Iranian | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33] |
101458 | F | 210656![]() |
- | Georgian | Autoimmune cytopenia | 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 | Autoimmune cytopenia | 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 | Autoimmune cytopenia | 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)] |
101471 | M | 212398 | - | Spanish | Vitiligo | PMID:30386343 [Fam.Patient:I.1(Father)] | |
101473 | F | 212398 | 1 | Spanish | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:30386343 [Patient(II.1)] |
101476 | F | 210512 | 40 | Type I diabetes mellitus | PMID:34975878 [Fam.F158:P158] | ||
101478 | F | 210353 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F159:P159] | ||
101479 | F | 210314![]() |
- | German | Autoimmune cytopenia | 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)] |
101482 | M | 210462 | 23 | German | Autoimmune cytopenia | PMID:34975878 [Fam.F161:P161] | |
101488 | M | 210401![]() |
- | German | Rheumatoid arthritis | 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 | 16 | Autoimmune thyroiditis | PMID:34975878 [Fam.F164:P164] | ||
101535 | M | 210775 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F177:P177] | ||
101553 | M | 210256 | - | German | Vitiligo | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
101564 | M | 210361 | - | German | Autoimmune cytopenia | PMID:34975878 [Fam.F187:P187] | |
101569 | F | 210220![]() |
- | German | Autoimmune cytopenia | 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] |
101624 | M | 210946 | 49 | Vitiligo | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F215:P215] | |
101628 | F | 210955 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:I.2(128)]; PMID:34975878 [Fam.F217:P217] |
101644 | F | 210918 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F224:P224] | ||
101648 | M | 211026 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F225:P225] | ||
101663 | M | 211078 | - | Autoimmunity | PMID:34975878 [Fam.F231:P231] | ||
101708 | F | 211547 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F246:P246] | ||
101719 | F | 210022 | - | Iranian | Autoimmune enteropathy | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.1(P4)]; PMID:25539626 [Fam.P1:II.2(P2)]; PMID:26707784 [P13] |
101722 | F | 210261![]() |
- | Asian | Autoimmune thyroiditis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.D:II.1(D.II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)] |
101753 | M | 210024 | - | Japanese | Immune dysregulation | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
101754 | M | 210024 | -,- | Japanese | Autoimmune hepatitis,Immune dysregulation | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.2(P11)] |
101755 | M | 210025 | - | North American | Autoimmune hepatitis | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
101756 | F | 210025 | 2 | North American | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)] |
101763 | M | 210030 | 6 | North American | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.629:P18]; PMID:26206937 [P8] |
101764 | F | 210031 | - | Dutch | Immune dysregulation | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
101775 | M | 210908![]() |
- | Argentinian | Autoimmunity | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101777 | F | 210920 | 2 | Libyan | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:26745254 [P1(II.1)] |
101778 | M | 210920 | - | Libyan | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:26745254 [Fam.P1:II.3(P2)] |
101788 | M | 210950![]() |
14 | Swiss | Myositis | Adenosine deaminase 2 deficiency | PMID:28493328 [P7(II.1)] |
101789 | M | 210950![]() |
12 | Swiss | Myositis | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P7:II.2(P8)] |
101797 | M | 211108 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
101800 | M | 215769![]() |
- | Caucasian | Autoimmune cytopenia | 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 | -,- | Autoimmunity,Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
101802 | F | 211221![]() |
- | German | Vitiligo | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
