Hepatomegaly
Basic details
Preferred term: Hepatomegaly
Alt. terms: Enlarged liver | liver enlargement | increased liver volume
HPO term: Hepatomegaly
HPO code: HP:0002240
GenIA ID: 401
Last updated on: 2023-04-03 12:10:34
Cross ref. with other ontologies
NCIT: C3100
MESH: D006529
EFO: -
OAE: -
SNOMEDCT: -
ICD10: R16.0
Description
abnormal enlargement of the liver
Hierarchical classification
TERM
Hepatomegaly
CHILD terms
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | - | German | Abnormal lymphoproliferation | 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] |
101017 | F | 210232 | 51 | German | Hepatomegaly | PMID:34975878 [Fam.F003:P003] | |
101024 | F | 210927 | 43 | Hepatopathy | PMID:34975878 [Fam.F009:P009] | ||
101037 | M | 210182![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.4(B.II.3)]; PMID:30250467 [B.II.3]; PMID:29729943 [Fam.B:II.4(B.II.3 (15))]; PMID:27418640 [P13(5)] |
101038 | F | 210182![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.6(B.II.4)]; PMID:30250467 [B.II.4]; PMID:29729943 [Fam.B:II.6(B.II.4 (16))]; PMID:34975878 [Fam.F014:III.6(P015)]; PMID:27418640 [P14(5)] |
101040 | F | 210724![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
101043 | M | 210725![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101045 | M | 210205![]() |
- | Caucasian | Abnormal lymphoproliferation | 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![]() |
30,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | 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)] |
101059 | M | 211386 | - | Hepatomegaly | PMID:34975878 [Fam.F030:P030]; PMID:31057532 [Fam.F:II.1] | ||
101077 | F | 210211 | 24,- | German | Abnormal lymphoproliferation,Hepatomegaly | PMID:34975878 [Fam.F043:P043] | |
101081 | F | 211315 | 46 | Hepatopathy | PMID:34975878 [Fam.F047:P047] | ||
101082 | F | 211226 | - | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
101091 | M | 210911 | - | Abnormal lymphoproliferation | DiGeorge syndrome | PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180] | |
101095 | M | 210286 | 4 | Hepatomegaly | PMID:34975878 [Fam.F060:P060] | ||
101115 | F | 210778 | 38 | Caucasian | Hepatopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101116 | M | 210282![]() |
- | German | Abnormal lymphoproliferation | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.A:II.2(P2)]; PMID:16384931 [Fam.A:II.3(P2)]; PMID:19426217 [Fam.A:II.2(P2)]; PMID:28861081 [Fam.1:II.2(P2)]; PMID:35486341 [P005] |
101118 | F | 210735 | - | Abnormal lymphoproliferation | Thrombophilia due to Factor V Leiden | PMID:31057532 [Fam.C:II.1] | |
101119 | M | 210264 | - | Abnormal lymphoproliferation | PMID:34975878 [Fam.F070:P070] | ||
101120 | M | 210221 | - | German | Abnormal lymphoproliferation | PMID:34975878 [Fam.F071:P071] | |
101121 | M | 210784 | 46 | German | Hepatopathy | PMID:34975878 [Fam.F072:P072] | |
101122 | M | 210197![]() |
23 | Italian | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
101123 | M | 210255 | - | Abnormal lymphoproliferation | PMID:34975878 [Fam.F074:P074] | ||
101127 | F | 210318 | 46 | German | Hepatopathy | PMID:34975878 [Fam.F077:P077] | |
101128 | M | 210897 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07] |
101150 | F | 210736 | 7,- | Abnormal lymphoproliferation,Hepatomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F093:P093] | |
101155 | M | 210235 | - | German | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098] |
101194 | M | 212378 | - | Egyptian | Hepatomegaly | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES49] |
101199 | F | 211483 | -,- | German | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101228 | M | 210205![]() |
- | Caucasian | Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.3(A.II.2)]; PMID:29729943 [Fam.A:II.3(A.II.2 (2))] |
101260 | M | 212144 | 7 | Iranian | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
101313 | F | 212149 | 13,10 | Lebanese | Hepatomegaly,Hepatopathy | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17] |
101328 | M | 212151 | - | Moroccan | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.2:II.1(2.2)] |
101336 | M | 212152 | -,- | Omani | Abnormal lymphoproliferation,Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
101369 | M | 212161 | - | Turkish | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:30479781 [P1(V.1)] |
101371 | M | 212161 | - | Turkish | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:30479781 [Fam.P1:V.2(P2)] |
