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

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101020 F 210008tree icon - 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 210182tree icon - 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 210724tree icon - Caucasian Autoimmune cytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15]
101043 M 210725tree icon - Caucasian Type I diabetes mellitus CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017]
101044 F 210725tree icon - Caucasian Type I diabetes mellitus CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.H:I.2(28)]
101045 M 210205tree icon - 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 211470tree icon -,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 210205tree icon 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 210205tree icon 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 210656tree icon - 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 210220tree icon - 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 210314tree icon - 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 210401tree icon - 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 210220tree icon - 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 210261tree icon - 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 210908tree icon - 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 210950tree icon 14 Swiss Myositis Adenosine deaminase 2 deficiency PMID:28493328 [P7(II.1)]
101789 M 210950tree icon 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 215769tree icon - 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 211221tree icon - 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 214393tree icon - 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 214973tree icon 19 European Type I diabetes mellitus Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.5:II.2(P5)]
102719 F 214981tree icon - 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 214981tree icon 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 214981tree icon 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 214982tree icon - Colombian Vitiligo Immunodeficiency 99 PMID:32484799 [Patient(II.2)]
102984 F 215074tree icon 17 European/American Autoimmune cytopenia Immunodeficiency 97 PMID:31554793 [A.1(II.1)]
103448 F 215129tree icon 6 Saudi Type I diabetes mellitus infantile-onset multisystem autoimmune disease-3 PMID:36006710 [Fam.1:II.2(P1)]
103454 M 215130tree icon 5 Saudi Type I diabetes mellitus infantile-onset multisystem autoimmune disease-3 PMID:36006710 [Fam.2:II.2(P2)]
103876 F 215265tree icon - Finnish Autoimmune thyroiditis Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P1]
103877 F 215266tree icon - 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 215268tree icon - Finnish Autoimmune enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P4]
103880 F 215269tree icon 1 Finnish Autoimmune enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)]
103997 M 215318tree icon - Autoimmune hepatitis Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P1]; PMID:30092289 [P16]
103999 M 215320tree icon - Type I diabetes mellitus Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P3]
104001 F 215322tree icon - 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 215323tree icon - Type I diabetes mellitus Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P6]
104237 M 215421tree icon - 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 215444tree icon - Ashkenazi Jewish Autoimmune enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28153428 [Patient(II.2)]
104535 M 215547tree icon 18 Reunionese Systemic lupus erythematosus X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.D:II.1(Patient D1)]
104538 M 215547tree icon 16 Reunionese Systemic lupus erythematosus X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.D:II.2(Patient D2)]
104630 M 215560tree icon - Myositis X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.C:II.2(P3)]
104671 F 215568tree icon - Lebanese Autoimmune hepatitis Severe early onset systemic inflammation and autoimmunity PMID:37349293 [Fam.1:II.1(P1)]
104773 F 215572tree icon - French Rheumatoid arthritis Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:IV.7]
104842 M 215579tree icon - 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 215579tree icon - 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 215579tree icon - 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 215613tree icon - 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 215613tree icon - 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 215622tree icon - 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 215622tree icon 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 215622tree icon 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 215622tree icon - 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 215626tree icon - 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 215632tree icon 1 Autoimmune thyroiditis Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28253502 [Fam.1:II.1(Patient 1)]
105057 F 215635tree icon 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 215639tree icon - 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 215643tree icon - 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 215647tree icon - 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 210314tree icon - 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 215654tree icon 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 215666tree icon -,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 215671tree icon 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 215671tree icon - 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 215672tree icon - 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 215674tree icon - 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 215674tree icon - 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 210008tree icon - 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 215685tree icon - 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 215685tree icon - 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 215686tree icon - 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 215687tree icon - 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 215688tree icon 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 215693tree icon - 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 215762tree icon - 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 215766tree icon - 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 215766tree icon - 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 215770tree icon - 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 215771tree icon - 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 215772tree icon 34 Russian Autoimmune thyroiditis NFKB1 insufficiency PMID:150198 [Fam.BS:II.1(319)]; PMID:31803180 [Fam.B:II.1(S3)]
105481 M 215777tree icon - Haitian/Hispanic Autoimmune cytopenia Activated p110-delta syndrome 1 PMID:24165795 [Fam.A:II.1(A.1)]
105513 F 215787tree icon - 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 215807tree icon 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 215834tree icon - 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 210401tree icon - German Autoimmunity PMID:150198 [Fam.BW:I.2(349)]
105667 M 215672tree icon 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 215837tree icon - Spanish Autoimmunity NFKB1 insufficiency PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)]
105676 M 215838tree icon - Ecuadorian Autoimmune cytopenia NFKB1 insufficiency PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)]
105679 M 215839tree icon - Caucasian Autoimmune cytopenia NFKB1 insufficiency PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)]
105687 F 215840tree icon -,-,- 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 215841tree icon - Australian Autoimmune cytopenia NFKB1 insufficiency PMID:32278790 [Fam.W:I.1(W.I.1)]; PMID:150198 [Fam.CF:I.1(418)]
105693 F 215841tree icon 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 211370tree icon -,- Turkish Autoimmunity,Immune dysregulation PMID:32278790 [Fam.AJ:II.4(II.4)]; PMID:150198 [Fam.BZ:II.3(369)]
105714 M 211370tree icon - 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 215852tree icon - 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 215877tree icon 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 215900tree icon 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 215952tree icon - 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 215035tree icon -,- 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 215035tree icon -,- 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 215973tree icon - Taiwanese Systemic lupus erythematosus NFKB1 insufficiency PMID:150198 [Fam.FP:II.2(723)]; PMID:36586539 [SI124(II.2)]
106178 M 215974tree icon - 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 215975tree icon 49 Finnish Sjogren Syndrome NFKB1 insufficiency PMID:150198 [Fam.FM:III.2(693)]; PMID:36356849 [Fam.2:III.2(F2:III:2)]
106209 F 215975tree icon - Finnish Autoimmunity NFKB1 insufficiency PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)]
106216 F 215975tree icon - 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 216006tree icon - German Autoimmune thyroiditis CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [III.3(III.3)]
106398 F 216006tree icon - German Autoimmune thyroiditis PMID:36273440 [Fam.III.3:II.3]
106399 M 216006tree icon - German Autoimmune thyroiditis CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [Fam.III.3:II.4]
106402 F 216006tree icon - German Autoimmune thyroiditis CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [Fam.III.3:III.2]
106403 M 210197tree icon 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 216023tree icon 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 216078tree icon - Caucasian Autoimmune thyroiditis Adenosine deaminase 2 deficiency PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)]
106584 F 216082tree icon - 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 216089tree icon - 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 216089tree icon - 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 216089tree icon - 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 216089tree icon - 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 216092tree icon - Admixed Autoimmune hepatitis Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.5:II.2(P13)]
106633 M 216093tree icon - 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 215871tree icon - 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 216333tree icon 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).