Splenomegaly
Basic details
Preferred term: Splenomegaly
Alt. terms: enlarged spleen | spleen enlargement
HPO term: Splenomegaly
HPO code: HP:0001744
GenIA ID: 25
Last updated on: 2021-12-10 11:55:38
Cross ref. with other ontologies
NCIT: C3384
MESH: D013163
EFO: -
OAE:0001418
SNOMEDCT: -
ICD10: R16.1
Description
Abnormally increased size of the spleen.
Hierarchical classification
TERM
Splenomegaly
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,Splenomegaly | 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 | - | German | Splenomegaly | PMID:34975878 [Fam.F003:P003] | |
101019 | F | 210316 | 54 | German | Splenomegaly | PMID:34975878 [Fam.F004:P004] | |
101020 | F | 210008![]() |
- | German | Splenomegaly | NFKB1 insufficiency | PMID:34975878 [Fam.F005:P005]; PMID:32278790 [Fam.AU:II.3(II.3)]; PMID:29403474 [Patient 28 (11)]; PMID:150198 [Fam.AM:II.4(157)]; PMID:27461466 [Fam.199_01:28] |
101021 | M | 210359 | 36 | German | Splenomegaly | PMID:34975878 [Fam.F006:P006] | |
101022 | M | 210482 | 26 | German | Splenomegaly | PMID:34975878 [Fam.F007:P007] | |
101024 | F | 210927 | - | Splenomegaly | PMID:34975878 [Fam.F009:P009] | ||
101026 | M | 210215 | 34 | Splenomegaly | PMID:34975878 [Fam.F011:P011] | ||
101037 | M | 210182![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
101043 | M | 210725![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101045 | M | 210205![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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,Splenomegaly | 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)] |
101053 | F | 211287 | 36 | Splenomegaly | PMID:34975878 [Fam.F022:P022] | ||
101059 | M | 211386 | - | Splenomegaly | PMID:34975878 [Fam.F030:P030]; PMID:31057532 [Fam.F:II.1] | ||
101076 | F | 210226 | 9 | German | Splenomegaly | PMID:34975878 [Fam.F041:P041] | |
101077 | F | 210211 | -,12 | German | Abnormal lymphoproliferation,Splenomegaly | PMID:34975878 [Fam.F043:P043] | |
101078 | F | 211301 | 53 | Splenomegaly | PMID:34975878 [Fam.F044:P044] | ||
101080 | F | 211150 | 64 | Splenomegaly | PMID:34975878 [Fam.F046:P046] | ||
101081 | F | 211315 | 24 | Splenomegaly | PMID:34975878 [Fam.F047:P047] | ||
101082 | F | 211226 | - | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
101083 | M | 210479 | 38 | German | Splenomegaly | PMID:34975878 [Fam.F049:P049] | |
101085 | F | 210196 | 36 | Splenomegaly | PMID:34975878 [Fam.F051:P051] | ||
101087 | M | 211335 | 33 | German | Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F053:P053] |
101089 | M | 211033 | 20 | Splenomegaly | PMID:34975878 [Fam.F055:P055] | ||
101091 | M | 210911 | -,14 | Abnormal lymphoproliferation,Splenomegaly | DiGeorge syndrome | PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180] | |
101093 | M | 211289 | 29 | German | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
101095 | M | 210286 | 4 | Splenomegaly | PMID:34975878 [Fam.F060:P060] | ||
101101 | M | 211414 | - | Splenomegaly | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.G:II.1] | |
101102 | M | 211415 | - | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F064:P064] | |
101103 | F | 211424 | - | Splenomegaly | PMID:34975878 [Fam.F065:P065] | ||
101115 | F | 210778 | - | Caucasian | Splenomegaly | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101116 | M | 210282![]() |
34,- | German | Abnormal lymphoproliferation,Splenomegaly | 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,Splenomegaly | PMID:34975878 [Fam.F070:P070] | ||
101120 | M | 210221 | -,52 | German | Abnormal lymphoproliferation,Splenomegaly | PMID:34975878 [Fam.F071:P071] | |
101121 | M | 210784 | 44 | German | Splenomegaly | PMID:34975878 [Fam.F072:P072] | |
101122 | M | 210197![]() |
19,23 | Italian | Abnormal lymphoproliferation,Splenomegaly | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
101123 | M | 210255 | 8,- | Abnormal lymphoproliferation,Splenomegaly | PMID:34975878 [Fam.F074:P074] | ||
101124 | F | 210216 | 59 | German | Splenomegaly | PMID:34975878 [Fam.F075:P075] | |
101125 | M | 210429 | 40 | German | Splenomegaly | Immunodeficiency, common variable, 1 | PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060] |
101127 | F | 210318 | 44 | German | Splenomegaly | PMID:34975878 [Fam.F077:P077] | |
101128 | M | 210897 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07] |
101130 | F | 210465 | 30 | German | Splenomegaly | PMID:34975878 [Fam.F079:P079] | |
101131 | F | 210337 | 58 | German | Splenomegaly | PMID:34975878 [Fam.F080:P080] | |
101133 | M | 210896 | 19 | Splenomegaly | Immunodeficiency, common variable, 13 | PMID:34975878 [Fam.F082:P082] | |
101134 | F | 210901 | 39 | Splenomegaly | PMID:34975878 [Fam.F083:P083] | ||
101135 | F | 210574 | 17 | Splenomegaly | PMID:34975878 [Fam.F084:P084] | ||
101136 | M | 210356 | - | Splenomegaly | PMID:34975878 [Fam.F085:P085] | ||
101145 | M | 211221![]() |
20 | German | Splenomegaly | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.5(Pat4)]; PMID:150198 [Fam.DV:III.5(531)]; PMID:36105815 [Fam.Y350C:III.5(Y350C/4)] |
101146 | F | 211132 | - | German | Splenomegaly | PMID:34975878 [Fam.F089:P089] | |
101150 | F | 210736 | -,7 | Abnormal lymphoproliferation,Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F093:P093] | |