101813 | F | 211525 | 38 | Type I diabetes mellitus | PMID:34975878 [Fam.F273:P273] | ||
101816 | M | 211529 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F276:P276] | ||
101821 | F | 210122 | - | Autoimmunity | PMID:34390440 [NEG027] | ||
101827 | M | 211564 | 1 | Type I diabetes mellitus | PMID:34975878 [Fam.F291:P291] | ||
101833 | M | 210887 | - | Autoimmunity | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
101840 | F | 211591 | - | Autoimmunity | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
101848 | F | 211633 | - | Autoimmunity | PMID:34975878 [Fam.F309:P309] | ||
101860 | U | 210053 | - | Autoimmune hepatitis | Immunodeficiency 31C | PMID:34390440 [CMC16] | |
101877 | M | 211741 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F321:P321] | ||
101878 | F | 211747 | - | Autoimmunity | PMID:34975878 [Fam.F323:P323] | ||
101893 | F | 211767 | 40 | Autoimmune thyroiditis | PMID:34975878 [Fam.F326:P326] | ||
101897 | F | 211768 | 30 | Type I diabetes mellitus | PMID:34975878 [Fam.F328:P328] | ||
101932 | F | 210102 | - | Autoimmunity | Immunodeficiency 31C | PMID:34390440 [CMC11] | |
101946 | F | 211943 | - | Autoimmune thyroiditis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F406:P406] | |
101951 | M | 212062 | -,- | Autoimmune cytopenia,Autoimmunity | PMID:34975878 [Fam.F375:P375] | ||
102142 | M | 214393![]() |
- | North American | Type I diabetes mellitus | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:III.2(B)]; PMID:37876937 [Fam.A:III.2(A.2)] |
102143 | M | 214416 | - | Slovenian | Rheumatoid arthritis | Immunodeficiency, common variable, 8 | PMID:28720148 [Patient] |
102222 | M | 214917 | 28,- | German | Autoimmune cytopenia,Autoimmunity | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102641 | M | 214973![]() |
19 | European | Type I diabetes mellitus | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.5:II.2(P5)] |
102719 | F | 214981![]() |
- | Canadian | Autoimmune thyroiditis | 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 | Autoimmune thyroiditis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)] |
102730 | M | 214981![]() |
0 | Canadian | Autoimmune thyroiditis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)] |
102731 | F | 214982![]() |
- | Colombian | Vitiligo | Immunodeficiency 99 | PMID:32484799 [Patient(II.2)] |
102984 | F | 215074![]() |
17 | European/American | Autoimmune cytopenia | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
103448 | F | 215129![]() |
6 | Saudi | Type I diabetes mellitus | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.1:II.2(P1)] |
103454 | M | 215130![]() |
5 | Saudi | Type I diabetes mellitus | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.2:II.2(P2)] |
103876 | F | 215265![]() |
- | Finnish | Autoimmune thyroiditis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P1] |
103877 | F | 215266![]() |
- | Finnish | Autoimmune cytopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
103879 | M | 215268![]() |
- | Finnish | Autoimmune enteropathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P4] |
103880 | F | 215269![]() |
1 | Finnish | Autoimmune enteropathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
103997 | M | 215318![]() |
- | Autoimmune hepatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
103999 | M | 215320![]() |
- | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P3] | |
104001 | F | 215322![]() |
- | North American | Autoimmune hepatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1] |
104002 | F | 215323![]() |
- | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
104237 | M | 215421![]() |
- | European/American | Autoimmune antibody positivity | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [ref.8]; PMID:36932076 [P1(II.3)]; GRID:000818 [Patient]; GRID:000819 [pt.1] |
104268 | M | 215444![]() |
- | Ashkenazi Jewish | Autoimmune enteropathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
104535 | M | 215547![]() |
18 | Reunionese | Systemic lupus erythematosus | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.D:II.1(Patient D1)] |
104538 | M | 215547![]() |
