Hepatosplenomegaly
Basic details
Preferred term: Hepatosplenomegaly
Alt. terms: Enlarged liver and spleen
HPO term: Hepatosplenomegaly
HPO code: HP:0001433
GenIA ID: 1871
Last updated on: 2021-08-02 21:50:33
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
Simultaneous enlargement of the liver and spleen.
Hierarchical classification
PARENT terms
TERM
Hepatosplenomegaly
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] |
| 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 | 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 |
- | Caucasian | Abnormal lymphoproliferation | 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)] |
| 101077 | F | 210211 | - | German | Abnormal lymphoproliferation | PMID:34975878 [Fam.F043:P043] | |
| 101091 | M | 210911 | - | Abnormal lymphoproliferation | DiGeorge syndrome | PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180] | |
| 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] | |
| 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] | ||
| 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 | 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] |
| 101199 | F | 211483 | - | German | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
| 101260 | M | 212144 | 7 | Iranian | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
| 101336 | M | 212152 | - | Omani | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
| 101379 | M | 212163 | - | Iranian | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10] |
| 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)] |
| 101421 | F | 212170 | 6 | Iranian | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
| 101424 | M | 212172 | 8 | Iranian | Hepatosplenomegaly | 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 | - | Iranian | Hepatosplenomegaly | 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] |
| 101452 | M | 212394 | - | Iranian | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33] |
| 101458 | F | 210656 |
- | Georgian | Abnormal lymphoproliferation | 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)] |
| 101578 | M | 210205 |
- | German | Abnormal lymphoproliferation | 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)] |
| 101604 | M | 212620 |
- | Italian | Hepatosplenomegaly | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
| 101608 | M | 212621 |
- | Canadian | Hepatosplenomegaly | ARPC1B deficiency | PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3] |
| 101611 | M | 212622 |
- | Colombian | Hepatosplenomegaly | ARPC1B deficiency | PMID:30254128 [Fam.D:II.4(P4)] |
| 101613 | F | 210737 | 6 | Abnormal lymphoproliferation | PMID:34975878 [Fam.F210:P210] | ||
| 101631 | F | 212624 |
- | Turkish | Hepatosplenomegaly | ARPC1B deficiency | PMID:30254128 [Fam.F:II.1(P6)] |
| 101717 | F | 210260 |
- | Caucasian | Abnormal lymphoproliferation | 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)] |
| 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)] |
| 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 | 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)] |
| 102157 | F | 214681 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
| 102175 | M | 210725 |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
| 102224 | F | 214919 | - | German | Abnormal lymphoproliferation | DiGeorge syndrome | PMID:35486341 [P017] |
| 102260 | F | 214926 |
- | Mexican | Hepatosplenomegaly | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
| 102466 | M | 214962 |
0 | Polish | Hepatosplenomegaly | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
| 102626 | M | 214969 |
15 | Filipino | Hepatosplenomegaly | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.1:II.1(P1)] |
| 102630 | M | 214970 |
1 | European | Hepatosplenomegaly | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
| 102633 | M | 214971 |
7 | European | Hepatosplenomegaly | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.3:II.1(P3)] |
| 102637 | M | 214972 |
24 | Abnormal lymphoproliferation | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
| 102645 | M | 214974 |
1 | Caucasian | Hepatosplenomegaly | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
| 102648 | M | 214975 |
8 | Czech | Hepatosplenomegaly | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.1(Patient A)] |
| 102649 | M | 214975 |
8 | Czech | Hepatosplenomegaly | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.2(Patient B)] |
| 102659 | F | 214979 |
1 | Moroccan | Hepatosplenomegaly | Immunodeficiency 8 | PMID:23522482 [P3(V.3)] |
| 102719 | F | 214981 |
0 | Canadian | Hepatosplenomegaly | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:II.2(Patient)]; PMID:36546480 [Fam.1:II.2(II-2)] |
| 102729 | M | 214981 |
0 | Canadian | Hepatosplenomegaly | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)] |
| 102730 | M | 214981 |
0 | Canadian | Hepatosplenomegaly | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)] |
| 102735 | F | 214983 |
- | North American | Hepatosplenomegaly | Autoinflammation, immune dysregulation, and eosinophilia | PMID:32750333 [Patient(II.2)] |
| 102739 | F | 214984 |
0 | Japanese | Hepatosplenomegaly | Autoinflammation, immune dysregulation, and eosinophilia | PMID:35046931 [Patient(II.1)] |
| 102819 | M | 214995 | 0 | Hepatosplenomegaly | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency | PMID:14523047 [Patient(II.1)] | |
| 102871 | F | 215001 |
1 | Italian | Hepatosplenomegaly | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:8911612 [A.D.]; PMID:10206641 [Patient(II.2)]; PMID:33464451 [P1(II.2)]; PMID:28077132 [Fam.1:II.2(P1)] |
| 102901 | F | 215008 |
