Autoimmune thrombocytopenia

Basic details

Preferred term: Autoimmune thrombocytopenia
Alt. terms: ITP | idiopathic thrombocytopenic purpura | Idiopathic thrombocytopenia | autoimmune cytopenia | immune thrombocytopenia | autoimmune thrombocytopenic purpura

HPO term: Autoimmune thrombocytopenia
HPO code: HP:0001973

GenIA ID: 28
Last updated on: 2024-06-12 10:13:40

Cross ref. with other ontologies

NCIT: C3446
MESH: -
EFO:0007160
OAE:0006462
SNOMEDCT: 128091003
ICD10: D69.3

Description

Autoimmune thrombocytopenia is a type of autoimmune cytopenia caused by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection. It is diagnosed by the presence of thrombocytopenia in combination with detection of antiplatelet antibodies.

Hierarchical classification

TERM

Autoimmune thrombocytopenia

CHILD terms

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101015 M 210203 17,17 German Autoimmune thrombocytopenia,Thrombocytopenia 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 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]
101021 M 210359 57 German Thrombocytopenia PMID:34975878 [Fam.F006:P006]
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]
101040 F 210724tree icon 9,- Caucasian Autoimmune cytopenia,Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15]
101043 M 210725tree icon - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017]
101045 M 210205tree icon 19 Caucasian Autoimmune thrombocytopenia 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)]
101051 F 210205tree icon 26 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:III.5(A.III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)]
101062 M 212603tree icon 0 South Asian Thrombocytopenia ARPC1B deficiency PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)]
101077 F 210211 25 German Thrombocytopenia PMID:34975878 [Fam.F043:P043]
101090 M 211257 15 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13]
101091 M 210911 15 Autoimmune thrombocytopenia DiGeorge syndrome PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180]
101093 M 211289 37 German Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4]
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 thrombocytopenia PMID:34975878 [Fam.F070:P070]
101120 M 210221 25 German Thrombocytopenia PMID:34975878 [Fam.F071:P071]
101125 M 210429 40 German Thrombocytopenia Immunodeficiency, common variable, 1 PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060]
101127 F 210318 39 German Autoimmune thrombocytopenia PMID:34975878 [Fam.F077:P077]
101128 M 210897 21 Caucasian Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07]
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 31 Autoimmune thrombocytopenia Immunodeficiency, common variable, 13 PMID:34975878 [Fam.F082:P082]
101134 F 210901 8 Autoimmune thrombocytopenia PMID:34975878 [Fam.F083:P083]
101135 F 210574 19 Autoimmune thrombocytopenia PMID:34975878 [Fam.F084:P084]
101145 M 211221tree icon 11 German Autoimmune thrombocytopenia NFKB1 insufficiency PMID:33995346 [Fam.A:III.5(Pat4)]; PMID:150198 [Fam.DV:III.5(531)]; PMID:36105815 [Fam.Y350C:III.5(Y350C/4)]
101150 F 210736 7 Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F093:P093]
101151 M 210938 50 Autoimmune thrombocytopenia PMID:34975878 [Fam.F094:P094]
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]
101157 F 211016 37 Autoimmune thrombocytopenia PMID:34975878 [Fam.F099:P099]
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 17,17 Autoimmune cytopenia,Autoimmune thrombocytopenia 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)]
101204 M 211492 - German Thrombocytopenia PMID:34975878 [Fam.F126:P126]
101207 F 211502 56 Autoimmune thrombocytopenia PMID:34975878 [Fam.F130:P130]
101235 M 210135 1 Arab Autoimmune thrombocytopenia PMID:22608502 [Fam.A:I.1]
101260 M 212144 2 Iranian Autoimmune thrombocytopenia 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 thrombocytopenia 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,Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:22721650 [VI:5(VI.5)]; PMID:26707784 [P6]
101296 M 210135 1 Arab Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:22608502 [Fam.A:II.3(P1)]; PMID:26707784 [P1]
101325 M 212150 3 Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28473463 [Fam.1:II.4]
101328 M 212151 - Moroccan Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28473463 [Fam.2:II.1(2.2)]
101343 M 210134 16 Italian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3]
101351 M 212155 - Egyptian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:28473463 [Fam.6:II.3]
101356 F 210135 1 Arab Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2]