101155 | M | 210235 | -,- | German | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098] |
101159 | M | 211131 | - | Splenomegaly | PMID:34975878 [Fam.F100:P100] | ||
101160 | F | 211433 | - | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F101:P101] | |
101161 | M | 211455 | - | Splenomegaly | PMID:34975878 [Fam.F102:P102] | ||
101162 | F | 211457 | - | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F103:P103] | |
101165 | M | 211461 | - | Splenomegaly | PMID:34975878 [Fam.F106:P106] | ||
101167 | M | 211470![]() |
- | Splenomegaly | NFKB1 insufficiency | PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)] | |
101178 | M | 210542 | 21 | Splenomegaly | PMID:34975878 [Fam.F114:P114] | ||
101181 | F | 211169 | - | Splenomegaly | PMID:34975878 [Fam.F115:P115] | ||
101189 | M | 211486 | - | Splenomegaly | PMID:34975878 [Fam.F120:P120] | ||
101199 | F | 211483 | -,- | German | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101203 | M | 211488 | - | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F125:P125] | |
101204 | M | 211492 | 56 | German | Splenomegaly | PMID:34975878 [Fam.F126:P126] | |
101207 | F | 211502 | - | Splenomegaly | PMID:34975878 [Fam.F130:P130] | ||
101260 | M | 212144 | 7 | Iranian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
101312 | M | 212149 | 10 | Lebanese | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.1(P2)]; PMID:26707784 [P16] |
101313 | F | 212149 | 10 | Lebanese | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17] |
101328 | M | 212151 | - | Moroccan | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.2:II.1(2.2)] |
101336 | M | 212152 | -,- | Omani | Abnormal lymphoproliferation,Splenomegaly | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
101369 | M | 212161 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:30479781 [P1(V.1)] |
101371 | M | 212161 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:30479781 [Fam.P1:V.2(P2)] |
101375 | F | 212162 | 3 | Iranian | Splenomegaly | 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 | 6 | Iranian | Splenomegaly | 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 | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10] |
101382 | M | 210641 | 46 | German | Splenomegaly | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.3(II.3)]; PMID:16384931 [Fam.C:II.3(P5)]; PMID:19426217 [Fam.C:II.3(P5)]; PMID:28861081 [Fam.3:II.3(P5)] |
101384 | M | 210217 | - | German | Splenomegaly | NFKB1 insufficiency | PMID:34975878 [Fam.F134:P134]; PMID:32278790 [BN.I.1]; PMID:150198 [Fam.CZ:445]; PMID:36105815 [Y90S] |
101385 | M | 210567 | - | German | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F135:P135]; PMID:31857261 [Patient 9] |
101386 | F | 212164 | 4 | Pakistani | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:22981790 [P1(II.1)]; PMID:26707784 [P11] |
101388 | M | 212165 | 3 | Palestinian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.1:P1]; PMID:26707784 [P20] |
101389 | M | 212166 | 7 | Palestinian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.2:II.1(P2)]; PMID:26707784 [P21] |
101391 | F | 211018 | - | Splenomegaly | PMID:34975878 [Fam.F137:P137] | ||
101392 | M | 212166 | 2 | Palestinian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.2:II.3(P4)]; PMID:26707784 [P23] |
101399 | F | 210189![]() |
6 | German | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
101401 | F | 210205![]() |
-,17 | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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)] |
101402 | M | 210690 | - | German | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F138:P138] |
101403 | M | 210189![]() |
- | German | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
101404 | M | 210348 | 17 | Splenomegaly | PMID:34975878 [Fam.F139:P139] | ||
101408 | M | 212168 | 5 | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:27057999 [Fam.II.2:II.1] | |
101410 | F | 210902 | - | German | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F141:P141]; PMID:28493328 [P4] |
101416 | M | 212169 | 7 | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:27146671 [Patient(II.1)] |
101421 | F | 212170 | 6 | Iranian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
101424 | M | 212172 | - | Iranian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 6]; PMID:26707784 [Fam.D:IV.1(P27)]; PMID:26993986 [F8]; PMID:28512785 [P13] |
101425 | M | 210205![]() |
60,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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 | Splenomegaly | 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 | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26707784 [P29(II.1)] |
101441 | M | 212174 | 8 | North American | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26206937 [P6] |
101442 | F | 210471 | - | Splenomegaly | PMID:34975878 [Fam.F144:P144] | ||
101443 | M | 212175 | - | North American | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26206937 [P7] |
101444 | F | 210640 | - | Splenomegaly | PMID:34975878 [Fam.F145:P145] | ||
101450 | F | 210409 | - | German | Splenomegaly | PMID:34975878 [Fam.F149:P149] | |
101453 | F | 210192 | - | German | Splenomegaly | Immunodeficiency, common variable, 13 | PMID:34975878 [Fam.F150:P150]; PMID:31057532 [Fam.A:I.2] |
101458 | F | 210656![]() |