101375 | F | 212162 | 3 | Iranian | Hepatomegaly | 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 | - | Iranian | Hepatomegaly | 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] |
101379 | M | 212163 | - | Iranian | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10] |
101391 | F | 211018 | - | Hepatomegaly | PMID:34975878 [Fam.F137:P137] | ||
101395 | M | 212167 | - | Egyptian | Hepatopathy | Immunodeficiency, common variable, 8 | PMID:27683652 [P1(II.1)] |
101401 | F | 210205![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.17(A.II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)] |
101408 | M | 212168 | 5 | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:27057999 [Fam.II.2:II.1] | |
101416 | M | 212169 | 7 | Turkish | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:27146671 [Patient(II.1)] |
101421 | F | 212170 | 6 | Iranian | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
101424 | M | 212172 | 8 | Iranian | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 6]; PMID:26707784 [Fam.D:IV.1(P27)]; PMID:26993986 [F8]; PMID:28512785 [P13] |
101425 | M | 210205![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.8(A.II.5)]; PMID:29729943 [Fam.A:II.8(A.II.5 (4))]; PMID:27418640 [P7(5)] |
101426 | M | 212173 | 3 | Iranian | Hepatomegaly | 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 | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26707784 [P29(II.1)] |
101458 | F | 210656![]() |
-,- | Georgian | Abnormal lymphoproliferation,Hepatomegaly | 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 | Hepatomegaly,Hepatopathy | 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] |
101462 | M | 210006 | 11 | Hepatomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F154:P154] | |
101469 | F | 210220![]() |
-,- | German | Hepatomegaly,Hepatopathy | 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 | 1 | Spanish | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:30386343 [Patient(II.1)] |
101479 | F | 210314![]() |
-,- | German | Hepatomegaly,Hepatopathy | 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)] |
101488 | M | 210401![]() |
-,- | German | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
101553 | M | 210256 | - | German | Hepatomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
101569 | F | 210220![]() |
-,- | German | Hepatomegaly,Hepatopathy | 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] |
101578 | M | 210205![]() |
-,- | German | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)] |
101613 | F | 210737 | 6 | Abnormal lymphoproliferation | PMID:34975878 [Fam.F210:P210] | ||
101669 | M | 211549 | - | Hepatomegaly | PMID:34975878 [Fam.F234:P234] | ||
101717 | F | 210260![]() |
-,7 | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | 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)] |
101722 | F | 210261![]() |
- | Asian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.D:II.1(D.II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)] |
101726 | M | 210182![]() |
- | Caucasian | Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.3(B.II.2)]; PMID:29729943 [Fam.B:II.3(B.II.2 (14))] |
101744 | F | 210182![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.2(B.III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)] |
101753 | M | 210024 | - | Japanese | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
101755 | M | 210025 | 12 | North American | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
101764 | F | 210031 | - | Dutch | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
101767 | F | 210788 | 49 | Hepatopathy | PMID:34975878 [Fam.F249:P249] | ||
101772 | M | 210034 | - | Iranian | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.773:P22]; PMID:29528757 [Case 9]; PMID:28512785 [P17] |
101775 | M | 210908![]() |
- | Argentinian | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101777 | F | 210920 | - | Libyan | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26745254 [P1(II.1)] |
101788 | M | 210950![]() |
- | Swiss | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [P7(II.1)] |
101789 | M | 210950![]() |
- | Swiss | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P7:II.2(P8)] |
101792 | M | 210991 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9(92))] |
101797 | M | 211108 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
101799 | M | 211120 | -,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)] |
101800 | M | 215769![]() |
- | Caucasian | Abnormal lymphoproliferation | 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 | - | Hepatomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F265:P265] | |
