Autoimmune hemolytic anemia
Basic details
Preferred term: Autoimmune hemolytic anemia
Alt. terms: AIHA | Hemolytic anemia, autoimmune | Cold agglutinin hemoglobinuria | Autoimmune haemolytic anaemia | autoimmune cytopenia
HPO term: Autoimmune hemolytic anemia
HPO code: HP:0001890
GenIA ID: 27
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: C34378
MESH: D000744
EFO:1001264
OAE: -
SNOMEDCT: -
ICD10: D59.1
Description
An autoimmune form of hemolytic anemia: a premature or abnormal destruction of erythrocytes by the immune system due to autoantibodies. It is a type of autoimmune cytopenia. A positive coombs test may give the diagnosis.
Hierarchical classification
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | 14 | German | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3] |
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 | 28,28 | Autoimmune cytopenia,Autoimmune hemolytic anemia | PMID:34975878 [Fam.F009:P009] | ||
101025 | M | 210937 | 59 | Autoimmune cytopenia | PMID:34975878 [Fam.F010:P010] | ||
101026 | M | 210215 | 20,20 | Autoimmune cytopenia,Autoimmune hemolytic anemia | PMID:34975878 [Fam.F011:P011] | ||
101040 | F | 210724![]() |
19,- | Caucasian | Autoimmune cytopenia,Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
101043 | M | 210725![]() |
- | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101091 | M | 210911 | 26 | Autoimmune hemolytic anemia | DiGeorge syndrome | PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180] | |
101093 | M | 211289 | 29 | German | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
101115 | F | 210778 | 33,- | Caucasian | Autoimmune cytopenia,Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101122 | M | 210197![]() |
19 | Italian | Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
101123 | M | 210255 | 19 | Autoimmune hemolytic anemia | PMID:34975878 [Fam.F074:P074] | ||
101127 | F | 210318 | 39 | German | Autoimmune hemolytic anemia | PMID:34975878 [Fam.F077:P077] | |
101131 | F | 210337 | - | German | Autoimmune cytopenia | PMID:34975878 [Fam.F080:P080] | |
101132 | M | 210304 | - | German | Autoimmune cytopenia | PMID:34975878 [Fam.F081:P081] | |
101133 | M | 210896 | 34 | Hemolytic anemia | Immunodeficiency, common variable, 13 | PMID:34975878 [Fam.F082:P082] | |
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 | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F101:P101] | |
101165 | M | 211461 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F106:P106] | ||
101178 | M | 210542 | 18,17 | Autoimmune cytopenia,Autoimmune hemolytic anemia | PMID:34975878 [Fam.F114:P114] | ||
101202 | F | 211487 | - | Autoimmune cytopenia | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:III.1(P124)]; PMID:30941118 [Fam.1404:III.1(Pt#23)] | |
101207 | F | 211502 | 41 | Autoimmune hemolytic anemia | PMID:34975878 [Fam.F130:P130] | ||
101260 | M | 212144 | 2 | Iranian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
101287 | F | 212146 | 13 | Saudi | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.4]; PMID:25468195 [Fam.C:II.4(P5)]; PMID:26707784 [P9] |
101295 | M | 212146 | 3 | Saudi | Autoimmune cytopenia | Immunodeficiency, common variable, 8 | PMID:22721650 [VI:5(VI.5)]; PMID:26707784 [P6] |
101309 | M | 212148 | 0 | Saudi | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.A:II.3(P1)]; PMID:26707784 [P15] |
101343 | M | 210134 | 16 | Italian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3] |
101351 | M | 212155 | - | Egyptian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.6:II.3] |
101365 | M | 212160 | - | North American | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:27379089 [P14] |
101371 | M | 212161 | 6 | Turkish | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:30479781 [Fam.P1:V.2(P2)] |
101375 | F | 212162 | - | Iranian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8] |
101376 | F | 212162 | 5 | Iranian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.2(P2)]; PMID:29528757 [Case 4]; PMID:26707784 [Fam.F:IV.2(P31)]; PMID:26993986 [Fam.F7:II.2(2)]; PMID:28512785 [P9] |
101385 | M | 210567 | 28 | German | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F135:P135]; PMID:31857261 [Patient 9] |
101386 | F | 212164 | - | Pakistani | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:22981790 [P1(II.1)]; PMID:26707784 [P11] |
101388 | M | 212165 | 3 | Palestinian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.1:P1]; PMID:26707784 [P20] |
101389 | M | 212166 | 6 | Palestinian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.2:II.1(P2)]; PMID:26707784 [P21] |
101392 | M | 212166 | 2 | Palestinian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.2:II.3(P4)]; PMID:26707784 [P23] |
101395 | M | 212167 | 14 | Egyptian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:27683652 [P1(II.1)] |
101398 | F | 212167 | 14 | Egyptian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:27683652 [Fam.P1:II.4(P2)] |
101408 | M | 212168 | 5 | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:27057999 [Fam.II.2:II.1] | |
