Thrombocytopenia
Basic details
Preferred term: Thrombocytopenia
Alt. terms: Low platelet count
HPO term: Thrombocytopenia
HPO code: HP:0001873
GenIA ID: 143
Last updated on: 2024-04-25 14:48:58
Cross ref. with other ontologies
NCIT: C3408
MESH: D013921
EFO: -
OAE: -
SNOMEDCT: -
ICD10: D69.6
Description
An abnormally small number of platelets in the circulating blood. Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular).
Hierarchical classification
PARENT terms
TERM
Thrombocytopenia
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] |
101021 | M | 210359 | 57 | German | Thrombocytopenia | PMID:34975878 [Fam.F006:P006] | |
101025 | M | 210937 | 59 | Thrombocytopenia | PMID:34975878 [Fam.F010:P010] | ||
101040 | F | 210724![]() |
9,9 | Caucasian | Autoimmune thrombocytopenia,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] |
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 | 61 | German | Thrombocytopenia | PMID:34975878 [Fam.F080:P080] | |
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] | ||
101157 | F | 211016 | 37 | Autoimmune thrombocytopenia | PMID:34975878 [Fam.F099:P099] | ||
101178 | M | 210542 | 17 | Autoimmune thrombocytopenia | PMID:34975878 [Fam.F114:P114] | ||
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 | - | Saudi | 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] |
101443 | M | 212175 | - | North American | Autoimmune thrombocytopenia | Immunodeficiency, common variable, 8 | PMID:26206937 [P7] |
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 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 | Thrombocytopenia | 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 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)] |
101479 | F | 210314![]() |
- | German | 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)] |
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] | |
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] |
101569 | F | 210220![]() |
- | German | 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)] |
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)] |
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 | Thrombocytopenia | 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] | |
101849 | F | 211636 | - | Autoimmune thrombocytopenia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F311:P311] | |
101877 | M | 211741 | 42 | Autoimmune thrombocytopenia | PMID:34975878 [Fam.F321:P321] | ||
101915 | F | 211935 | 32 | Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] | |
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 | 28,28 | German | Autoimmune thrombocytopenia,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 | Thrombocytopenia | 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] |
103194 | F | 215107![]() |
- | Japanese | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:28815995 [Fam.1:V.2(V-2)] |
103198 | F | 215107![]() |
- | Japanese | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:28815995 [Fam.1:II.2(II-2)] |
103208 | F | 215107![]() |
- | Japanese | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:28815995 [Fam.1:III.5(III-5)] |
103218 | F | 215107![]() |
- | Japanese | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:28815995 [Fam.1:IV.3] |
103222 | M | 215107![]() |
- | Japanese | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:28815995 [Fam.1:IV.7(IV-7)] |
103235 | M | 215107![]() |
- | Japanese | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:28815995 [Fam.1:V.3(V-3)] |
103236 | F | 215107![]() |
- | Japanese | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:28815995 [Fam.1:V.4(V-4)] |
103237 | F | 215107![]() |
- | Japanese | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:28815995 [Fam.1:V.5(V-5)] |
103238 | F | 215108![]() |
- | French | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:IV.5(17)] |
103242 | F | 215108![]() |
- | French | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:II.2(4)] |
103243 | F | 215108![]() |
- | French | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:II.3(5)] |
103246 | F | 215108![]() |
- | French | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:III.2(8)] |
103248 | M | 215108![]() |
- | French | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:III.4(10)] |
103249 | F | 215108![]() |
- | French | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:III.5(11)] |
103252 | F | 215108![]() |
- | French | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:IV.2(14)] |
103253 | M | 215108![]() |
- | French | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:IV.3(15)] |
103254 | F | 215108![]() |
- | French | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:IV.4(16)] |
103257 | F | 215109![]() |
- | British | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.2:I.2(21)] |
103259 | M | 215105![]() |
- | German | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:27808407 [Fam.1:III.1] |
103261 | M | 215109![]() |
- | British | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.2:II.1(22)] |
103263 | M | 215109![]() |
- | British | Macrothrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.2:II.3(24)] |
103276 | M | 215106![]() |
4 | German | Thrombocytopenia | Deafness 1, with or without thrombocytopenia | PMID:27808407 [Fam.2:III.1] |
103351 | M | 215121![]() |
35,35 | North American | Macrothrombocytopenia,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![]() |
1,4 | 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)] |
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![]() |
2,- | European | Autoimmune thrombocytopenia,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 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)] |
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 | Thrombocytopenia | 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)] |
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 | 23 | Japanese | Thrombocytopenia | 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 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![]() |
15 | Caucasian | Thrombocytopenia | 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 thrombocytopenia | NFKB1 insufficiency | PMID:27379089 [P4]; PMID:32278790 [AR.I.4]; PMID:29403474 [Patient 4 (10)]; PMID:150198 [Fam.AI:146] | |
105142 | M | 210314![]() |
- | German | 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)] |
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 | Caucasian | Autoimmune thrombocytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)] |
105190 | F | 215664 | 1 | Caucasian | 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)] |
105246 | M | 215674![]() |
9 | Caucasian | 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)] | |
105308 | F | 215687![]() |
- | European | 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 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 thrombocytopenia | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
105332 | U | 215694 | 24 | European | Autoimmune thrombocytopenia | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105335 | U | 215697 | - | European | 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 | Thrombocytopenia | NFKB1 insufficiency | PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268] |
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 | Thrombocytopenia | 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![]() |
11,33 | Caucasian | Autoimmune thrombocytopenia,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![]() |
1 | Admixed | Thrombocytopenia | 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 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] |
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)] |
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 | 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 | - | Turkish | 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)] | |
105660 | F | 215836 | - | Thrombocytopenia | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.3(Sibling 3)] | |
105679 | M | 215839![]() |
11 | Caucasian | Autoimmune thrombocytopenia | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
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)] |
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)] | |
105968 | M | 215916 | 4,3 | 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)] |
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))] |
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] | |
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 | Thrombocytopenia | 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)] |
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 | Thrombocytopenia | 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] | |
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 | Thrombocytopenia | 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).