-,- | Georgian | Abnormal lymphoproliferation,Splenomegaly | 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 | Splenomegaly | 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 | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F154:P154] | |
101469 | F | 210220![]() |
16 | German | Splenomegaly | 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 | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:30386343 [Patient(II.1)] |
101478 | F | 210353 | - | Splenomegaly | PMID:34975878 [Fam.F159:P159] | ||
101479 | F | 210314![]() |
- | German | Splenomegaly | NFKB1 insufficiency | PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)] |
101482 | M | 210462 | - | German | Splenomegaly | PMID:34975878 [Fam.F161:P161] | |
101488 | M | 210401![]() |
46 | German | Splenomegaly | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
101492 | M | 210594 | 32 | German | Splenomegaly | NFKB1 insufficiency | PMID:34975878 [Fam.F165:P165] |
101504 | F | 211125 | - | Splenomegaly | PMID:34975878 [Fam.F169:P169] | ||
101507 | M | 210508 | - | German | Splenomegaly | PMID:34975878 [Fam.F171:P171] | |
101511 | M | 212459 | - | British | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.3(P2)] |
101512 | M | 212459 | - | British | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.4(P3)] |
101524 | F | 210020![]() |
- | German | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.105:II.1(P1)]; PMID:34975878 [Fam.F173:P173] |
101529 | M | 211278 | 14 | Splenomegaly | PMID:34975878 [Fam.F176:P176] | ||
101530 | M | 212460 | - | British | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.3(P5)] |
101532 | F | 212460 | - | British | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.5(P6)] |
101535 | M | 210775 | - | Splenomegaly | PMID:34975878 [Fam.F177:P177] | ||
101537 | M | 210949 | 33 | Splenomegaly | PMID:34975878 [Fam.F178:P178] | ||
101538 | F | 212460 | - | British | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.3(P7)] |
101541 | M | 212461 | - | Slovenian | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.C:II.1(P8)] |
101544 | F | 211170 | - | Splenomegaly | PMID:34975878 [Fam.F180:P180] | ||
101548 | M | 212462 | - | Irish | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:III.1(P9)] |
101549 | F | 212463 | - | British | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:I.1(P13)] |
101552 | M | 212464 | - | French | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.F:II.1(P14)] |
101553 | M | 210256 | - | German | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
101556 | F | 211086 | - | Splenomegaly | PMID:34975878 [Fam.F184:P184] | ||
101560 | M | 212465 | - | French | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.2(P15)] |
101561 | F | 212465 | - | French | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.3(P16)] |
101569 | F | 210220![]() |
- | German | Splenomegaly | 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 | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F196:P196] | |
101575 | M | 210900 | - | German | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2] |
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)] |
101579 | F | 210773 | - | Turkish | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [P1]; PMID:31857261 [Patient 13] |
101586 | F | 210642 | - | Splenomegaly | PMID:34975878 [Fam.F204:P204] | ||
101588 | M | 210935 | 42 | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F206:P206] | |
101613 | F | 210737 | 6,6 | Abnormal lymphoproliferation,Splenomegaly | PMID:34975878 [Fam.F210:P210] | ||
101617 | M | 210994 | 52 | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F212:P212] | |
101628 | F | 210955 | - | Caucasian | Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:I.2(128)]; PMID:34975878 [Fam.F217:P217] |
101642 | M | 210915 | - | Splenomegaly | PMID:34975878 [Fam.F223:P223] | ||
101648 | M | 211026 | - | Splenomegaly | PMID:34975878 [Fam.F225:P225] | ||
101651 | M | 210939 | 28 | Splenomegaly | PMID:34975878 [Fam.F226:P226] | ||
101656 | F | 211483 | - | German | Splenomegaly | PMID:34975878 [Fam.F227:P227] | |
101663 | M | 211078 | - | Splenomegaly | PMID:34975878 [Fam.F231:P231] | ||
101664 | M | 211085 | - | Splenomegaly | PMID:34975878 [Fam.F232:P232] | ||
101669 | M | 211549 | - | Splenomegaly | PMID:34975878 [Fam.F234:P234] | ||
101673 | M | 211156 | - | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
101706 | F | 211545 | - | Splenomegaly | PMID:34975878 [Fam.F245:P245] | ||
101708 | F | 211547 | - | Splenomegaly | PMID:34975878 [Fam.F246:P246] | ||
101717 | F | 210260![]() |
-,7 | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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)] |
101719 | F | 210022 | - | Iranian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.1(P4)]; PMID:25539626 [Fam.P1:II.2(P2)]; PMID:26707784 [P13] |
101722 | F | 210261![]() |
-,- | Asian | Abnormal lymphoproliferation,Splenomegaly | 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,Splenomegaly | 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)] |
101748 | F | 210573 | - | Splenomegaly | PMID:34975878 [Fam.F248:P248] | ||
101753 | M | 210024 | - | Japanese | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
101756 | F | 210025 | 4 | North American | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)] |