101813 | F | 211525 | - | Hepatomegaly | PMID:34975878 [Fam.F273:P273] | ||
101871 | F | 210078 | - | Turkish | Hepatomegaly | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [CMC03] |
101959 | M | 210641 | 41 | German | Hepatomegaly | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.4(II.4)]; PMID:16384931 [Fam.C:II.4(P6)]; PMID:19426217 [Fam.C:II.4(P6)]; PMID:28861081 [Fam.3:II.4(P6)] |
102065 | M | 214285 | - | Egyptian | Hepatomegaly | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES23] |
102092 | F | 214311 | - | Hepatomegaly | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES48] | |
102116 | M | 212357 | - | Egyptian | Hepatomegaly | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES05] |
102121 | M | 214345 | - | Egyptian | Hepatomegaly | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES16] |
102157 | F | 214681 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
102175 | M | 210725![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102180 | F | 214912 | - | Chinese (China) | Hepatomegaly | Severe combined immunodeficiency 9A, T-B- | PMID:26476733 [P7] |
102222 | M | 214917 | 57,- | German | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102224 | F | 214919 | - | German | Abnormal lymphoproliferation | DiGeorge syndrome | PMID:35486341 [P017] |
102509 | M | 214948![]() |
2 | Irish Traveller | Hepatomegaly | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)] |
102637 | M | 214972![]() |
24 | Abnormal lymphoproliferation | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
102786 | F | 214988![]() |
- | Turkish | Hepatopathy | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
103076 | F | 215099![]() |
2 | Omani | Hepatomegaly | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103454 | M | 215130![]() |
3 | Saudi | Hepatomegaly | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.2:II.2(P2)] |
103541 | M | 215155![]() |
- | Mexican | Hepatomegaly | ARPC1B deficiency | PMID:36708766 [Fam.B:II.1(P4)] |
103834 | F | 215257![]() |
- | European | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.2:II.3(P2)] |
103839 | M | 215258![]() |
- | European | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.3:II.3(P3)] |
103844 | F | 215259![]() |
- | European | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.4:II.2(P4)] |
103848 | M | 215260![]() |
- | European | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.5:II.1(P5)] |
103851 | M | 215261![]() |
- | British | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.6:II.2(P6)] |
103859 | M | 215263![]() |
- | Turkish | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5] |
104229 | F | 215420![]() |
42 | German | Hepatomegaly | Polycystic liver disease 5 with or without kidney disease | PMID:36478640 [II.3(II.3)] |
104392 | F | 215520![]() |
- | French | Hepatomegaly | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104540 | M | 215549![]() |
- | North African | Abnormal lymphoproliferation | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
104568 | F | 215551![]() |
- | Pakistani | Hepatomegaly | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)] |
104607 | M | 215556![]() |
- | Hepatomegaly | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.A:II.3(P1)] | |
104630 | M | 215560![]() |
- | Hepatomegaly | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.C:II.2(P3)] | |
104642 | F | 215562 | 1 | Iraqi | Hepatomegaly | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.1(P1.1)] |
104671 | F | 215568![]() |
- | Lebanese | Hepatomegaly | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104787 | M | 215573![]() |
- | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
104790 | M | 215574![]() |
- | Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
104791 | M | 215575![]() |
- | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)] | |
104838 | M | 215578![]() |
- | Caucasian | Abnormal lymphoproliferation | 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] |
104845 | F | 215579![]() |
-,- | European | Hepatomegaly,Hepatopathy | 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)] |
104847 | M | 215581 | 0,0 | Egyptian | Abnormal lymphoproliferation,Hepatomegaly | Omenn syndrome 2 | PMID:30307608 [2] |
104848 | F | 215582 | 0 | Egyptian | Hepatomegaly | Omenn syndrome 2 | PMID:30307608 [3] |
104849 | F | 215583 | 0 | Egyptian | Hepatomegaly | Omenn syndrome 2 | PMID:30307608 [4] |
104850 | M | 215584 | 0 | Egyptian | Abnormal lymphoproliferation | Omenn syndrome 2 | PMID:30307608 [5] |
104851 | M | 215585 | 0,0 | Egyptian | Abnormal lymphoproliferation,Hepatomegaly | Omenn syndrome 3 | PMID:30307608 [6] |
