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
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 | 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] |
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 | 210724![]() |
9,- | Caucasian | Autoimmune cytopenia,Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
101043 | M | 210725![]() |
- | Caucasian | Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101045 | M | 210205![]() |
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 | 210205![]() |
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 | 212603![]() |
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 | 211221![]() |
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 | 210656![]() |
-,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 | 210220![]() |
-,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 | 210314![]() |
-,- | 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 | 210220![]() |
-,- | 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 | 212605![]() |
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 | 212618![]() |
1 | Jewish | Thrombocytopenia | ARPC1B deficiency | PMID:29127144 [P1(II.1)] |
101597 | M | 212618![]() |
0 | Jewish | Thrombocytopenia | ARPC1B deficiency | PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6] |
101601 | M | 212619![]() |
- | Italian | Thrombocytopenia | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101604 | M | 212620![]() |
- | Italian | Thrombocytopenia | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
101611 | M | 212622![]() |
- | 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 | 212624![]() |
- | 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 | 212632![]() |
4 | Iranian | Thrombocytopenia | ARPC1B deficiency | PMID:30771411 [P7(IV.8)]; PMID:31710310 [Patient 2] |
101674 | F | 212632![]() |
10 | Iranian | Thrombocytopenia | ARPC1B deficiency | PMID:30771411 [Fam.P7:V.1(P8)] |
101690 | F | 212636![]() |
15 | Jordanian | Thrombocytopenia | ARPC1B deficiency | PMID:30771411 [P13(IV.5)] |
101708 | F | 211547 | - | Autoimmune cytopenia | PMID:34975878 [Fam.F246:P246] | ||
101717 | F | 210260![]() |
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 | 210908![]() |
- | 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 | 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)] |
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 | 210725![]() |
10 | Caucasian | Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102216 | F | 214916![]() |
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 | 214922![]() |
- | Thrombocytopenia | ARPC1B deficiency | PMID:32499645 [Fam.ARPC1B:II.1] | |
102260 | F | 214926![]() |
- | Mexican | Thrombocytopenia | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
102357 | M | 214937![]() |
1 | German | Thrombocytopenia | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.A:II.1(P1)] |
102368 | F | 214938![]() |
0 | Afghanistani | Thrombocytopenia | Stuve-Wiedemann syndrome 2 | PMID:31914175 [Fam.A:II.2] |
102463 | M | 214961![]() |
21 | European | Thrombocytopenia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.H:II.1(P12)] |
102626 | M | 214969![]() |
- | Filipino | Thrombocytopenia | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.1:II.1(P1)] |
102633 | M | 214971![]() |
- | European | Thrombocytopenia | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.3:II.1(P3)] |
102637 | M | 214972![]() |
17 | Thrombocytopenia | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
102641 | M | 214973![]() |
5,6 | European | Autoimmune thrombocytopenia,Thrombocytopenia | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.5:II.2(P5)] |
102645 | M | 214974![]() |
1 | Caucasian | Thrombocytopenia | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
102730 | M | 214981![]() |
0 | Canadian | Thrombocytopenia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)] |
102731 | F | 214982![]() |
2 | Colombian | Autoimmune thrombocytopenia | Immunodeficiency 99 | PMID:32484799 [Patient(II.2)] |
102786 | F | 214988![]() |
23 | Turkish | Thrombocytopenia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
102865 | F | 214996![]() |
- | Italian | Thrombocytopenia | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)] |
102884 | M | 215004![]() |
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 | 215008![]() |
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 | 215074![]() |
9 | European/American | Autoimmune cytopenia | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
102987 | F | 215075![]() |
14 | Austrian | Thrombocytopenia | Immunodeficiency 97 | PMID:33054089 [Patient(II.1)] |
103076 | F | 215099![]() |
2 | Omani | Thrombocytopenia | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103172 | M | 215105![]() |
- | German | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:27808407 [Fam.1:II.2(II-2)] |
103174 | F | 215105![]() |
- | German | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:27808407 [Fam.1:I.2] |
103178 | M | 215106![]() |
- | German | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:27808407 [Fam.2:II.2(II-2)] |
103182 | M | 215106![]() |
- | German | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:27808407 [Fam.2:II.3] |
103259 | M | 215105![]() |
- | German | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:27808407 [Fam.1:III.1] |
103276 | M | 215106![]() |