1 | Brasilian | Hepatosplenomegaly | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:35064468 [patient(II.2)] |
| 103542 | M | 215156 |
- | Mexican | Hepatosplenomegaly | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
| 103997 | M | 215318 |
- | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
| 103998 | M | 215319 |
- | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P2] | |
| 103999 | M | 215320 |
- | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P3] | |
| 104001 | F | 215322 |
- | North American | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1] |
| 104002 | F | 215323 |
- | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
| 104005 | F | 215326 |
- | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4] | |
| 104007 | M | 215326 |
- | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:I.2(P10)]; PMID:35677041 [Pt5] | |
| 104008 | F | 215326 |
- | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.2(P11)] | |
| 104237 | M | 215421 |
0 | European/American | Hepatosplenomegaly | 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 | Hepatosplenomegaly | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H1] |
| 104355 | M | 215494 | 3 | Hepatosplenomegaly | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H8]; PMID:22126402 [case] | |
| 104392 | F | 215520 |
0 | French | Hepatosplenomegaly | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
| 104398 | M | 215522 |
0 | Czech | Hepatosplenomegaly | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36932076 [P3(II.1)] |
| 104528 | M | 215543 | 0 | Iranian | Hepatosplenomegaly | Immunodeficiency 91 and hyperinflammation | PMID:33876776 [Fam.A:II.2(P1)] |
| 104540 | M | 215549 |
- | North African | Abnormal lymphoproliferation | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
| 104580 | F | 215553 |
- | Turkish | Hepatosplenomegaly | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27559085 [Fam.3:II.1(P3)]; PMID:35587511 [Fam.H:II.1(3)]; PMID:34797715 [P3]; PMID:38914362 [Fam.C:II.1(039)] |
| 104592 | F | 215555 |
1 | Iranian | Hepatosplenomegaly | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:30796585 [Patient(V.3)]; PMID:35587511 [Fam.J:II.3(5)]; PMID:38914362 [Fam.E:V.3(065)] |
| 104639 | F | 215562 | 2 | Iraqi | Hepatosplenomegaly | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.2(P1.2)] |
| 104671 | F | 215568 |
0 | Lebanese | Hepatosplenomegaly | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
| 104681 | F | 215569 |
- | Iranian | Hepatosplenomegaly | PMID:37349293 [Fam.2:II.1(sister)] | |
| 104685 | F | 215571 |
- | Iranian | Hepatosplenomegaly | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.6(VI.5)] |
| 104713 | M | 215571 |
- | Iranian | Hepatosplenomegaly | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.5(VI.4)] |
| 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 |
- | Hepatosplenomegaly | 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] |
| 104847 | M | 215581 | 0 | Egyptian | Abnormal lymphoproliferation | Omenn syndrome 2 | PMID:30307608 [2] |
| 104850 | M | 215584 | 0 | Egyptian | Abnormal lymphoproliferation | Omenn syndrome 2 | PMID:30307608 [5] |
| 104851 | M | 215585 | 0 | Egyptian | Abnormal lymphoproliferation | Omenn syndrome 3 | PMID:30307608 [6] |
| 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] |
| 104886 | F | 215613 |
-,- | Caucasian | Abnormal lymphoproliferation,Hepatosplenomegaly | 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 | 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)] |
| 105025 | F | 215626 |
- | French | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8] |
| 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 |
6,2 | Abnormal lymphoproliferation,Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Fam.1:II.1(Patient 1)] | |
| 105050 | F | 215633 | 1 | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Patient 2] | |
| 105057 | F | 215635 |
26,- | German | Abnormal lymphoproliferation,Hepatosplenomegaly | 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)] |
| 105105 | F | 215643 |
16 | Caucasian | Hepatosplenomegaly | 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)] |
| 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)] |
| 105248 | F | 215676 | 12 | Turkish | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:28956255 [P2(II.1)] |
| 105249 | M | 215676 | 3 | Turkish | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:28956255 [Fam.P2:II.2] |
| 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)] |
| 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)] |
| 105339 | F | 215701 |
- | Pakistani | Hepatosplenomegaly | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.4(P1)] |
| 105343 | F | 215705 | 2 | Finnish | Hepatosplenomegaly | Early-onset pulmonary and cutaneous vasculitis | PMID:34536415 [P1(I.1)] |
| 105348 | M | 215710 | 56 | Hepatosplenomegaly | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P1(II.-)] | |
| 105350 | M | 215712 | 1 | Omani | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:28690850 [P1] |
| 105353 | F | 215715 | 10 | Turkish | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:26686526 [P1] |
| 105357 | M | 215719 | 4 | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:29804237 [P1] | |
| 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] | |
| 105398 | F | 215749 | - | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
| 105403 | M | 215754 | 9 | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:32915433 [Patient 1] | |
| 105406 | M | 215757 | 3 | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:31876783 [Patient 1] | |