104855 | F | 215589 | 0 | Egyptian | Hepatomegaly | Omenn syndrome 3 | PMID:30307608 [7] |
104858 | M | 215592 | 1 | Egyptian | Abnormal lymphoproliferation | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [11] |
104879 | F | 215606 | 0 | Egyptian | Abnormal lymphoproliferation | Severe combined immunodeficiency 9A, T-B- | PMID:30307608 [25] |
104881 | F | 215608 | - | Egyptian | Hepatomegaly | Severe combined immunodeficiency 10A, T-B+ | PMID:30307608 [27] |
104886 | F | 215613![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | 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![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | 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)] |
105043 | F | 215630![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105046 | M | 215632![]() |
6 | Abnormal lymphoproliferation | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Fam.1:II.1(Patient 1)] | |
105057 | F | 215635![]() |
26 | German | Abnormal lymphoproliferation | 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 | Hepatopathy | 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 | Hepatomegaly | 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![]() |
18 | Caucasian | Hepatomegaly | 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)] |
105142 | M | 210314![]() |
- | German | Hepatomegaly | 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 | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
105172 | M | 215659 | - | Caucasian | Abnormal lymphoproliferation | 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 | - | Caucasian | Abnormal lymphoproliferation | 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 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)] |
105177 | M | 215661 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [L.II.2]; PMID:29729943 [Fam.L:II.2(L.II.2 (36))]; PMID:27102614 [Fam.C:II.2(4)] |
105179 | F | 215661 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)] |
105180 | M | 215662 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105212 | F | 215666![]() |
- | Finnish | Hepatopathy | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)] |
105249 | M | 215676 | 3 | Turkish | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:28956255 [Fam.P2:II.2] |
105254 | F | 215679 | - | Hepatomegaly | Severe combined immunodeficiency 9A, T-B- | PMID:25516070 [Pt1] | |
105256 | F | 210008![]() |
-,- | German | Hepatomegaly,Hepatopathy | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105280 | M | 215685![]() |
- | European | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [Fam.B:I.1(I.1)]; PMID:29477724 [Fam.B:I.1(I:1)]; PMID:150198 [Fam.AV:I.1(242)] |
105301 | M | 215686![]() |
- | European | Hepatopathy | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)] |
105302 | M | 215686![]() |
- | European | Hepatopathy | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)] |
105313 | M | 215688![]() |
7 | European | Abnormal lymphoproliferation | 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)] |
105335 | U | 215697 | - | European | Hepatopathy | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
105336 | M | 215698 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AAA:II.1(AAA.II.1 (130))]; PMID:27908448 [Patient(I.1)] |
105353 | F | 215715 | 10 | Turkish | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26686526 [P1] |
105361 | F | 215701![]() |
- | Pakistani | Hepatomegaly | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.3(P2)] |
105363 | F | 215722 | - | Afro-American | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
105370 | F | 215725 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)] |
105388 | M | 215739 | - | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:31238161 [Fam.F1:P1] | |
105406 | M | 215757 | 3 | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:31876783 [Patient 1] | |
105412 | F | 215762![]() |
-,- | Caucasian | Hepatomegaly,Hepatopathy | 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 | Abnormal lymphoproliferation,Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.1(P8)]; PMID:25457153 [Fam.1:II.2(P1)]; PMID:25075846 [Fam.1:II.2(older-sib)] |
105428 | M | 215766![]() |
-,- | Admixed | Abnormal lymphoproliferation,Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)] |
105458 | M | 215771![]() |
- | Caucasian | Hepatopathy | 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] |