101364 F 212159 - North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:27379089 [P13]
101365 M 212160 - North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:27379089 [P14]
101371 M 212161 - Turkish Thrombocytopenia Immunodeficiency, common variable, 8 PMID:30479781 [Fam.P1:V.2(P2)]
101375 F 212162 13 Iranian Autoimmune thrombocytopenia 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 11 Iranian Autoimmune thrombocytopenia 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]
101384 M 210217 - German Thrombocytopenia NFKB1 insufficiency PMID:34975878 [Fam.F134:P134]; PMID:32278790 [BN.I.1]; PMID:150198 [Fam.CZ:445]; PMID:36105815 [Y90S]
101385 M 210567 40 German Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F135:P135]; PMID:31857261 [Patient 9]
101386 F 212164 4 Pakistani Thrombocytopenia Immunodeficiency, common variable, 8 PMID:22981790 [P1(II.1)]; PMID:26707784 [P11]
101388 M 212165 3 Palestinian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:25931386 [Fam.1:P1]; PMID:26707784 [P20]
101389 M 212166 7 Palestinian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:25931386 [Fam.2:II.1(P2)]; PMID:26707784 [P21]
101391 F 211018 10 Autoimmune thrombocytopenia PMID:34975878 [Fam.F137:P137]
101392 M 212166 2 Palestinian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:25931386 [Fam.2:II.3(P4)]; PMID:26707784 [P23]
101404 M 210348 19 Thrombocytopenia PMID:34975878 [Fam.F139:P139]
101408 M 212168 5 Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:27057999 [Fam.II.2:II.1]
101416 M 212169 10 Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:27146671 [Patient(II.1)]
101426 M 212173 2 Iranian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:29528757 [Case 2]; PMID:26707784 [Fam.E:IV.2(P28)]; PMID:26993986 [Fam.F17:II.1(1)]; PMID:28512785 [P7]
101435 F 212171 4 Lebanese Thrombocytopenia Immunodeficiency, common variable, 8 PMID:26707784 [P29(II.1)]
101441 M 212174 7 North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26206937 [P6]
101442 F 210471 - Autoimmune cytopenia PMID:34975878 [Fam.F144:P144]
101443 M 212175 - North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26206937 [P7]
101444 F 210640 - Autoimmune cytopenia PMID:34975878 [Fam.F145:P145]
101452 M 212394 2 Iranian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33]
101454 M 210192 19 Autoimmune thrombocytopenia Immunodeficiency, common variable, 13 PMID:31057532 [Fam.A:II.1]
101458 F 210656tree icon -,12 Georgian Autoimmune cytopenia,Autoimmune thrombocytopenia 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 -,16 German Autoimmune cytopenia,Autoimmune thrombocytopenia 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)]
101473 F 212398 2 Spanish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:30386343 [Patient(II.1)]
101478 F 210353 - Autoimmune cytopenia PMID:34975878 [Fam.F159:P159]
101479 F 210314tree icon -,- German Autoimmune cytopenia,Autoimmune thrombocytopenia 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]
101491 F 212457 - Hungarian Autoimmune thrombocytopenia Severe combined immunodeficiency 9A, T-B- PMID:29410113 [Patient(II.1)]
101505 M 210309 - Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F170:P170]
101535 M 210775 - Autoimmune cytopenia PMID:34975878 [Fam.F177:P177]
101537 M 210949 31 Autoimmune thrombocytopenia PMID:34975878 [Fam.F178:P178]
101553 M 210256 - German Autoimmune thrombocytopenia 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,Autoimmune thrombocytopenia 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 thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F196:P196]
101575 M 210900 - German Thrombocytopenia Adenosine deaminase 2 deficiency PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2]
101579 F 210773 - Turkish Thrombocytopenia Adenosine deaminase 2 deficiency PMID:28493328 [P1]; PMID:31857261 [Patient 13]
101592 M 212605tree icon 0 Moroccan Thrombocytopenia ARPC1B deficiency PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient]
101596 M 212618tree icon 1 Jewish Thrombocytopenia ARPC1B deficiency PMID:29127144 [P1(II.1)]
101597 M 212618tree icon 0 Jewish Thrombocytopenia ARPC1B deficiency PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6]
101601 M 212619tree icon - Italian Thrombocytopenia ARPC1B deficiency PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2]
101604 M 212620tree icon - Italian Thrombocytopenia ARPC1B deficiency PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1]
101611 M 212622tree icon - Colombian Thrombocytopenia ARPC1B deficiency PMID:30254128 [Fam.D:II.4(P4)]
101613 F 210737 9 Thrombocytopenia PMID:34975878 [Fam.F210:P210]
101628 F 210955 14 Caucasian Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.ZZ:I.2(128)]; PMID:34975878 [Fam.F217:P217]