| 105410 | M | 215760 | - | Indian | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:33713070 [Case1] |
| 105423 | M | 215765 |
- | Caucasian | Hepatosplenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)] |
| 105424 | M | 215766 |
- | Admixed | Abnormal lymphoproliferation | 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 | 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)] |
| 105470 | M | 215774 | - | Iranian | Hepatosplenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.BP:309]; PMID:31117086 [P35] |
| 105486 | F | 215779 |
- | Afro-American | Hepatosplenomegaly | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.C:II.1(C.1)] |
| 105509 | M | 215784 |
- | Caucasian | Hepatosplenomegaly | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:II.1(D.II.1)] |
| 105513 | F | 215787 |
- | Caucasian | Hepatosplenomegaly | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.F:II.1(F.II.1)] |
| 105533 | M | 215791 | 44,- | Portuguese | Abnormal lymphoproliferation,Hepatosplenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
| 105537 | M | 215793 | - | Hepatosplenomegaly | Activated p110-delta syndrome 1 | PMID:24698326 [P1] | |
| 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))] |
| 105562 | M | 215805 | 4 | Turkish | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
| 105563 | F | 215806 | 10 | Turkish | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:31026575 [P2]; PMID:31432443 [P6(II.1)] |
| 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)] |
| 105572 | M | 215811 | 7 | South Asian | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:32154999 [Patient] |
| 105574 | U | 215813 | 5 | Hepatosplenomegaly | Activated p110-delta syndrome 1 | PMID:24698326 [P5] | |
| 105576 | U | 215815 | - | Hepatosplenomegaly | Activated p110-delta syndrome 1 | PMID:24698326 [P8] | |
| 105623 | M | 215822 | 6 | Caucasian | Hepatosplenomegaly | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:II.6(P2)] |
| 105635 | F | 215829 | -,9 | Caucasian | Abnormal lymphoproliferation,Hepatosplenomegaly | Activated p110-delta syndrome 1 | PMID:26371693 [1] |
| 105750 | M | 215853 | 16 | North American | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
| 105773 | M | 215866 | 63 | German | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
| 105799 | M | 215881 |
1 | Pakistani | Hepatosplenomegaly | Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
| 105852 | M | 215893 |
- | Hepatosplenomegaly | Autoinflammation, immune dysregulation, and eosinophilia | PMID:33864888 [S170(II.1)] | |
| 105859 | F | 215894 |
46,46 | British | Abnormal lymphoproliferation,Hepatosplenomegaly | 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 | 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 | 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)] | |
| 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 | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
| 106057 | F | 210991 | - | Caucasian | Abnormal lymphoproliferation | 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 | 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 | 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))] |
| 106246 | F | 215977 | - | Caucasian | Abnormal lymphoproliferation | 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 | 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)] |
| 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] |
| 106342 | F | 215992 | 8 | Russian | Hepatosplenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.EV:606]; PMID:36105815 [G92V] |
| 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)] | |
| 106423 | F | 216015 |
- | Hepatosplenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.4(765)]; PMID:38130541 [Fam.1:III.4(P1)] | |
| 106445 | M | 216015 |
18 | Hepatosplenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)] | |
| 106464 | M | 216024 | - | Egyptian | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:32506362 [P5] |
| 106471 | M | 216025 | - | Egyptian | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:32506362 [P6] |
| 106480 | M | 216033 | - | Egyptian | Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:32506362 [Fam.216032:II.2(P15)] |
| 106555 | M | 216078 |
6,- | Caucasian | Abnormal lymphoproliferation,Hepatosplenomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
| 106558 | M | 216078 |
1 | Caucasian | Hepatosplenomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)] |
| 106592 | M | 216085 | 16 | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
| 106636 | F | 216095 | -,- | Iranian | Abnormal lymphoproliferation,Hepatosplenomegaly | Activated p110-d syndrome 2 | PMID:31117086 [P34] |
| 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 | - | Hepatosplenomegaly | 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])] |
| 106912 | F | 216186 | 49,49 | Abnormal lymphoproliferation,Hepatosplenomegaly | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
| 106939 | M | 216189 |
43 | Caucasian | Hepatosplenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
| 106956 | M | 216197 | - | Abnormal lymphoproliferation | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P12] | |
| 106957 | F | 216198 | - | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P13] | |
| 107242 | M | 216394 |
7 | Caucasian | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33651637 [Patient 3]; PMID:30809743 [Fam.2:II.2(Pt#3)] |
| 107245 | M | 216394 |
- | Caucasian | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Fam.2:II.1(Pt#2)] |
| 107246 | M | 216395 | 2 | Caucasian | Hepatosplenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Pt#1] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).