101757 | M | 210026 | 11 | North American | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.605:P14]; PMID:26206937 [P3] |
101758 | M | 210027 | 10 | North American | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.606:P15]; PMID:26206937 [P5] |
101759 | F | 210028 | - | North American | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.607:P16]; PMID:26206937 [P4] |
101764 | F | 210031 | - | Dutch | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
101767 | F | 210788 | 49 | Splenomegaly | PMID:34975878 [Fam.F249:P249] | ||
101768 | M | 210789 | 36 | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
101772 | M | 210034 | - | Iranian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.773:P22]; PMID:29528757 [Case 9]; PMID:28512785 [P17] |
101775 | M | 210908![]() |
- | Argentinian | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101776 | M | 210912 | - | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F251:P251] | |
101777 | F | 210920 | - | Libyan | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26745254 [P1(II.1)] |
101788 | M | 210950![]() |
- | Swiss | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [P7(II.1)] |
101789 | M | 210950![]() |
- | Swiss | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P7:II.2(P8)] |
101792 | M | 210991 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9(92))] |
101793 | M | 211028 | - | Splenomegaly | PMID:34975878 [Fam.F256:P256] | ||
101794 | F | 211030 | - | Italian | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
101797 | M | 211108 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
101798 | M | 211117 | - | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [P11] | |
101799 | M | 211120 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)] |
101800 | M | 215769![]() |
-,13 | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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)] |
101801 | M | 211151 | - | Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
101802 | F | 211221![]() |
- | German | Splenomegaly | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
101807 | F | 211431 | - | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F264:P264] | |
101808 | F | 211441 | - | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F265:P265] | |
101813 | F | 211525 | - | Splenomegaly | PMID:34975878 [Fam.F273:P273] | ||
101814 | F | 211527 | - | German | Splenomegaly | NFKB1 insufficiency | PMID:34975878 [Fam.F274:P274]; PMID:32278790 [AK.I.1]; PMID:150198 [Fam.CP:435] |
101815 | M | 211528 | - | Splenomegaly | PMID:34975878 [Fam.F275:P275] | ||
101821 | F | 210122 | - | Splenomegaly | PMID:34390440 [NEG027] | ||
101826 | F | 211561 | - | German | Splenomegaly | PMID:34975878 [Fam.F290:P290] | |
101827 | M | 211564 | 1 | Splenomegaly | PMID:34975878 [Fam.F291:P291] | ||
101829 | M | 211577 | - | Splenomegaly | PMID:34975878 [Fam.F293:P293] | ||
101833 | M | 210887 | - | Splenomegaly | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
101839 | F | 210913 | - | Splenomegaly | PMID:34975878 [Fam.F300:P300] | ||
101840 | F | 211591 | - | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
101843 | M | 211371 | - | German | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F404:P404] |
101849 | F | 211636 | - | Splenomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F311:P311] | |
101871 | F | 210078 | - | Turkish | Splenomegaly | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [CMC03] |
101877 | M | 211741 | - | Splenomegaly | PMID:34975878 [Fam.F321:P321] | ||
101900 | M | 211773 | - | Splenomegaly | PMID:34975878 [Fam.F331:P331] | ||
101913 | M | 211925 | - | Splenomegaly | PMID:34975878 [Fam.F340:P340] | ||
101915 | F | 211935 | 34 | Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] | |
101950 | F | 212045 | - | Splenomegaly | PMID:34975878 [Fam.F372:P372] | ||
101951 | M | 212062 | - | Splenomegaly | PMID:34975878 [Fam.F375:P375] | ||
101959 | M | 210641 | 41 | German | Splenomegaly | 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)] |
102074 | F | 214294 | - | Egyptian | Splenomegaly | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES27]; PMID:32738296 [P2] |
102082 | U | 214302 | - | Egyptian | Splenomegaly | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES11] |
102116 | M | 212357 | - | Egyptian | Splenomegaly | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES05] |
102157 | F | 214681 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
102175 | M | 210725![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102180 | F | 214912 | - | Chinese (China) | Splenomegaly | Severe combined immunodeficiency 9A, T-B- | PMID:26476733 [P7] |
102222 | M | 214917 | - | German | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102223 | F | 214918 | 56 | German | Splenomegaly | Familial autoinflammatory Behcet-like syndrome | PMID:35486341 [P191] |
102224 | F | 214919 | - | German | Abnormal lymphoproliferation | DiGeorge syndrome | PMID:35486341 [P017] |
102225 | M | 214920 | - | Romanian | Splenomegaly | Immunodeficiency 40 | PMID:35486341 [P063] |
102226 | F | 214921 | - | Russian | Splenomegaly | Activated p110-d syndrome 2 | PMID:35486341 [P094] |
102262 | F | 214927![]() |
- | Japanese | Splenomegaly | OAS1 immunodeficiency | PMID:29455859 [Fam.C:II.1]; PMID:34145065 [P5(II.1)]; PMID:29185156 [P2] |