101416 | M | 212169 | 7 | Turkish | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:27146671 [Patient(II.1)] |
101442 | F | 210471 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F144:P144] | ||
101443 | M | 212175 | - | North American | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:26206937 [P7] |
101444 | F | 210640 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F145:P145] | ||
101452 | M | 212394 | - | Iranian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33] |
101458 | F | 210656![]() |
12,- | Georgian | Autoimmune cytopenia,Autoimmune hemolytic anemia | 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![]() |
-,26 | German | Autoimmune cytopenia,Autoimmune hemolytic anemia | 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)] |
101478 | F | 210353 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F159:P159] | ||
101479 | F | 210314![]() |
-,55 | German | Autoimmune cytopenia,Autoimmune hemolytic anemia | 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] | |
101503 | M | 210237 | - | Autoimmune hemolytic anemia | PMID:34975878 [Fam.F168:P168] | ||
101524 | F | 210020![]() |
- | German | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.105:II.1(P1)]; PMID:34975878 [Fam.F173:P173] |
101535 | M | 210775 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F177:P177] | ||
101537 | M | 210949 | 33,33 | Autoimmune hemolytic anemia,Hemolytic anemia | PMID:34975878 [Fam.F178:P178] | ||
101553 | M | 210256 | - | German | Autoimmune hemolytic anemia | 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,Autoimmune hemolytic anemia | 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] |
101573 | F | 210707 | 4 | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F196:P196] | |
101613 | F | 210737 | 6 | Hemolytic anemia | PMID:34975878 [Fam.F210:P210] | ||
101644 | F | 210918 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F224:P224] | ||
101648 | M | 211026 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F225:P225] | ||
101651 | M | 210939 | 31 | Autoimmune hemolytic anemia | PMID:34975878 [Fam.F226:P226] | ||
101656 | F | 211483 | 9 | German | Autoimmune hemolytic anemia | PMID:34975878 [Fam.F227:P227] | |
101708 | F | 211547 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F246:P246] | ||
101717 | F | 210260![]() |
9 | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)] |
101719 | F | 210022 | 5 | Iranian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.1(P4)]; PMID:25539626 [Fam.P1:II.2(P2)]; PMID:26707784 [P13] |
101722 | F | 210261![]() |
10 | Asian | Autoimmune hemolytic anemia | 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 | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
101755 | M | 210025 | 2 | North American | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
101756 | F | 210025 | 4 | North American | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)] |
101764 | F | 210031 | - | Dutch | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
101772 | M | 210034 | 4 | Iranian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.773:P22]; PMID:29528757 [Case 9]; PMID:28512785 [P17] |
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)] |
101816 | M | 211529 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F276:P276] | ||
101877 | M | 211741 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F321:P321] | ||
101900 | M | 211773 | 56 | Autoimmune hemolytic anemia | PMID:34975878 [Fam.F331:P331] | ||
101915 | F | 211935 | 34 | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] | |
101951 | M | 212062 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F375:P375] | ||
102175 | M | 210725![]() |
10 | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102180 | F | 214912 | - | Chinese (China) | Autoimmune hemolytic anemia | Severe combined immunodeficiency 9A, T-B- | PMID:26476733 [P7] |
102181 | F | 214913 | 6 | Autoimmune hemolytic anemia | Severe combined immunodeficiency 9A, T-B- | PMID:30877075 [Case 22]; PMID:28864286 [P1]; PMID:28769923 [P34] | |
102222 | M | 214917 | -,53 | German | Autoimmune cytopenia,Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102224 | F | 214919 | 38 | German | Autoimmune hemolytic anemia | DiGeorge syndrome | PMID:35486341 [P017] |
102260 | F | 214926![]() |
- | Mexican | Autoimmune hemolytic anemia | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
102645 | M | 214974![]() |
1 | Caucasian | Autoimmune hemolytic anemia | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
102648 | M | 214975![]() |
6 | Czech | Autoimmune hemolytic anemia | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.1(Patient A)] |
102649 | M | 214975![]() |
1 | Czech | Autoimmune hemolytic anemia | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.2(Patient B)] |
102984 | F | 215074![]() |
9 | European/American | Autoimmune cytopenia | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
103459 | M | 215131![]() |
1 | Omani | Autoimmune hemolytic anemia | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.3:II.1(P3)] |
103485 | F | 215137![]() |