16 | Reunionese | Systemic lupus erythematosus | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.D:II.2(Patient D2)] |
104630 | M | 215560![]() |
- | Myositis | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.C:II.2(P3)] | |
104671 | F | 215568![]() |
- | Lebanese | Autoimmune hepatitis | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104773 | F | 215572![]() |
- | French | Rheumatoid arthritis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.7] |
104842 | M | 215579![]() |
- | European | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.1(II.1)]; PMID:26279205 [Fam.NZ:II.1(II1)]; PMID:29403474 [Fam.NZ (5):II.1(II1)]; PMID:29806948 [Fam.NZ:II.1(II.1)]; PMID:30323807 [Fam.2:II.1(II.1)]; PMID:150198 [Fam.AC:II.1(108)] |
104844 | F | 215579![]() |
- | European | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:I.2(I.2)]; PMID:26279205 [Fam.NZ:I.2(I2)]; PMID:29403474 [Fam.NZ (5):I.2(I2)]; PMID:29806948 [Fam.NZ:I.2(I.2)]; PMID:30323807 [Fam.2:I.2(I.2)]; PMID:150198 [Fam.AC:I.2(107)] |
104845 | F | 215579![]() |
- | European | Autoimmune cytopenia | 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)] |
104886 | F | 215613![]() |
- | Caucasian | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104916 | M | 215613![]() |
- | Caucasian | Type I diabetes mellitus | 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)] |
104932 | F | 215622![]() |
- | Dutch | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.16(II.16)]; PMID:26279205 [Fam.NL1:II.20(18)]; PMID:29403474 [Fam.NL1 (5):II.20(18)]; PMID:11583829 [Fam.1:II.19(II:19)]; PMID:16639407 [Fam.1:II.20(18)]; PMID:150198 [Fam.AA:II.20(022)] |
104942 | F | 215622![]() |
58 | Dutch | Autoimmune cytopenia | 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)] |
104970 | M | 215622![]() |
44 | Dutch | Autoimmune thyroiditis | 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)] |
104987 | F | 215622![]() |
- | Dutch | Autoimmune thyroiditis | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.6(IV.6)]; PMID:26279205 [Fam.NL1:IV.6(48)]; PMID:29403474 [Fam.NL1 (5):IV.6(48)]; PMID:11583829 [Fam.1:IV.5(IV:5)]; PMID:16639407 [Fam.1:IV.5(48)]; PMID:150198 [Fam.AA:IV.6(062)] |
105025 | F | 215626![]() |
- | French | Autoimmunity | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8] |
105028 | F | 215627 | - | French | Autoimmune enteropathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10] |
105046 | M | 215632![]() |
1 | Autoimmune thyroiditis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Fam.1:II.1(Patient 1)] | |
105057 | F | 215635![]() |
26 | German | Autoimmunity | 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)] |
105088 | M | 215638 | - | Japanese | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1] |
105093 | F | 215639![]() |
- | Israeli | Autoimmune cytopenia | 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)] |
105103 | F | 215641 | 4 | South Korean | Autoimmune hepatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26478010 [III.2(III.2)] |
105105 | F | 215643![]() |
- | Caucasian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)] |
105110 | M | 215644 | - | Autoimmune thyroiditis | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
105111 | F | 215645 | - | Autoimmune cytopenia | NFKB1 insufficiency | PMID:27379089 [P4]; PMID:32278790 [AR.I.4]; PMID:29403474 [Patient 4 (10)]; PMID:150198 [Fam.AI:146] | |
105129 | M | 215647![]() |
- | Autoimmune cytopenia | 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)] | |
105131 | M | 215648 | - | Italian | Autoimmune thyroiditis | 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 | Autoimmune cytopenia | 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 | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
105149 | M | 215654![]() |
21,21 | Chinese (China) | Autoimmune antibody positivity,Autoimmunity | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
105172 | M | 215659 | - | Caucasian | Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)] |
105173 | M | 215659 | -,- | Autoimmunity,Immune dysregulation | PMID:27102614 [Fam.A:I.1(father)] | ||
105176 | F | 215661 | 4 | Caucasian | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)] |