102267 | M | 214928![]() |
- | Japanese | Splenomegaly | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.1] |
102269 | M | 214928![]() |
- | Japanese | Splenomegaly | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.3] |
102270 | F | 214928![]() |
- | Japanese | Splenomegaly | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
102509 | M | 214948![]() |
2 | Irish Traveller | Splenomegaly | 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)] | |
102641 | M | 214973![]() |
5 | European | Splenomegaly | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.5:II.2(P5)] |
102984 | F | 215074![]() |
9 | European/American | Splenomegaly | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
103292 | F | 215114 | - | German | Splenomegaly | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
103293 | M | 215115 | 44 | Splenomegaly | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P6] | |
103830 | F | 215256![]() |
- | European | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.1:II.2(P1)] |
103834 | F | 215257![]() |
- | European | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.2:II.3(P2)] |
103839 | M | 215258![]() |
- | European | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.3:II.3(P3)] |
103844 | F | 215259![]() |
- | European | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.4:II.2(P4)] |
103848 | M | 215260![]() |
- | European | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.5:II.1(P5)] |
103851 | M | 215261![]() |
- | British | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.6:II.2(P6)] |
103859 | M | 215263![]() |
- | Turkish | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5] |
103880 | F | 215269![]() |
6 | Finnish | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
104268 | M | 215444![]() |
31 | Ashkenazi Jewish | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
104540 | M | 215549![]() |
-,- | North African | Abnormal lymphoproliferation,Splenomegaly | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
104583 | F | 215554![]() |
1 | Arab | Splenomegaly | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:30804083 [Patient(III.2)]; PMID:35587511 [Fam.K:II.2(4)]; PMID:38914362 [Fam.D:IV.2(049)] |
104607 | M | 215556![]() |
- | Splenomegaly | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.A:II.3(P1)] | |
104630 | M | 215560![]() |
- | Splenomegaly | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.C:II.2(P3)] | |
104741 | M | 215572![]() |
- | French | Splenomegaly | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.6] |
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![]() |
- | Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
104791 | M | 215575![]() |
14,- | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)] | |
104796 | M | 215577![]() |
- | Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)] | |
104797 | M | 215577![]() |
- | Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
104838 | M | 215578![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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 | Splenomegaly | 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,Splenomegaly | Omenn syndrome 2 | PMID:30307608 [2] |
104848 | F | 215582 | 0 | Egyptian | Splenomegaly | Omenn syndrome 2 | PMID:30307608 [3] |
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,Splenomegaly | 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,Splenomegaly | 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 | Splenomegaly | 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)] |
105043 | F | 215630![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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)] |
105093 | F | 215639![]() |
- | Israeli | Splenomegaly | 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)] |
105102 | M | 215640![]() |
10 | European | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)] |
105105 | F | 215643![]() |
18 | Caucasian | Splenomegaly | 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 | - | Splenomegaly | NFKB1 insufficiency | PMID:27379089 [P4]; PMID:32278790 [AR.I.4]; PMID:29403474 [Patient 4 (10)]; PMID:150198 [Fam.AI:146] | |
105129 | M | 215647![]() |
- | Splenomegaly | NFKB1 insufficiency | PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] | |
105131 | M | 215648 | - | Italian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [BG.I.1]; PMID:29403474 [Patient 1 (6)]; PMID:27923702 [Patient 1]; PMID:27555455 [Patient 1]; PMID:150198 [Fam.AN:160] |
105142 | M | 210314![]() |
- | German | Splenomegaly | 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 | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
105152 | F | 215655![]() |
- | Spanish | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [V.I.1]; PMID:29403474 [Patient 26 (11)]; PMID:150198 [Fam.AK:I.2(149)]; PMID:27461466 [Fam.827_01:26] |
105172 | M | 215659 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105194 | M | 215665![]() |
2 | Iranian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
105245 | M | 215674![]() |
- | Caucasian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [Fam.AN:II.2(II.1)]; PMID:29403474 [Fam.(12):I.1(P9.1)]; PMID:28983403 [Fam.1:I.1(P9.1)]; PMID:150198 [Fam.AT:II.1(223)] |