101631 F 212624tree icon - Turkish Thrombocytopenia ARPC1B deficiency PMID:30254128 [Fam.F:II.1(P6)]
101644 F 210918 - Autoimmune cytopenia PMID:34975878 [Fam.F224:P224]
101648 M 211026 - Autoimmune cytopenia PMID:34975878 [Fam.F225:P225]
101656 F 211483 15 German Autoimmune thrombocytopenia PMID:34975878 [Fam.F227:P227]
101671 F 212632tree icon 4 Iranian Thrombocytopenia ARPC1B deficiency PMID:30771411 [P7(IV.8)]; PMID:31710310 [Patient 2]
101674 F 212632tree icon 10 Iranian Thrombocytopenia ARPC1B deficiency PMID:30771411 [Fam.P7:V.1(P8)]
101690 F 212636tree icon 15 Jordanian Thrombocytopenia ARPC1B deficiency PMID:30771411 [P13(IV.5)]
101708 F 211547 - Autoimmune cytopenia PMID:34975878 [Fam.F246:P246]
101717 F 210260tree icon 9 Caucasian Autoimmune thrombocytopenia 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)]
101720 F 210022 2 Iranian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.134:II.2(P5)]; PMID:25539626 [P1(II.1)]; PMID:26707784 [P12]
101748 F 210573 - Autoimmune thrombocytopenia PMID:34975878 [Fam.F248:P248]
101753 M 210024 - Japanese Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.553:II.1(P10)]
101754 M 210024 - Japanese Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.553:II.2(P11)]
101755 M 210025 5 North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)]
101756 F 210025 4 North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)]
101767 F 210788 48 Autoimmune thrombocytopenia PMID:34975878 [Fam.F249:P249]
101768 M 210789 31 Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F250:P250]
101772 M 210034 3 Iranian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.773:P22]; PMID:29528757 [Case 9]; PMID:28512785 [P17]
101775 M 210908tree icon - Argentinian Thrombocytopenia Adenosine deaminase 2 deficiency PMID:28493328 [Fam.P9:II.2(P10)]
101778 M 210920 5 Libyan Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26745254 [Fam.P1:II.3(P2)]
101792 M 210991 - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.NN:II.11(NN.II.9(92))]
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)]
101808 F 211441 - Thrombocytopenia Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F265:P265]
101816 M 211529 - Autoimmune cytopenia PMID:34975878 [Fam.F276:P276]
101849 F 211636 - Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F311:P311]
101877 M 211741 42,- Autoimmune cytopenia,Autoimmune thrombocytopenia PMID:34975878 [Fam.F321:P321]
101915 F 211935 32 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34975878 [Fam.F341:P341]
101951 M 212062 - Autoimmune cytopenia PMID:34975878 [Fam.F375:P375]
102175 M 210725tree icon 10 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)]
102216 F 214916tree icon 3 Belgian Thrombocytopenia Severe congenital neutropenia 11 PMID:32325141 [Patient(II.1)]
102222 M 214917 -,28 German Autoimmune cytopenia,Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C]
102229 F 214922tree icon - Thrombocytopenia ARPC1B deficiency PMID:32499645 [Fam.ARPC1B:II.1]
102260 F 214926tree icon - Mexican Thrombocytopenia ARPC1B deficiency PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)]
102357 M 214937tree icon 1 German Thrombocytopenia Otofaciocervical syndrome 2 PMID:32111619 [Fam.A:II.1(P1)]
102368 F 214938tree icon 0 Afghanistani Thrombocytopenia Stuve-Wiedemann syndrome 2 PMID:31914175 [Fam.A:II.2]
102463 M 214961tree icon 21 European Thrombocytopenia Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.H:II.1(P12)]
102626 M 214969tree icon - Filipino Thrombocytopenia Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.1:II.1(P1)]
102633 M 214971tree icon - European Thrombocytopenia Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.3:II.1(P3)]
102637 M 214972tree icon 17 Thrombocytopenia Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.4:II.2(P4)]
102641 M 214973tree icon 5,6 European Autoimmune thrombocytopenia,Thrombocytopenia Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.5:II.2(P5)]
102645 M 214974tree icon 1 Caucasian Thrombocytopenia Immunodeficiency 98 with autoinflammation PMID:33512449 [Fam.6:II.1(P6)]
102730 M 214981tree icon 0 Canadian Thrombocytopenia Autoinflammation, immune dysregulation, and eosinophilia PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)]
102731 F 214982tree icon 2 Colombian Autoimmune thrombocytopenia Immunodeficiency 99 PMID:32484799 [Patient(II.2)]
102786 F 214988tree icon 23 Turkish Thrombocytopenia Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.D:II.1(P6)]
102865 F 214996tree icon - Italian Thrombocytopenia ARPC1B deficiency | Hartnup disease PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)]