4 | German | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:27808407 [Fam.2:III.1] |
103351 | M | 215121![]() |
35 | North American | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:32594080 [P1(III.1)] |
103353 | F | 215121![]() |
- | North American | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:32594080 [Fam.P1:I.2] |
103355 | F | 215121![]() |
- | North American | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:32594080 [Fam.P1:II.2] |
103356 | M | 215121![]() |
- | North American | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:32594080 [Fam.P1:II.3] |
103357 | F | 215121![]() |
- | North American | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:32594080 [Fam.P1:II.4] |
103360 | F | 215121![]() |
- | North American | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:32594080 [Fam.P1:IV.1] |
103459 | M | 215131![]() |
4,1 | Omani | Autoimmune thrombocytopenia,Thrombocytopenia | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.3:II.1(P3)] |
103462 | F | 215132![]() |
0 | Moroccan | Thrombocytopenia | ARPC1B deficiency | PMID:35767111 [P4(II.2)] |
103538 | F | 215155![]() |
- | Mexican | Thrombocytopenia | ARPC1B deficiency | PMID:36708766 [Fam.B:II.2(P3)] |
103541 | M | 215155![]() |
- | Mexican | Thrombocytopenia | ARPC1B deficiency | PMID:36708766 [Fam.B:II.1(P4)] |
103542 | M | 215156![]() |
- | Mexican | Thrombocytopenia | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
103547 | M | 215157![]() |
- | Mexican | Thrombocytopenia | ARPC1B deficiency | PMID:36708766 [Fam.D:II.4(P6)] |
103851 | M | 215261![]() |
- | British | Autoimmune thrombocytopenia | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.6:II.2(P6)] |
103858 | M | 215262![]() |
- | Turkish | Thrombocytopenia | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.7:II.2(P8)]; PMID:26233953 [Fam.F2:II.1(P3)] |
103877 | F | 215266![]() |
- | Finnish | Autoimmune cytopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
103997 | M | 215318![]() |
- | Thrombocytopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
103998 | M | 215319![]() |
- | Autoimmune thrombocytopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P2] | |
103999 | M | 215320![]() |
- | 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 | 215326![]() |
- | Autoimmune thrombocytopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4] | |
104008 | F | 215326![]() |
- | Autoimmune thrombocytopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.2(P11)] | |
104011 | M | 215327![]() |
- | Autoimmune thrombocytopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.2:I.2(P13)] | |
104237 | M | 215421![]() |
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 | 215522![]() |
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 | 215544![]() |
3 | Caucasian | Autoimmune thrombocytopenia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.A:II.1(Patient A)] |
104534 | M | 215546![]() |
3 | Caucasian | Autoimmune thrombocytopenia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.C:II.1(Patient C)] |
104539 | M | 215548![]() |
3 | Algerian | Autoimmune thrombocytopenia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.E:II.1(Patient E)] |
104540 | M | 215549![]() |
- | North African | Autoimmune thrombocytopenia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
104541 | M | 215550![]() |
13 | North African | Autoimmune thrombocytopenia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.G:II.1(Patient G)] |
104607 | M | 215556![]() |
- | Thrombocytopenia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.A:II.3(P1)] | |
104671 | F | 215568![]() |
0 | Lebanese | Autoimmune thrombocytopenia | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104685 | F | 215571![]() |
0 | Iranian | Thrombocytopenia | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.6(VI.5)] |
104713 | M | 215571![]() |
0 | Iranian | Thrombocytopenia | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.5(VI.4)] |
104786 | F | 215573![]() |
2 | Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)] | |
104787 | M | 215573![]() |
-,- | Autoimmune thrombocytopenia,Thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
104790 | M | 215574![]() |
28 | Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
104791 | M | 215575![]() |
15 | Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)] | |
104796 | M | 215577![]() |
- | Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)] | |
104797 | M | 215577![]() |
- | Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
104838 | M | 215578![]() |
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 | 215579![]() |
-,- | 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 | 215579![]() |
-,- | 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 | 215579![]() |
- | European | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)] |
104886 | F | 215613![]() |
- | Caucasian | Autoimmune cytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104916 | M | 215613![]() |
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 | 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)] |
105034 | F | 215628![]() |
- | Finnish | Autoimmune thrombocytopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
105040 | M | 215629![]() |
- | Turkish | Autoimmune thrombocytopenia | Immunodeficiency 114 | PMID:36745868 [Fam.1:II.2(P2)] |
105043 | F | 215630![]() |