105246 | M | 215674![]() |
- | Caucasian | Splenomegaly | 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)] |
105249 | M | 215676 | 3,3 | Turkish | Abnormal lymphoproliferation,Splenomegaly | Immunodeficiency, common variable, 8 | PMID:28956255 [Fam.P2:II.2] |
105256 | F | 210008![]() |
- | German | Splenomegaly | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105280 | M | 215685![]() |
- | European | Splenomegaly | 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 | Splenomegaly | 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)] |
105308 | F | 215687![]() |
- | European | Splenomegaly | 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![]() |
-,7 | European | Abnormal lymphoproliferation,Splenomegaly | 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)] |
105315 | F | 215690 | - | European | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S] |
105316 | U | 215691 | - | European | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
105332 | U | 215694 | - | European | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105333 | F | 215695 | - | European | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [N.II.1]; PMID:29477724 [Fam.N:II.1(II:1)]; PMID:150198 [Fam.BH:286] |
105335 | U | 215697 | - | European | Splenomegaly | 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)] |
105337 | U | 215699 | - | European | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268] |
105338 | U | 215700 | - | European | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
105353 | F | 215715 | 10 | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:26686526 [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,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)] |
105377 | F | 215728 | 30 | Splenomegaly | Immunodeficiency 84 | PMID:35444653 [p1] | |
105388 | M | 215739 | - | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:31238161 [Fam.F1:P1] | |
105406 | M | 215757 | 3 | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31876783 [Patient 1] | |
105412 | F | 215762![]() |
27 | Caucasian | Splenomegaly | 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)] |
105416 | F | 215764![]() |
- | Chinese (China) | Splenomegaly | NFKB1 insufficiency | PMID:30363934 [case 3(I.2)]; PMID:150198 [Fam.BN:I.2(303)] |
105424 | M | 215766![]() |
-,- | Admixed | Abnormal lymphoproliferation,Splenomegaly | 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,Splenomegaly | 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)] |
105433 | F | 215768![]() |
- | Danish | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y] |
105450 | F | 215770![]() |
- | Caucasian | Splenomegaly | 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] |
105453 | M | 215771![]() |
42 | Caucasian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [BO.I.2]; PMID:150198 [Fam.BV:II.3(342)]; PMID:31803180 [Fam.E:II.3(S8)]; PMID:36105815 [Fam.R157P:II.3(S8)] |
105458 | M | 215771![]() |
- | Caucasian | Splenomegaly | 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] |
105463 | M | 215772![]() |
- | Russian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [AO.I.1]; PMID:150198 [Fam.BS:I.1(317)]; PMID:31803180 [Fam.B:I.1(S2)]; PMID:34619682 [P.122] |
105471 | M | 215775![]() |
2 | Filipino | Splenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T] |
105533 | M | 215791 | - | Portuguese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105543 | M | 215797 | - | Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P7] | |
105546 | M | 215800![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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 | Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:IV.1(P1)] |
105562 | M | 215805 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
105563 | F | 215806 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31026575 [P2]; PMID:31432443 [P6(II.1)] |
105564 | M | 215807![]() |
19,3 | Spanish | Abnormal lymphoproliferation,Splenomegaly | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
105567 | M | 215808 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31026575 [P3]; PMID:31432443 [P12] |
105571 | U | 215810 | - | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24698326 [P3] | |
105586 | M | 215819 | 9 | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:33717114 [Patient] | |
105587 | F | 215820 | 3 | Caucasian | Splenomegaly | Activated p110-delta syndrome 1 | PMID:24610295 [Fam.1:II.1(F1P1)] |
105635 | F | 215829 | 9 | Caucasian | Abnormal lymphoproliferation | Activated p110-delta syndrome 1 | PMID:26371693 [1] |
105641 | F | 215831![]() |
- | Chinese (China) | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:30363934 [case 1(I.2)] |
105649 | F | 215834![]() |
- | Spanish | Splenomegaly | NFKB1 insufficiency | PMID:29867916 [N234]; PMID:32278790 [Fam.AV:II.1(II.1)]; PMID:150198 [Fam.BL:II.1(294)] |
105657 | F | 215835 | - | Splenomegaly | Activated p110-delta syndrome 1 | PMID:27379089 [11] | |
105658 | M | 215836 | - | Splenomegaly | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.1(Sibling 1)] | |
105660 | F | 215836 | - | Splenomegaly | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.3(Sibling 3)] | |
105671 | M | 215837![]() |
- | Spanish | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
105676 | M | 215838![]() |