105179 | F | 215661 | - | Caucasian | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)] |
105180 | M | 215662 | - | Caucasian | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105183 | M | 215662 | - | Autoimmune enteropathy | PMID:27102614 [Fam.D:II.2(brother)] | ||
105184 | F | 215662 | - | Autoimmune thyroiditis | PMID:27102614 [Fam.D:II.3(sister)] | ||
105185 | M | 215663 | 7 | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7] | |
105188 | M | 215663 | - | Autoimmune thyroiditis | PMID:27102614 [Fam.E:II.1(father)] | ||
105189 | F | 215663 | - | Autoimmune thyroiditis | PMID:27102614 [Fam.E:II.2(mother)] | ||
105190 | F | 215664 | 1 | Caucasian | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.F:II.1(7)] |
105214 | F | 215666![]() |
-,45 | Finnish | Autoimmune thyroiditis,Autoimmunity | 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)] |
105225 | F | 215671![]() |
56 | Finnish | Autoimmune thyroiditis | NFKB1 insufficiency | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
105231 | M | 215671![]() |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)] |
105239 | F | 215672![]() |
- | Finnish | Autoimmunity | 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)] |
105245 | M | 215674![]() |
- | Caucasian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.AN:II.2(II.1)]; PMID:29403474 [Fam.(12):I.1(P9.1)]; PMID:28983403 [Fam.1:I.1(P9.1)]; PMID:150198 [Fam.AT:II.1(223)] |
105246 | M | 215674![]() |
- | Caucasian | Autoimmune cytopenia | 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)] |
105247 | F | 215675 | 6 | Turkish | Autoimmune thyroiditis | Immunodeficiency, common variable, 8 | PMID:28956255 [P1(II.1)] |
105256 | F | 210008![]() |
- | German | Autoimmune cytopenia | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105272 | M | 215681 | -,- | Saudi | Autoimmune thyroiditis,Autoimmunity | Immunodeficiency, common variable, 8 | PMID:28134088 [P1(II.1)] |
105273 | F | 215682 | -,- | North American | Autoimmune thyroiditis,Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | GRID:000111 [Patient(I.1)] |
105279 | F | 215685![]() |
- | European | Autoimmune thyroiditis | NFKB1 insufficiency | PMID:32278790 [Fam.B:II.1(II.1)]; PMID:29477724 [Fam.B:II.1(II:1)]; PMID:150198 [Fam.AV:II.1(244)] |
105280 | M | 215685![]() |
- | European | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.B:I.1(I.1)]; PMID:29477724 [Fam.B:I.1(I:1)]; PMID:150198 [Fam.AV:I.1(242)] |
105301 | M | 215686![]() |
- | European | Type I diabetes mellitus | 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)] |
105308 | F | 215687![]() |
- | European | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)] |
105313 | M | 215688![]() |
7,- | European | Autoimmune cytopenia,Autoimmunity | 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 | Autoimmune thyroiditis | 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 | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
105328 | F | 215693![]() |
- | European | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.L:II.1(II.1)]; PMID:29477724 [Fam.L:II.1(II:1)]; PMID:150198 [Fam.BF:II.1(283)] |
105332 | U | 215694 | - | European | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105333 | F | 215695 | - | European | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [N.II.1]; PMID:29477724 [Fam.N:II.1(II:1)]; PMID:150198 [Fam.BH:286] |
105335 | U | 215697 | - | European | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
105337 | U | 215699 | - | European | Autoimmune cytopenia | 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 | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
105350 | M | 215712 | 1 | Omani | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28690850 [P1] |
105351 | M | 215713 | 6,- | Saudi | Autoimmunity,Vitiligo | Immunodeficiency, common variable, 8 | PMID:28831385 [PD] |
105355 | M | 215717 | -,- | Caucasian | Autoimmunity,Vitiligo | Immunodeficiency, common variable, 8 | PMID:28197149 [P1(II.1)] |
105363 | F | 215722 | - | Afro-American | Autoimmune cytopenia | 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 | 6 | Autoimmune thyroiditis | Immunodeficiency, common variable, 8 | PMID:29183106 [Patient 8] | |