102884 M 215004tree icon 1 Admixed Thrombocytopenia T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:20978268 [Fam.2:II.1(P2)]; PMID:33464451 [P4]; PMID:22721479 [Patient]; PMID:28077132 [P8]
102901 F 215008tree icon 0 Brasilian Thrombocytopenia T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:35064468 [patient(II.2)]
102933 M 215034 - Thrombocytopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P22]; PMID:37419334 [P22(22)]
102984 F 215074tree icon 9 European/American Autoimmune cytopenia Immunodeficiency 97 PMID:31554793 [A.1(II.1)]
102987 F 215075tree icon 14 Austrian Thrombocytopenia Immunodeficiency 97 PMID:33054089 [Patient(II.1)]
103076 F 215099tree icon 2 Omani Thrombocytopenia Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.5(P6)]
103172 M 215105tree icon - German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.1:II.2(II-2)]
103174 F 215105tree icon - German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.1:I.2]
103178 M 215106tree icon - German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.2:II.2(II-2)]
103182 M 215106tree icon - German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.2:II.3]
103259 M 215105tree icon - German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.1:III.1]
103276 M 215106tree icon 4 German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.2:III.1]
103351 M 215121tree icon 35 North American Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [P1(III.1)]
103353 F 215121tree icon - North American Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [Fam.P1:I.2]
103355 F 215121tree icon - North American Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [Fam.P1:II.2]
103356 M 215121tree icon - North American Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [Fam.P1:II.3]
103357 F 215121tree icon - North American Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [Fam.P1:II.4]
103360 F 215121tree icon - North American Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [Fam.P1:IV.1]
103459 M 215131tree icon 4,1 Omani Autoimmune thrombocytopenia,Thrombocytopenia infantile-onset multisystem autoimmune disease-3 PMID:36006710 [Fam.3:II.1(P3)]
103462 F 215132tree icon 0 Moroccan Thrombocytopenia ARPC1B deficiency PMID:35767111 [P4(II.2)]
103538 F 215155tree icon - Mexican Thrombocytopenia ARPC1B deficiency PMID:36708766 [Fam.B:II.2(P3)]
103541 M 215155tree icon - Mexican Thrombocytopenia ARPC1B deficiency PMID:36708766 [Fam.B:II.1(P4)]
103542 M 215156tree icon - Mexican Thrombocytopenia ARPC1B deficiency PMID:36708766 [Fam.C:II.3(P5)]
103547 M 215157tree icon - Mexican Thrombocytopenia ARPC1B deficiency PMID:36708766 [Fam.D:II.4(P6)]
103851 M 215261tree icon - British Autoimmune thrombocytopenia Adenosine deaminase 2 deficiency PMID:24552284 [Fam.6:II.2(P6)]
103858 M 215262tree icon - Turkish Thrombocytopenia Adenosine deaminase 2 deficiency PMID:24552284 [Fam.7:II.2(P8)]; PMID:26233953 [Fam.F2:II.1(P3)]
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]
103997 M 215318tree icon - Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P1]; PMID:30092289 [P16]
103998 M 215319tree icon - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P2]
103999 M 215320tree icon - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P3]
104000 M 215321 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P4]
104003 F 215324 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P7]
104004 F 215325 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P8]
104005 F 215326tree icon - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4]
104008 F 215326tree icon - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [Fam.1:II.2(P11)]
104011 M 215327tree icon - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [Fam.2:I.2(P13)]
104237 M 215421tree icon 0 European/American Thrombocytopenia Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [ref.8]; PMID:36932076 [P1(II.3)]; GRID:000818 [Patient]; GRID:000819 [pt.1]
104351 M 215490 10 Caucasian Thrombocytopenia Hyper-IgE recurrent infection syndrome 1 PMID:26292779 [H1]
104398 M 215522tree icon 0 Czech Thrombocytopenia Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36932076 [P3(II.1)]
104519 F 215537 0 Gypsy Autoimmune thrombocytopenia ARPC1B deficiency PMID:31379835 [P1]
104520 M 215537 - Gypsy Autoimmune thrombocytopenia ARPC1B deficiency PMID:31379835 [Fam.P1:II.2(P2)]
104521 F 215538 - Gypsy Autoimmune thrombocytopenia ARPC1B deficiency PMID:31379835 [P3]
104522 F 215539 1 Gypsy Thrombocytopenia ARPC1B deficiency PMID:31379835 [P4]
104523 F 215540 - Turkish Thrombocytopenia Immunodeficiency 91 and hyperinflammation PMID:34708404 [Fam.1:II.1(P1)]