9 | French | Autoimmune hemolytic anemia | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103851 | M | 215261![]() |
- | British | Autoimmune hemolytic anemia | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.6:II.2(P6)] |
103877 | F | 215266![]() |
-,- | Finnish | Autoimmune cytopenia,Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
103880 | F | 215269![]() |
- | Finnish | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
103997 | M | 215318![]() |
- | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
103998 | M | 215319![]() |
- | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P2] | |
103999 | M | 215320![]() |
- | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P3] | |
104000 | M | 215321 | - | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P4] | |
104001 | F | 215322![]() |
- | North American | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1] |
104003 | F | 215324 | - | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P7] | |
104004 | F | 215325 | - | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P8] | |
104005 | F | 215326![]() |
- | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4] | |
104007 | M | 215326![]() |
- | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:I.2(P10)]; PMID:35677041 [Pt5] | |
104522 | F | 215539 | 1 | Gypsy | Autoimmune hemolytic anemia | ARPC1B deficiency | PMID:31379835 [P4] |
104533 | M | 215545![]() |
5 | Caucasian | Autoimmune hemolytic anemia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.B:II.1(Patient B)] |
104534 | M | 215546![]() |
3 | Caucasian | Autoimmune hemolytic anemia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.C:II.1(Patient C)] |
104539 | M | 215548![]() |
- | Algerian | Autoimmune hemolytic anemia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.E:II.1(Patient E)] |
104541 | M | 215550![]() |
5 | North African | Autoimmune hemolytic anemia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.G:II.1(Patient G)] |
104671 | F | 215568![]() |
0 | Lebanese | Autoimmune hemolytic anemia | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104790 | M | 215574![]() |
28 | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
104791 | M | 215575![]() |
14 | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)] | |
104796 | M | 215577![]() |
10 | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)] | |
104797 | M | 215577![]() |
6 | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
104838 | M | 215578![]() |
8 | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56] |
104842 | M | 215579![]() |
-,- | European | Autoimmune cytopenia,Autoimmune hemolytic anemia | 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)] |
104883 | F | 215610 | - | Egyptian | Autoimmune hemolytic anemia | Combined cellular and humoral immune defects with granulomas 1 | PMID:30307608 [29] |
104884 | M | 215611 | - | Egyptian | Autoimmune hemolytic anemia | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | PMID:30307608 [30] |
104885 | F | 215612 | - | Egyptian | Autoimmune hemolytic anemia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [31] |
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![]() |
7 | Caucasian | Autoimmune hemolytic anemia | 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)] |
105043 | F | 215630![]() |
- | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105045 | M | 215631![]() |
- | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10] |
105050 | F | 215633 | - | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Patient 2] | |
105051 | F | 215634![]() |
- | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:29180260 [Patient(II.1)] | |
105057 | F | 215635![]() |
14 | German | Autoimmune hemolytic anemia | 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,Autoimmune hemolytic anemia | 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)] |
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)] |
105111 | F | 215645 | -,- | Autoimmune cytopenia,Autoimmune hemolytic anemia | 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)] | |
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] |
105172 | M | 215659 | 17 | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)] |
105176 | F | 215661 | 4,4 | Caucasian | Autoimmune cytopenia,Autoimmune hemolytic anemia | 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 | 2 | 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)] |
105185 | M | 215663 | 7 | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7] | |
105190 | F | 215664 | 1,1 | Caucasian | Autoimmune cytopenia,Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.F:II.1(7)] |
105194 | M | 215665![]() |
- | Iranian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
105241 | M | 215673 | - | Kuwaiti | Hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:27760045 [P3(II.1)] |
105245 | M | 215674![]() |
-,- | Caucasian | Autoimmune cytopenia,Autoimmune hemolytic anemia | 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![]() |
9,- | Caucasian | Autoimmune cytopenia,Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:32278790 [Fam.AN:III.2(III.1)]; PMID:29403474 [Fam.(12):II.1(P9.2)]; PMID:28983403 [Fam.1:II.1(P9.2)]; PMID:150198 [Fam.AT:III.2(226)] |