105388 | M | 215739 | - | Immune dysregulation | Immunodeficiency, common variable, 8 | PMID:31238161 [Fam.F1:P1] | |
105398 | F | 215749 | 2 | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
105412 | F | 215762![]() |
- | Caucasian | Autoimmune cytopenia | 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)] |
105424 | M | 215766![]() |
- | Admixed | Autoimmune cytopenia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.1(P8)]; PMID:25457153 [Fam.1:II.2(P1)]; PMID:25075846 [Fam.1:II.2(older-sib)] |
105428 | M | 215766![]() |
- | Admixed | Autoimmunity | 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)] |
105450 | F | 215770![]() |
- | Caucasian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [BI.I.1]; PMID:150198 [Fam.BU:II.1(337)]; PMID:31803180 [Fam.D:II.1(S7)]; PMID:34619682 [P.150] |
105458 | M | 215771![]() |
- | Caucasian | Autoimmune cytopenia | 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] |
105465 | M | 215772![]() |
34 | Russian | Autoimmune thyroiditis | NFKB1 insufficiency | PMID:150198 [Fam.BS:II.1(319)]; PMID:31803180 [Fam.B:II.1(S3)] |
105481 | M | 215777![]() |
- | Haitian/Hispanic | Autoimmune cytopenia | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.A:II.1(A.1)] |
105513 | F | 215787![]() |
- | Caucasian | Autoimmune cytopenia | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.F:II.1(F.II.1)] |
105529 | M | 215789 | - | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P7] | |
105533 | M | 215791 | 44 | Portuguese | Vitiligo | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105543 | M | 215797 | 30 | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P7] | |
105551 | F | 215801 | - | Caucasian | Vitiligo | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:III.2(mother)] |
105562 | M | 215805 | 4 | Turkish | Autoimmune thyroiditis | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
105563 | F | 215806 | 10 | Turkish | Autoimmune cytopenia | Immunodeficiency, common variable, 8 | PMID:31026575 [P2]; PMID:31432443 [P6(II.1)] |
105564 | M | 215807![]() |
3 | Spanish | Autoimmunity | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
105583 | M | 215817 | - | Autoimmune enteropathy | Immunodeficiency, common variable, 8 | PMID:33713070 [Case2] | |
105585 | F | 215818 | - | Autoimmune enteropathy | Immunodeficiency, common variable, 8 | PMID:33713070 [Case3] | |
105648 | M | 215833 | 1 | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:33845048 [Patient] | |
105649 | F | 215834![]() |
- | Spanish | Autoimmune cytopenia | NFKB1 insufficiency | PMID:29867916 [N234]; PMID:32278790 [Fam.AV:II.1(II.1)]; PMID:150198 [Fam.BL:II.1(294)] |
105651 | F | 210401![]() |
- | German | Autoimmunity | PMID:150198 [Fam.BW:I.2(349)] | |
105667 | M | 215672![]() |
8 | Finnish | Type I diabetes mellitus | NFKB1 insufficiency | PMID:32278790 [Fam.F3:III.3(III.3)]; PMID:150198 [Fam.AS:III.11(220)]; PMID:36356849 [Fam.3:III.11(F3:III:11)]; PMID:36892687 [III:3(III.3)]; PMID:38593810 [Fam.1:III.11(F1.III-11)] |
105671 | M | 215837![]() |
- | Spanish | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
105676 | M | 215838![]() |
- | Ecuadorian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)] |
105679 | M | 215839![]() |
- | Caucasian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
105687 | F | 215840![]() |
-,-,- | Caucasian | Autoimmune thyroiditis,Autoimmunity,Immune dysregulation | 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)] |
105691 | M | 215841![]() |
- | Australian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.W:I.1(W.I.1)]; PMID:150198 [Fam.CF:I.1(418)] |
105693 | F | 215841![]() |
16,-,16 | Australian | Autoimmune cytopenia,Autoimmunity,Immune dysregulation | NFKB1 insufficiency | PMID:32278790 [Fam.W:II.1(W.II.1)]; PMID:150198 [Fam.CF:II.1(420)] |
105701 | M | 211370![]() |
-,- | Turkish | Autoimmunity,Immune dysregulation | PMID:32278790 [Fam.AJ:II.4(II.4)]; PMID:150198 [Fam.BZ:II.3(369)] | |
105714 | M | 211370![]() |
- | Turkish | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.AJ:III.1(III.1)]; PMID:150198 [Fam.BZ:III.1(380)]; GRID:001142 [Fam.*:III.1(FR095)] |