104532 M 215544tree icon 3 Caucasian Autoimmune thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.A:II.1(Patient A)]
104534 M 215546tree icon 3 Caucasian Autoimmune thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.C:II.1(Patient C)]
104539 M 215548tree icon 3 Algerian Autoimmune thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.E:II.1(Patient E)]
104540 M 215549tree icon - North African Autoimmune thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.F:II.1(Patient F)]
104541 M 215550tree icon 13 North African Autoimmune thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.G:II.1(Patient G)]
104607 M 215556tree icon - Thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.A:II.3(P1)]
104671 F 215568tree icon 0 Lebanese Autoimmune thrombocytopenia Severe early onset systemic inflammation and autoimmunity PMID:37349293 [Fam.1:II.1(P1)]
104685 F 215571tree icon 0 Iranian Thrombocytopenia Severe early onset systemic inflammation and autoimmunity PMID:37382373 [Fam.1:VI.6(VI.5)]
104713 M 215571tree icon 0 Iranian Thrombocytopenia Severe early onset systemic inflammation and autoimmunity PMID:37382373 [Fam.1:VI.5(VI.4)]
104786 F 215573tree icon 2 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)]
104787 M 215573tree icon -,- Autoimmune thrombocytopenia,Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)]
104790 M 215574tree icon 28 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)]
104791 M 215575tree icon 15 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)]
104796 M 215577tree icon - Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)]
104797 M 215577tree icon - Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)]
104838 M 215578tree icon 11 Caucasian Autoimmune thrombocytopenia 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 215579tree icon -,- European Autoimmune cytopenia,Autoimmune thrombocytopenia 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,Autoimmune thrombocytopenia 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 7 Caucasian Thrombocytopenia 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)]
105034 F 215628tree icon - Finnish Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25349174 [Fam.3:II.1(Patient 3)]
105040 M 215629tree icon - Turkish Autoimmune thrombocytopenia Immunodeficiency 114 PMID:36745868 [Fam.1:II.2(P2)]
105043 F 215630tree icon - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))]
105045 M 215631tree icon - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:27379089 [P10]
105046 M 215632tree icon 4 Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28253502 [Fam.1:II.1(Patient 1)]
105050 F 215633 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28253502 [Patient 2]
105051 F 215634tree icon 14 Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:29180260 [Patient(II.1)]
105057 F 215635tree icon - German Autoimmune thrombocytopenia 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,Autoimmune thrombocytopenia 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 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)]
105111 F 215645 -,- Autoimmune cytopenia,Autoimmune thrombocytopenia 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)]
105142 M 210314tree icon -,- German Autoimmune cytopenia,Autoimmune thrombocytopenia 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]
105162 M 215658tree icon - Australian Thrombocytopenia Autoinflammation, panniculitis, and dermatosis syndrome 2 PMID:38914362 [Fam.N:II.1(110)]; PMID:38630025 [Fam.1:II.1(Patient 1)]
105172 M 215659 - Caucasian Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)]
105175 M 215660 10 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.Q:II.1(Q.II.1 (44))]; PMID:27102614 [Fam.B:I.1(2)]
105176 F 215661 4,4 Caucasian Autoimmune cytopenia,Autoimmune thrombocytopenia 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 thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:27102614 [Fam.F:II.1(7)]
105192 M 215664 - Autoimmune thrombocytopenia PMID:27102614 [Fam.F:I.1(father)]
105194 M 215665tree icon 2,2 Iranian Autoimmune thrombocytopenia,Thrombocytopenia Immunodeficiency, common variable, 8 PMID:27888588 [Case(II.1)]
105241 M 215673 - Kuwaiti Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:27760045 [P3(II.1)]
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 -,9 Caucasian Autoimmune cytopenia,Autoimmune thrombocytopenia 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 thrombocytopenia Immunodeficiency, common variable, 8 PMID:28956255 [P2(II.1)]
105249 M 215676 3 Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28956255 [Fam.P2:II.2]
105251 M 215678 - Thrombocytopenia Combined immunodeficiency 36 PMID:33876203 [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)]