- | Ecuadorian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)] |
105679 | M | 215839![]() |
33 | Caucasian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
105691 | M | 215841![]() |
- | Australian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [Fam.W:I.1(W.I.1)]; PMID:150198 [Fam.CF:I.1(418)] |
105714 | M | 211370![]() |
- | Turkish | Splenomegaly | 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 | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
105740 | U | 215845 | - | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
105741 | F | 215846 | - | Indian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [T.I.1]; PMID:150198 [Fam.CJ:426] |
105742 | F | 215847 | - | Brasilian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428] |
105744 | M | 215849 | - | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433] | |
105745 | M | 215850 | - | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
105746 | M | 215851![]() |
57 | Finnish | Splenomegaly | Immunodeficiency, common variable, 14 | PMID:34451894 [Patient(II.2)]; PMID:37876937 [Fam.C:II.2(C.1)] |
105747 | F | 215852![]() |
- | Dutch | Splenomegaly | 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,Splenomegaly | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
105751 | M | 215854 | - | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
105752 | M | 215855 | - | Russian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438] |
105755 | F | 215858 | - | Russian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441] |
105756 | F | 215859 | - | Portuguese | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
105758 | M | 215861 | - | Iranian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
105762 | F | 215863 | - | Iranian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446] |
105773 | M | 215866 | 63 | German | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
105774 | F | 215867 | - | German | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [BV.I.1]; PMID:150198 [Fam.DG:464]; PMID:36105815 [P246T] |
105775 | F | 215868 | - | German | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
105776 | M | 215869 | - | Iranian | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1] |
105778 | F | 215871![]() |
10 | Spanish | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)] |
105780 | F | 215873 | - | German | Splenomegaly | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
105827 | M | 215884 | 8 | German | Splenomegaly | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.Sporadic patien:Sporadic patient 1] |
105830 | M | 215887 | 2 | Polish | Splenomegaly | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.2 Sporadic pati:2 Sporadic patient 2] |
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,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))] |
105985 | F | 215920 | -,- | Japanese | Abnormal lymphoproliferation,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))] |
106047 | F | 215930 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106057 | F | 210991 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
106094 | M | 215947 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))] |
106097 | M | 215948 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.WW:II.1(WW.II.1 (125))] |
106099 | M | 210955 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))] |
106105 | M | 215950 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
106109 | M | 215952![]() |
-,- | Iranian | Abnormal lymphoproliferation,Splenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
106157 | M | 215956 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31432443 [P1] |
106158 | M | 215957 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:28956255 [P5(II.2)]; PMID:31432443 [P2(II.2)] |
106161 | M | 215960 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31432443 [P5] |
106163 | M | 215806 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31432443 [Fam.P6:II.2(P7)] |
106164 | M | 215963 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31432443 [P8] |
106165 | M | 215964 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31432443 [P9] |
106167 | F | 215966 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31432443 [P11] |
106169 | F | 215968 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31432443 [P13] |
106170 | F | 215969 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31432443 [P14] |
106171 | F | 215970 | - | Turkish | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:31432443 [P15] |
106172 | F | 215971 | - | German | Splenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.FI:660]; GRID:001142 [FR302] |
106223 | M | 215976![]() |
44 | Finnish | Splenomegaly | 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)] |
106246 | F | 215977 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | 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,Splenomegaly | 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,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)] |
106282 | M | 215979![]() |
- | Caucasian | Splenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.FZ:III.1(792)]; PMID:38593810 [Fam.6:II.1(F6.II-1)] |
106304 | M | 215981![]() |
- | Chinese (China) | Splenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])] |