- | 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 | 215631![]() |
- | Caucasian | Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10] |
105046 | M | 215632![]() |
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 | 215634![]() |
14 | Autoimmune thrombocytopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:29180260 [Patient(II.1)] | |
105057 | F | 215635![]() |
- | 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 | 215639![]() |
-,- | 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 | 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 thrombocytopenia | 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,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 | 215658![]() |
- | 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 | 215665![]() |
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 | 215674![]() |
- | Caucasian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.AN:II.2(II.1)]; PMID:29403474 [Fam.(12):I.1(P9.1)]; PMID:28983403 [Fam.1:I.1(P9.1)]; PMID:150198 [Fam.AT:II.1(223)] |
105246 | M | 215674![]() |
-,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 | 210008![]() |
- | German | Autoimmune cytopenia | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105280 | M | 215685![]() |
- | European | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.B:I.1(I.1)]; PMID:29477724 [Fam.B:I.1(I:1)]; PMID:150198 [Fam.AV:I.1(242)] |
105308 | F | 215687![]() |
-,- | 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 | 215688![]() |
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 | 215693![]() |
- | European | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.L:II.1(II.1)]; PMID:29477724 [Fam.L:II.1(II:1)]; PMID:150198 [Fam.BF:II.1(283)] |
105332 | U | 215694 | -,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 | 215721![]() |
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 | 215762![]() |
-,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 | 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)] |
105450 | F | 215770![]() |
-,- | 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 | 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 | Thrombocytopenia | NFKB1 insufficiency | PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T] |
105475 | F | 215776![]() |
- | European | Thrombocytopenia | Ezrin immunodeficiency | PMID:37301410 [P1(II.4)] |
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 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 | 215807![]() |
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 | 215834![]() |
- | 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 | 215838![]() |
- | Ecuadorian | Autoimmune cytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)] |
105679 | M | 215839![]() |
-,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 | 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] |
105778 | F | 215871![]() |
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 | 215876![]() |
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 | 215893![]() |
- | Thrombocytopenia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:33864888 [S170(II.1)] | |
105859 | F | 215894![]() |
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 | 215900![]() |
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 | 215911![]() |
- | 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 | 215946![]() |
- | 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 | 215975![]() |
48 | Finnish | Autoimmune thrombocytopenia | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
106223 | M | 215976![]() |
- | 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 | 216001![]() |
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 | 216006![]() |
51 | German | Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [Fam.III.3:II.4] |
106403 | M | 210197![]() |
57 | Italian | Autoimmune thrombocytopenia | NFKB1 insufficiency | PMID:150198 [Fam.DZ:I.1(545)] |
106423 | F | 216015![]() |
8 | Autoimmune thrombocytopenia | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.4(765)]; PMID:38130541 [Fam.1:III.4(P1)] | |
106445 | M | 216015![]() |
18 | Autoimmune thrombocytopenia | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)] | |
106448 | F | 216016![]() |
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 | 216022![]() |
- | 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 | 216044![]() |
2 | Autoimmune thrombocytopenia | Immunodeficiency 22 | PMID:22985903 [Fam.1:II.1(patient)] | |
106562 | M | 216079![]() |
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 | 216089![]() |
- | 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 | 216089![]() |
- | 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 | 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)] |
106625 | F | 216092![]() |
- | Admixed | Autoimmune thrombocytopenia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.5:II.2(P13)] |
106637 | M | 216096![]() |
- | 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 | 216189![]() |
43 | Caucasian | Autoimmune thrombocytopenia | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
106954 | M | 216196![]() |
- | 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 | 216334![]() |
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 | 216381![]() |
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 | 216394![]() |
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).