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)]
105308 F 215687tree icon -,- European Autoimmune cytopenia,Autoimmune thrombocytopenia 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 6,- European Autoimmune cytopenia,Autoimmune thrombocytopenia 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 thrombocytopenia 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 -,24 European Autoimmune cytopenia,Autoimmune thrombocytopenia 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 thrombocytopenia 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 2 Omani Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28690850 [P1]
105355 M 215717 7 Caucasian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28197149 [P1(II.1)]
105362 M 215721tree icon 2 Iraqi Thrombocytopenia 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)]
105385 M 215736 3 Thrombocytopenia Immunodeficiency, common variable, 8 PMID:29183106 [P7]
105386 F 215737 13 Thrombocytopenia Immunodeficiency, common variable, 8 PMID:29183106 [Patient 8]
105398 F 215749 0,- Autoimmune thrombocytopenia,Thrombocytopenia Immunodeficiency, common variable, 8 PMID:31389321 [Patient 1]
105403 M 215754 10 Thrombocytopenia Immunodeficiency, common variable, 8 PMID:32915433 [Patient 1]
105410 M 215760 0 Indian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:33713070 [Case1]
105412 F 215762tree icon -,11 Caucasian Autoimmune cytopenia,Autoimmune thrombocytopenia 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)]
105450 F 215770tree icon -,- Caucasian Autoimmune cytopenia,Autoimmune thrombocytopenia 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]
105471 M 215775tree icon 2 Filipino Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T]
105475 F 215776tree icon - European Thrombocytopenia Ezrin immunodeficiency PMID:37301410 [P1(II.4)]
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)]
105528 F 215788 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:27379089 [P6]
105529 M 215789 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:27379089 [P7]
105530 F 215790 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:27379089 [P8]
105533 M 215791 35,9 Portuguese Autoimmune thrombocytopenia,Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29225858 [Patient(I.1)]
105543 M 215797 30,30 Autoimmune cytopenia,Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:28983403 [P7]
105549 F 215801 15 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29200144 [Fam.A:IV.1(P1)]
105562 M 215805 15 Turkish Thrombocytopenia Immunodeficiency, common variable, 8 PMID:31026575 [P1]; PMID:31432443 [P4]
105563 F 215806 10,- Turkish Autoimmune cytopenia,Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31026575 [P2]; PMID:31432443 [P6(II.1)]
105564 M 215807tree icon 10 Spanish Autoimmune thrombocytopenia 4q24 deletion syndrome PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)]
105571 U 215810 - Thrombocytopenia Activated p110-delta syndrome 1 PMID:24698326 [P3]
105572 M 215811 16 South Asian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32154999 [Patient]
105574 U 215813 - Thrombocytopenia Activated p110-delta syndrome 1 PMID:24698326 [P5]
105587 F 215820 - Caucasian Autoimmune thrombocytopenia Activated p110-delta syndrome 1 PMID:24610295 [Fam.1:II.1(F1P1)]
105616 F 215822 - Caucasian Thrombocytopenia Activated p110-delta syndrome 1 PMID:25352054 [Fam.1:II.4(P1)]
105617 F 215822 - Caucasian Thrombocytopenia PMID:25352054 [Fam.1:I.1(I.1)]
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)]
105660 F 215836 - Thrombocytopenia Activated p110-delta syndrome 1 PMID:26437962 [Fam.A:II.3(Sibling 3)]
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 -,11 Caucasian Autoimmune cytopenia,Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)]
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 - Australian Autoimmune cytopenia NFKB1 insufficiency PMID:32278790 [Fam.W:II.1(W.II.1)]; PMID:150198 [Fam.CF:II.1(420)]
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 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 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 - 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]
105778 F 215871tree icon 7 Spanish Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)]
105780 F 215873 - German Autoimmune cytopenia NFKB1 insufficiency PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475]
105783 F 215876tree icon 50 Caucasian Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)]
105800 M 215882 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33864888 [S112]
105827 M 215884 10 German Autoimmune thrombocytopenia Activated p110-delta syndrome 1 PMID:26437962 [Fam.Sporadic patien:Sporadic patient 1]