105533 | M | 215791 | - | Portuguese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105546 | M | 215800![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29867916 [N211(II.1)]; PMID:29729943 [Fam.O:II.1(O.II.1 (42))] |
105549 | F | 215801 | 11 | Caucasian | Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:IV.1(P1)] |
105564 | M | 215807![]() |
3 | Spanish | Abnormal lymphoproliferation | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
105573 | U | 215812 | - | Hepatomegaly | Activated p110-delta syndrome 1 | PMID:24698326 [P4] | |
105635 | F | 215829 | 9 | Caucasian | Abnormal lymphoproliferation | Activated p110-delta syndrome 1 | PMID:26371693 [1] |
105671 | M | 215837![]() |
- | Spanish | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
105714 | M | 211370![]() |
-,- | Turkish | Hepatomegaly,Hepatopathy | 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 | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
105740 | U | 215845 | -,- | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
105741 | F | 215846 | -,- | Indian | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [T.I.1]; PMID:150198 [Fam.CJ:426] |
105742 | F | 215847 | -,- | Brasilian | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428] |
105744 | M | 215849 | - | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433] | |
105745 | M | 215850 | - | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
105747 | F | 215852![]() |
-,- | Dutch | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)] |
105750 | M | 215853 | 16,- | North American | Abnormal lymphoproliferation,Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
105752 | M | 215855 | - | Russian | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438] |
105755 | F | 215858 | - | Russian | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441] |
105756 | F | 215859 | - | Portuguese | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
105758 | M | 215861 | - | Iranian | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
105762 | F | 215863 | - | Iranian | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446] |
105773 | M | 215866 | - | German | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
105776 | M | 215869 | - | Iranian | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1] |
105780 | F | 215873 | -,- | German | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
105859 | F | 215894![]() |
46 | British | Abnormal lymphoproliferation | 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 | Abnormal lymphoproliferation | 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 | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.J:II.1(J.II.1 (32))] |
105910 | F | 215905 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))] |
105926 | M | 215909 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)] |
105957 | M | 215914 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105973 | F | 215917 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.V:II.1(V.II.1 (53))]; PMID:35087518 [14.1] |
105974 | M | 215918 | - | Japanese | Abnormal lymphoproliferation | 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 | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:35087518 [Fam.15:II.1(15.2)] |
105977 | F | 215918 | -,- | Japanese | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:35087518 [Fam.15:II.2(15.3)] |
105978 | F | 215918 | - | Japanese | Abnormal lymphoproliferation | 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 | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))] |
105985 | F | 215920 | - | Japanese | Abnormal lymphoproliferation | 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)] |
105986 | F | 215921![]() |
47 | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
105999 | F | 215922![]() |
- | Hepatomegaly | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)] | |
106000 | M | 215922![]() |
- | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.2(641)]; PMID:36203612 [Fam.2:III.2(2.III.2)] | |
106023 | M | 215923 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AA:IV.1(AA.IV.1 (69))]; PMID:30048690 [Fam.4:IV.1(P4.2)]; PMID:35087518 [Fam.16:IV.1(16.2)] |
106036 | F | 215924 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CC:II.1(CC.II.1 (73))]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:35087518 [18.1] |
106041 | M | 215926 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106042 | M | 215927 | - | North American | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [FF.II.1]; PMID:29729943 [Fam.FF:II.1(FF.II.1 (77))] |
106044 | F | 215929 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))] |