105248 | F | 215676 | 6 | Turkish | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:28956255 [P2(II.1)] |
105256 | F | 210008![]() |
- | German | Autoimmune cytopenia | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105280 | M | 215685![]() |
66,- | European | Autoimmune cytopenia,Autoimmune hemolytic anemia | 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)] |
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![]() |
- | European | Autoimmune cytopenia | 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)] |
105316 | U | 215691 | -,- | European | Autoimmune cytopenia,Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
105328 | F | 215693![]() |
-,30 | European | Autoimmune cytopenia,Autoimmune hemolytic anemia | 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 | 24,- | European | Autoimmune cytopenia,Autoimmune hemolytic anemia | 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,Autoimmune hemolytic anemia | 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,Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
105350 | M | 215712 | 2 | Omani | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:28690850 [P1] |
105355 | M | 215717 | 12 | Caucasian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:28197149 [P1(II.1)] |
105357 | M | 215719 | 5 | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:29804237 [P1] | |
105362 | M | 215721![]() |
1 | Iraqi | Hemolytic anemia | Immunodeficiency 87 | PMID:31308374 [Fam.B:II.1(P3)] |
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)] |
105396 | F | 215733![]() |
1 | Moroccan | Autoimmune hemolytic anemia | Immunodeficiency 87 | PMID:32562707 [Fam.1:II.4(Pt 4)] |
105398 | F | 215749 | 0 | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
105403 | M | 215754 | - | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:32915433 [Patient 1] | |
105412 | F | 215762![]() |
11,- | Caucasian | Autoimmune cytopenia,Autoimmune hemolytic anemia | 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)] |
105416 | F | 215764![]() |
- | Chinese (China) | Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:30363934 [case 3(I.2)]; PMID:150198 [Fam.BN:I.2(303)] |
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)] |
105432 | M | 215767![]() |
- | Caucasian | Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200] |
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] |
105471 | M | 215775![]() |
2 | Filipino | Hemolytic anemia | NFKB1 insufficiency | PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T] |
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)] |
105528 | F | 215788 | - | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P6] | |
105529 | M | 215789 | - | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P7] | |
105533 | M | 215791 | 9,35 | Portuguese | Autoimmune hemolytic anemia,Hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105543 | M | 215797 | 30,30 | Autoimmune cytopenia,Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P7] | |
105562 | M | 215805 | - | Turkish | Autoimmune hemolytic anemia | 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![]() |
13 | Spanish | Autoimmune hemolytic anemia | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
105574 | U | 215813 | - | Autoimmune hemolytic anemia | Activated p110-delta syndrome 1 | PMID:24698326 [P5] | |
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)] |
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)] |
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![]() |
- | Australian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.W:II.1(W.II.1)]; PMID:150198 [Fam.CF:II.1(420)] |
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 | NFKB1 insufficiency | PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433] | |
105745 | M | 215850 | - | Autoimmune cytopenia | 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 | - | North American | Autoimmune cytopenia | 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 | - | Portuguese | Autoimmune cytopenia | 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] |
105783 | F | 215876![]() |
20 | Caucasian | Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
105827 | M | 215884 | 6 | German | Autoimmune hemolytic anemia | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.Sporadic patien:Sporadic patient 1] |
105859 | F | 215894![]() |
46 | British | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)] |
105907 | M | 215904 | - | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.J:II.1(J.II.1 (32))] |
105935 | F | 215911![]() |
- | Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:150198 [Fam.EB:II.1(559)]; PMID:34922003 [Fam.D:II.1(D1)] | |
105957 | M | 215914 | - | Caucasian | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105973 | F | 215917 | - | Japanese | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.V:II.1(V.II.1 (53))]; PMID:35087518 [14.1] |
105974 | M | 215918 | - | Japanese | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:I.1(W.I.1 (54))]; PMID:30048690 [Fam.2:I.1(P2.1)]; PMID:35087518 [Fam.15:I.1(15.1)] |