105731 | F | 215843 | - | Russian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
105740 | U | 215845 | - | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
105742 | F | 215847 | - | Brasilian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428] |
105744 | M | 215849 | -,- | Autoimmune cytopenia,Autoimmunity | NFKB1 insufficiency | PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433] | |
105745 | M | 215850 | 3,-,3 | Autoimmune cytopenia,Autoimmunity,Immune dysregulation | NFKB1 insufficiency | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
105747 | F | 215852![]() |
- | Dutch | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)] |
105750 | M | 215853 | 16,- | North American | Autoimmune cytopenia,Autoimmunity | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
105752 | M | 215855 | - | Russian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438] |
105755 | F | 215858 | - | Russian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441] |
105756 | F | 215859 | -,13,13 | Portuguese | Autoimmune cytopenia,Autoimmunity,Immune dysregulation | NFKB1 insufficiency | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
105758 | M | 215861 | - | Iranian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
105774 | F | 215867 | - | German | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [BV.I.1]; PMID:150198 [Fam.DG:464]; PMID:36105815 [P246T] |
105780 | F | 215873 | - | German | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
105781 | F | 215874 | - | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [CE.I.1]; PMID:150198 [Fam.DP:476] | |
105782 | M | 215875 | - | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [CF.I.1]; PMID:150198 [Fam.DQ:477] | |
105791 | F | 215877![]() |
16 | Spanish | Type I diabetes mellitus | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:II.1(1.1)] |
105800 | M | 215882 | - | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S112] | |
105871 | M | 215895 | 0 | Immune dysregulation | NFKB1 insufficiency | PMID:33864888 [S024]; PMID:150198 [Fam.DU:517] | |
105899 | F | 215900![]() |
4 | North American | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.DW:II.1(538)]; PMID:34307247 [Fam.1:II.1(daughter1)]; PMID:28802957 [Fam.1:II.1(II.1)] |
105957 | M | 215914 | -,- | Caucasian | Autoimmune cytopenia,Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105972 | F | 215916 | 5 | Japanese | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.U:II.3(U.II.3 (52))]; PMID:30048690 [Fam.1:II.3(P1.4)]; PMID:35087518 [Fam.13:II.3(13.4)] |
105978 | F | 215918 | - | Japanese | Autoimmune hepatitis | 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)] |
105979 | M | 215919 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:I.1(Y.I.1 (60))] |
105981 | M | 215919 | - | Caucasian | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))] |
106041 | M | 215926 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106043 | F | 215928 | - | Afro-American | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.HH:II.1(HH.II.1 (82))] |
106047 | F | 215930 | 14 | Caucasian | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106060 | F | 210991 | - | Caucasian | Rheumatoid arthritis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))] |
106062 | M | 210991 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.13(NN.II.11 (94))] |
106068 | M | 215931 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
106077 | M | 215934 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))] |
106078 | M | 215934 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.5(TT.II.5 (104))] |
106109 | M | 215952![]() |
- | Iranian | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
106145 | M | 215954 | - | Slovak | Autoimmunity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P9]; PMID:37419334 [P9(27)] |
106153 | F | 215035![]() |
-,- | Caucasian | Autoimmunity,Type I diabetes mellitus | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:I.1(P17)]; PMID:37419334 [P17(22)] |
106155 | M | 215035![]() |