105852 M 215893tree icon - Thrombocytopenia Autoinflammation, immune dysregulation, and eosinophilia PMID:33864888 [S170(II.1)]
105859 F 215894tree icon 18 British Autoimmune thrombocytopenia 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)]
105899 F 215900tree icon 4 North American Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.DW:II.1(538)]; PMID:34307247 [Fam.1:II.1(daughter1)]; PMID:28802957 [Fam.1:II.1(II.1)]
105907 M 215904 - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.J:II.1(J.II.1 (32))]
105926 M 215909 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)]
105935 F 215911tree icon - Autoimmune thrombocytopenia 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))]
105968 M 215916 3,4 Japanese Autoimmune thrombocytopenia,Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.U:II.1(U.II.1 (50))]; PMID:30048690 [Fam.1:II.1(P1.2)]; PMID:35087518 [Fam.13:II.1(13.2)]
105973 F 215917 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.V:II.1(V.II.1 (53))]; PMID:35087518 [14.1]
105974 M 215918 - Japanese Autoimmune thrombocytopenia 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)]
105976 M 215918 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:35087518 [Fam.15:II.1(15.2)]
105978 F 215918 - Japanese Autoimmune thrombocytopenia 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 thrombocytopenia 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 thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.DD:II.1(DD.II.1 (75))]; PMID:35087518 [Fam.19:II.1(19.2)]
106042 M 215927 16 North American Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [FF.II.1]; PMID:29729943 [Fam.FF:II.1(FF.II.1 (77))]
106047 F 215930 14 Caucasian Autoimmune cytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))]
106077 M 215934 - Caucasian Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))]
106090 M 215946tree icon - Saudi Thrombocytopenia T-cell immunodeficiency with thymic aplasia PMID:33464451 [P11]; PMID:37419334 [P11(27)]; PMID:31151968 [Fam.1:II.2(Patient)]
106099 M 210955 - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))]
106100 F 215949 15 Caucasian Autoimmune thrombocytopenia 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 thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))]
106157 M 215956 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P1]
106158 M 215957 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28956255 [P5(II.2)]; PMID:31432443 [P2(II.2)]
106161 M 215960 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P5]
106163 M 215806 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [Fam.P6:II.2(P7)]
106164 M 215963 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P8]
106166 M 215965 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P10]
106167 F 215966 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P11]
106170 F 215969 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P14]
106171 F 215970 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P15]
106172 F 215971 - German Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FI:660]; GRID:001142 [FR302]
106209 F 215975tree icon 48 Finnish Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)]
106223 M 215976tree icon - Finnish Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FN:II.1(710)]; PMID:36356849 [Fam.4:II.1(F4:II:1)]; PMID:38593810 [Fam.3:II.1(F3.II-1)]
106320 M 215984 - Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.EX:608]; PMID:36105815 [L196V]
106326 F 215986 - Thrombocytopenia 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 25,- Autoimmune thrombocytopenia,Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:31993940 [Patient(II.1)]
106363 F 216001tree icon 0 Argentinian Thrombocytopenia Immunodeficiency 117 PMID:36736301 [Fam.A:II.1(P1)]
106390 M 216005 14 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:32996901 [Patient(II.1)]
106399 M 216006tree icon 51 German Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [Fam.III.3:II.4]
106403 M 210197tree icon 57 Italian Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.DZ:I.1(545)]
106423 F 216015tree icon 8 Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FU:III.4(765)]; PMID:38130541 [Fam.1:III.4(P1)]
106445 M 216015tree icon 18 Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)]
106448 F 216016tree icon 0 Japanese Thrombocytopenia Autoinflammation, panniculitis, and dermatosis syndrome 2 PMID:38914362 [Fam.R:II.1(130)]; PMID:38652464 [Fam.1:II.1(Patient)]
106452 M 216017 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P1]
106455 M 216019 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P4]