106313 | F | 215982 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106314 | M | 215983 | -,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P2] |
106352 | M | 215998![]() |
- | Splenomegaly | Activated p110-d syndrome 2 | PMID:34922003 [Fam.B:II.1(B1)] | |
106363 | F | 216001![]() |
0 | Argentinian | Splenomegaly | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
106371 | M | 216004 | 22,22 | Abnormal lymphoproliferation,Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)] | |
106455 | M | 216019 | - | Egyptian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:32506362 [P4] |
106459 | M | 216021![]() |
19 | Splenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband] | |
106472 | M | 216026 | - | Egyptian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:32506362 [P7(II.1)] |
106474 | M | 216027 | - | Egyptian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:32506362 [P9] |
106476 | M | 216029 | - | Egyptian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:32506362 [P11] |
106477 | M | 216030 | - | Egyptian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:32506362 [P12] |
106482 | F | 216035 | - | Egyptian | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:32506362 [P17] |
106495 | F | 216045 | 2 | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:33178652 [Patient] | |
106547 | M | 216075![]() |
- | Dutch | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.C:II.1(P4)]; PMID:25888558 [Fam.1:III.1(P1)] |
106551 | M | 216075![]() |
- | Dutch | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.C:II.2(P5)]; PMID:25888558 [Fam.1:III.2(P2)] |
106555 | M | 216078![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Splenomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
106562 | M | 216079![]() |
6 | Caucasian | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.B:IV.1(P3)] |
106577 | F | 216081![]() |
- | Caucasian | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.D:II.2(P6)] |
106592 | M | 216085 | 16,15 | Abnormal lymphoproliferation,Splenomegaly | 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] |
106637 | M | 216096![]() |
- | Danish | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32047491 [P3(II.1)] |
106646 | M | 216099 | 22 | Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34628649 [Patient(III.1)] | |
106675 | M | 216105 | 18 | Egyptian | Splenomegaly | NFKB1 insufficiency | PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158] |
106697 | F | 216110 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1] |
106700 | F | 216113 | 28 | Japanese | Splenomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.22:22.1]; PMID:34707038 [Patient(II.1)] |
106789 | M | 216140 | - | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.282] | |
106812 | F | 216158 | 15,13 | Abnormal lymphoproliferation,Splenomegaly | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
106816 | F | 216162 | - | Splenomegaly | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
106819 | M | 216163![]() |
-,- | Chinese (China) | Abnormal lymphoproliferation,Splenomegaly | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106867 | M | 216177 | 22 | Japanese | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.2:II.1(P2)] |
106871 | F | 216178 | - | Japanese | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.3:II.1(P4)] |
106912 | F | 216186 | 49,49 | Abnormal lymphoproliferation,Splenomegaly | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
106932 | M | 216188![]() |
5 | Jewish | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:25075848 [patient]; PMID:30139808 [Fam.1:II.5(P)] |
106956 | M | 216197 | -,- | Abnormal lymphoproliferation,Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P12] | |
106957 | F | 216198 | - | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P13] | |
106958 | M | 216199 | - | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P14] | |
106959 | M | 216200 | - | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P17]; PMID:35677041 [Pt9] | |
106981 | F | 216222 | - | Splenomegaly | T-cell LGL leukemia 1 | PMID:22591296 [P22] | |
106984 | M | 216225 | - | Splenomegaly | T-cell LGL leukemia 1 | PMID:22591296 [P25] | |
106985 | M | 216226 | - | Splenomegaly | T-cell LGL leukemia 1 | PMID:22591296 [P26] | |
107043 | M | 216282 | 4 | Splenomegaly | Activated p110-delta syndrome 1 | PMID:27444043 [P1] | |
107045 | M | 216284 | - | Splenomegaly | Activated p110-delta syndrome 1 | PMID:28428270 [P1] | |
107047 | F | 216286 | 8 | Splenomegaly | Activated p110-delta syndrome 1 | PMID:28428270 [P3] | |
107100 | M | 216334![]() |
2 | Japanese | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.5:II.1(P5.1)] |
107110 | M | 216339![]() |
4 | Indian | Splenomegaly | Autoinflammation with episodic fever and immune dysregulation | PMID:38609546 [P1(IV.2)] |
107161 | F | 216366![]() |
6 | Sri Lankan Tamil | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:26607704 [P1(II.1)] |
107164 | F | 216366![]() |
- | Sri Lankan Tamil | Splenomegaly | Adenosine deaminase 2 deficiency | PMID:26607704 [Fam.P1:II.2(P2)] |
107226 | M | 216382 | 7 | North American | Splenomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt6]; PMID:33651637 [Patient 2]; PMID:28349047 [Case] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).