-,- | Caucasian | Autoimmunity,Type I diabetes mellitus | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:II.2(P16)]; PMID:37419334 [P16(27)] |
106158 | M | 215957 | - | Turkish | Autoimmune thyroiditis | Immunodeficiency, common variable, 8 | PMID:28956255 [P5(II.2)]; PMID:31432443 [P2(II.2)] |
106170 | F | 215969 | - | Turkish | Autoimmune thyroiditis | Immunodeficiency, common variable, 8 | PMID:31432443 [P14] |
106174 | F | 215973![]() |
- | Taiwanese | Systemic lupus erythematosus | NFKB1 insufficiency | PMID:150198 [Fam.FP:II.2(723)]; PMID:36586539 [SI124(II.2)] |
106178 | M | 215974![]() |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.FL:III.2(672)]; PMID:36356849 [Fam.1:III.2(F1:III:2)]; PMID:38593810 [Fam.2:II.2(F2.II-1)] |
106200 | F | 215975![]() |
49 | Finnish | Sjogren Syndrome | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.2(693)]; PMID:36356849 [Fam.2:III.2(F2:III:2)] |
106209 | F | 215975![]() |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
106216 | F | 215975![]() |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.2(701)]; PMID:36356849 [Fam.2:IV.2(F2:IV:2)] |
106259 | F | 215977 | - | Caucasian | Autoimmune thyroiditis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)] |
106326 | F | 215986 | - | Systemic lupus erythematosus | NFKB1 insufficiency | PMID:150198 [Fam.FE:623]; PMID:36105815 [Y405C] | |
106351 | F | 215997 | - | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.CZ:CZ.II.2] | |
106358 | M | 216000 | 26,26 | Immune dysregulation,Rheumatoid arthritis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31993940 [Patient(II.1)] | |
106371 | M | 216004 | - | Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)] | |
106373 | F | 216004 | - | Autoimmune thyroiditis | PMID:29375547 [Fam.A:I.14(A.I.2)] | ||
106390 | M | 216005 | 25 | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:32996901 [Patient(II.1)] | |
106393 | F | 216006![]() |
- | German | Autoimmune thyroiditis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106398 | F | 216006![]() |
- | German | Autoimmune thyroiditis | PMID:36273440 [Fam.III.3:II.3] | |
106399 | M | 216006![]() |
- | German | Autoimmune thyroiditis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [Fam.III.3:II.4] |
106402 | F | 216006![]() |
- | German | Autoimmune thyroiditis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [Fam.III.3:III.2] |
106403 | M | 210197![]() |
53 | Italian | Autoimmune thyroiditis | NFKB1 insufficiency | PMID:150198 [Fam.DZ:I.1(545)] |
106452 | M | 216017 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P1] |
106453 | M | 216018 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P2(II.1)] |
106464 | M | 216024 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P5] |
106466 | F | 216023![]() |
52 | Japanese | Rheumatoid arthritis | NFKB1 insufficiency | PMID:150198 [Fam.FX:I.2(776)]; PMID:38514645 [Fam.1:I.2(I:2)] |
106475 | M | 216028 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P10] |
106476 | M | 216029 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P11] |
106477 | M | 216030 | - | Egyptian | Autoimmune thyroiditis | Immunodeficiency, common variable, 8 | PMID:32506362 [P12] |
106479 | M | 216032 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P14(II.1)] |
106482 | F | 216035 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P17] |
106483 | F | 216036 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P18] |
106495 | F | 216045 | 2 | Autoimmune hepatitis | Immunodeficiency, common variable, 8 | PMID:33178652 [Patient] | |
106501 | M | 216047 | - | Caucasian | Autoimmune thyroiditis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31156616 [Fam.B:II.2(B.II.1)] |
106558 | M | 216078![]() |
- | Caucasian | Autoimmune thyroiditis | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)] |
106584 | F | 216082![]() |
- | Caucasian | Autoimmunity | PMID:26867732 [Fam.E:II.2] | |
106592 | M | 216085 | 15 | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
106594 | F | 216085 | -,- | Autoimmune thyroiditis,Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:I.2(mother)] | |
106610 | F | 216089![]() |
- | Australian | Autoimmune thyroiditis | 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)] |