106460 M 216022tree icon - Chinese (China) Autoimmune thrombocytopenia Immunodeficiency 21 PMID:38028622 [Fam.F11:II.1(index)]
106471 M 216025 - Egyptian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P6]
106472 M 216026 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P7(II.1)]
106475 M 216028 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P10]
106476 M 216029 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P11]
106477 M 216030 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P12]
106480 M 216033 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [Fam.216032:II.2(P15)]
106482 F 216035 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P17]
106491 F 216044tree icon 2 Autoimmune thrombocytopenia Immunodeficiency 22 PMID:22985903 [Fam.1:II.1(patient)]
106562 M 216079tree icon 6 Caucasian Thrombocytopenia Adenosine deaminase 2 deficiency PMID:26867732 [Fam.B:IV.1(P3)]
106592 M 216085 15 Autoimmune cytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34116213 [Fam.A:II.1(P1)]
106595 F 216086 12 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34116213 [Fam.B:P2]
106611 M 216089tree icon - Australian Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:30323807 [Fam.1:I.1(I.1)]; PMID:29114388 [Fam.A:I.1(I.1)]
106612 F 216089tree icon - Australian Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:30323807 [Fam.1:I.2(I.2)]; PMID:29114388 [Fam.A:I.2(I.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)]
106625 F 216092tree icon - Admixed Autoimmune thrombocytopenia Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.5:II.2(P13)]
106637 M 216096tree icon - Danish Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:32047491 [P3(II.1)]
106646 M 216099 18 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34628649 [Patient(III.1)]
106649 M 216099 - Autoimmune thrombocytopenia PMID:34628649 [Fam.Patient:II.3(Uncle)]
106650 M 216099 - Autoimmune thrombocytopenia PMID:34628649 [Fam.Patient:I.1(Grandfather)]
106652 F 216099 - Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34628649 [Fam.Patient:III.2(Sister)]
106668 M 216102 24 Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.ED:564]; PMID:35281075 [4]
106669 M 216103 29 Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.EE:565]; PMID:35281075 [5]
106670 F 216104 30 Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.EF:566]; PMID:35281075 [7]
106675 M 216105 7 Egyptian Autoimmune cytopenia NFKB1 insufficiency PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158]
106697 F 216110 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1]
106708 F 216115 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.23:23.1]
106710 M 216117 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.25:25.1]
106788 F 216139 - Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:34619682 [P.71]
106789 M 216140 - Autoimmune cytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34619682 [P.282]
106812 F 216158 22 Thrombocytopenia Immunodeficiency, common variable, 14 PMID:39059757 [P4]
106816 F 216162 4 Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:39184709 [Fam.1:II.1(Patient)]
106832 M 216164 7,9 Autoimmune thrombocytopenia,Thrombocytopenia Immunodeficiency, common variable, 8 PMID:30479033 [Patient]
106912 F 216186 49 Autoimmune cytopenia Immunodeficiency, common variable, 8 PMID:39289195 [Patient(II.2)]
106939 M 216189tree icon 43 Caucasian Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)]
106954 M 216196tree icon - Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.GB:II.2(797)]; PMID:38901617 [Fam.2:II.2(P2)]
106957 F 216198 - Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P13]
106959 M 216200 - Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P17]; PMID:35677041 [Pt9]
106964 M 216205 - Thrombocytopenia T-cell LGL leukemia 1 PMID:22591296 [P5]
106966 F 216207 - Thrombocytopenia T-cell LGL leukemia 1 PMID:22591296 [P7]
106974 M 216215 - Thrombocytopenia T-cell LGL leukemia 1 PMID:22591296 [P15]
106979 F 216220 - Thrombocytopenia T-cell LGL leukemia 1 PMID:22591296 [P20]
107100 M 216334tree icon 2 Japanese Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [Fam.5:II.1(P5.1)]
107108 F 216337 - German Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34619682 [P.165]
107225 M 216381tree icon 0 Vietnamese Thrombocytopenia Hemophagocytic lymphohistiocytosis, familial 5 PMID:36503158 [Patient(III.3)]
107226 M 216382 7 North American Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:35677041 [Pt6]; PMID:33651637 [Patient 2]; PMID:28349047 [Case]
107245 M 216394tree icon 2 Caucasian Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30809743 [Fam.2:II.1(Pt#2)]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).