105977 | F | 215918 | - | Japanese | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:35087518 [Fam.15:II.2(15.3)] |
105978 | F | 215918 | - | Japanese | Autoimmune hemolytic anemia | 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)] |
105981 | M | 215919 | - | Caucasian | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))] |
105985 | F | 215920 | 19 | Japanese | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.BB:II.2(BB.II.2 (72))]; PMID:30048690 [Fam.6:II.2(P6.2)]; PMID:35087518 [Fam.17:II.2(17.3)] |
106037 | M | 215925 | - | Japanese | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.DD:II.1(DD.II.1 (75))]; PMID:35087518 [Fam.19:II.1(19.2)] |
106047 | F | 215930 | -,14 | Caucasian | Autoimmune cytopenia,Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106071 | M | 215934 | - | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:I.2(TT.I.1 (100))] |
106075 | M | 215934 | - | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.2(TT.II.2 (101))] |
106076 | F | 215934 | - | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.3(TT.II.3 (102))] |
106100 | F | 215949 | 15 | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.DDD:II.1(DDD.II.1 (133))]; PMID:30048690 [Fam.3:II.1(P3.2)] |
106105 | M | 215950 | - | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
106158 | M | 215957 | - | Turkish | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:28956255 [P5(II.2)]; PMID:31432443 [P2(II.2)] |
106161 | M | 215960 | - | Turkish | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:31432443 [P5] |
106163 | M | 215806 | - | Turkish | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:31432443 [Fam.P6:II.2(P7)] |
106167 | F | 215966 | - | Turkish | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:31432443 [P11] |
106171 | F | 215970 | - | Turkish | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:31432443 [P15] |
106314 | M | 215983 | - | Caucasian | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P2] |
106320 | M | 215984 | 19 | Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:150198 [Fam.EX:608]; PMID:36105815 [L196V] | |
106351 | F | 215997 | - | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.CZ:CZ.II.2] | |
106366 | M | 216002 | 8 | Autoimmune hemolytic anemia | Combined immunodeficiency 36 | PMID:37646304 [P1(IV.1)] | |
106390 | M | 216005 | 18 | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:32996901 [Patient(II.1)] | |
106401 | F | 216006![]() |
- | German | Autoimmune hemolytic anemia | PMID:36273440 [Fam.III.3:III.1] | |
106406 | M | 216007 | - | Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:150198 [Fam.FK:662]; PMID:35242131 [P1] | |
106452 | M | 216017 | - | Egyptian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:32506362 [P1] |
106453 | M | 216018 | - | Egyptian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:32506362 [P2(II.1)] |
106455 | M | 216019 | - | Egyptian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:32506362 [P4] |
106464 | M | 216024 | - | Egyptian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:32506362 [P5] |
106475 | M | 216028 | - | Egyptian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:32506362 [P10] |
106477 | M | 216030 | - | Egyptian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:32506362 [P12] |
106482 | F | 216035 | - | Egyptian | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:32506362 [P17] |
106562 | M | 216079![]() |
6 | Caucasian | Hemolytic anemia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.B:IV.1(P3)] |
106592 | M | 216085 | 16,15 | Autoimmune cytopenia,Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
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)] |
106652 | F | 216099 | - | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34628649 [Fam.Patient:III.2(Sister)] | |
106675 | M | 216105 | 15 | Egyptian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158] |
106697 | F | 216110 | - | Japanese | Autoimmune hemolytic anemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1] |
106789 | M | 216140 | - | Autoimmune cytopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.282] | |
106792 | F | 216141![]() |
- | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.227] | |
106812 | F | 216158 | 22 | Hemolytic anemia | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
106832 | M | 216164 | 7 | Autoimmune hemolytic anemia | Immunodeficiency, common variable, 8 | PMID:30479033 [Patient] | |
106912 | F | 216186 | 49 | Autoimmune cytopenia | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
106954 | M | 216196![]() |
- | Autoimmune hemolytic anemia | NFKB1 insufficiency | PMID:150198 [Fam.GB:II.2(797)]; PMID:38901617 [Fam.2:II.2(P2)] | |
107043 | M | 216282 | - | Autoimmune hemolytic anemia | Activated p110-delta syndrome 1 | PMID:27444043 [P1] | |
107226 | M | 216382 | 7 | North American | Autoimmune hemolytic anemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt6]; PMID:33651637 [Patient 2]; PMID:28349047 [Case] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).