106614 | M | 216089![]() |
- | Australian | Autoimmune cytopenia | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:II.3(II.3)]; PMID:29114388 [Fam.A:II.3(II.3)] |
106615 | M | 216089![]() |
- | Australian | Autoimmune cytopenia | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:II.4(II.4)]; PMID:29114388 [Fam.A:II.4(II.4)] |
106616 | M | 216089![]() |
- | Australian | Type I diabetes mellitus | Agammaglobulinemia 8A | PMID:30323807 [Fam.1:III.1(III.1)]; PMID:29114388 [Fam.A:III.1(III.1)] |
106625 | F | 216092![]() |
- | Admixed | Autoimmune hepatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.5:II.2(P13)] |
106633 | M | 216093![]() |
- | Ashkenazi Jewish | Type I diabetes mellitus | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.6:I.1(P15)] |
106642 | F | 216097 | 2 | European | Autoimmune hepatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31396201 [Fam.:II.1(P1)] |
106669 | M | 216103 | 25 | Type I diabetes mellitus | NFKB1 insufficiency | PMID:150198 [Fam.EE:565]; PMID:35281075 [5] | |
106675 | M | 216105 | -,15 | Egyptian | Autoimmune cytopenia,Immune dysregulation | NFKB1 insufficiency | PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158] |
106707 | M | 216114 | - | Japanese | Systemic lupus erythematosus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.21:II.2(21.3)] |
106712 | M | 215871![]() |
- | Spanish | Vitiligo | NFKB1 insufficiency | PMID:150198 [Fam.DM:I.1(470)]; PMID:36105815 [Fam.G386R:I.1(G386R/2)] |
106778 | M | 216129 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.149:159] |
106779 | F | 216130 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.150:160] |
106780 | F | 216131 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.151:161] |
106781 | F | 216132 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.152:162] |
106782 | M | 216133 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.153:163] |
106783 | F | 216134 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.154:164] |
106784 | F | 216135 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.155:165] |
106785 | M | 216136 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.156:166] |
106787 | M | 216138 | - | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.278] | |
106789 | M | 216140 | - | Autoimmune cytopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.282] | |
106867 | M | 216177 | - | Japanese | Myositis | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.2:II.1(P2)] |
106884 | F | 216181 | 12 | Japanese | Myositis | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.6:II.2(P8)] |
106912 | F | 216186 | 49,40 | Autoimmune cytopenia,Immune dysregulation | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
106957 | F | 216198 | - | Autoimmune hepatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P13] | |
106959 | M | 216200 | - | Autoimmune thyroiditis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P17]; PMID:35677041 [Pt9] | |
106961 | F | 216202 | - | Rheumatoid arthritis | T-cell LGL leukemia 1 | PMID:22591296 [P2] | |
106964 | M | 216205 | - | Rheumatoid arthritis | T-cell LGL leukemia 1 | PMID:22591296 [P5] | |
106968 | M | 216209 | - | Rheumatoid arthritis | T-cell LGL leukemia 1 | PMID:22591296 [P9] | |
106969 | M | 216210 | - | Rheumatoid arthritis | T-cell LGL leukemia 1 | PMID:22591296 [P10] | |
106977 | M | 216218 | - | Rheumatoid arthritis | T-cell LGL leukemia 1 | PMID:22591296 [P18] | |
106981 | F | 216222 | - | Rheumatoid arthritis | T-cell LGL leukemia 1 | PMID:22591296 [P22] | |
106982 | F | 216223 | - | Rheumatoid arthritis | T-cell LGL leukemia 1 | PMID:22591296 [P23] | |
106986 | M | 216227 | - | Rheumatoid arthritis | T-cell LGL leukemia 1 | PMID:22591296 [P27] | |
107096 | F | 216332 | - | Japanese | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
107097 | F | 216333![]() |
6 | Japanese | Autoimmune hepatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.4:P4.1] |
107212 | F | 216374 | - | Arab | Immune dysregulation | Combined immunodeficiency 37 | PMID:31775018 [Patient] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).