106047 | F | 215930 | -,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106057 | F | 210991 | -,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
106060 | F | 210991 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))] |
106068 | M | 215931 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
106069 | F | 215932 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))] |
106070 | F | 215933 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
106094 | M | 215947 | -,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))] |
106097 | M | 215948 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.WW:II.1(WW.II.1 (125))] |
106099 | M | 210955 | -,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))] |
106105 | M | 215950 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
106109 | M | 215952![]() |
- | Iranian | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
106242 | F | 215977 | - | Caucasian | Hepatopathy | PMID:29729943 [Fam.UU:II.4(UU.II.2 (106))]; PMID:29305966 [Fam.IV.2:II.2(II.1)] | |
106246 | F | 215977 | -,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)] |
106251 | M | 215977 | -,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.13(UU.III.9 (112))]; PMID:29305966 [Fam.IV.2:III.7(III.3)] |
106259 | F | 215977 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)] |
106274 | M | 215977 | - | Caucasian | Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.2(UU.IV.2 (115))]; PMID:29305966 [Fam.IV.2:IV.11(IV.7)] |
106313 | F | 215982 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106314 | M | 215983 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P2] |
106348 | M | 215995 | 62 | Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [CO.I.1(I.1)]; PMID:34111452 [CO.I.1 (173)] | |
106363 | F | 216001![]() |
0 | Argentinian | Hepatomegaly | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
106371 | M | 216004 | 22 | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)] | |
106448 | F | 216016![]() |
- | Japanese | Hepatomegaly | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.R:II.1(130)]; PMID:38652464 [Fam.1:II.1(Patient)] |
106495 | F | 216045 | 2 | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:33178652 [Patient] | |
106547 | M | 216075![]() |
- | Dutch | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.C:II.1(P4)]; PMID:25888558 [Fam.1:III.1(P1)] |
106555 | M | 216078![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
106562 | M | 216079![]() |
- | Caucasian | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.B:IV.1(P3)] |
106577 | F | 216081![]() |
- | Caucasian | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.D:II.2(P6)] |
106592 | M | 216085 | 16 | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
106636 | F | 216095 | - | Iranian | Abnormal lymphoproliferation | Activated p110-d syndrome 2 | PMID:31117086 [P34] |
106669 | M | 216103 | - | Hepatopathy | NFKB1 insufficiency | PMID:150198 [Fam.EE:565]; PMID:35281075 [5] | |
106697 | F | 216110 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1] |
106812 | F | 216158 | 15 | Abnormal lymphoproliferation | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
106816 | F | 216162 | - | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
106819 | M | 216163![]() |
- | Chinese (China) | Abnormal lymphoproliferation | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106875 | F | 216179 | - | Japanese | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.4:II.3(P6)] |
106892 | M | 216183 | - | Caucasian | Hepatomegaly | Immunodeficiency, common variable, 17 | PMID:27231034 [Fam.F1:III.3(P1.1)] |
106912 | F | 216186 | 49 | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
106956 | M | 216197 | -,- | Abnormal lymphoproliferation,Hepatomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P12] | |
106958 | M | 216199 | - | Hepatomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P14] | |
107045 | M | 216284 | - | Hepatopathy | Activated p110-delta syndrome 1 | PMID:28428270 [P1] | |
107096 | F | 216332 | 2 | Japanese | Hepatopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
107100 | M | 216334![]() |
2 | Japanese | Hepatomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.5:II.1(P5.1)] |
107107 | M | 216336 | - | Hepatopathy | Hyper-IgE recurrent infection syndrome 1 | PMID:33864888 [S097] | |
107110 | M | 216339![]() |
4 | Indian | Hepatomegaly | Autoinflammation with episodic fever and immune dysregulation | PMID:38609546 [P1(IV.2)] |
107212 | F | 216374 | 4 | Arab | Hepatomegaly | Combined immunodeficiency 37 | PMID:31775018 [Patient] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).