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

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 210008tree icon - 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 210182tree icon -,- 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 210182tree icon - 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 210724tree icon -,- Caucasian Abnormal lymphoproliferation,Splenomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15]
101043 M 210725tree icon -,- Caucasian Abnormal lymphoproliferation,Splenomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017]
101045 M 210205tree icon -,- 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 210205tree icon -,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 210282tree icon 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 210197tree icon 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 211221tree icon 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 211470tree icon - 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 210189tree icon 6 German Splenomegaly Adenosine deaminase 2 deficiency PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)]
101401 F 210205tree icon -,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 210189tree icon - 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 210205tree icon 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 210656tree icon -,- 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 210220tree icon 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 210314tree icon - 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 210401tree icon 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 210020tree icon - 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 210220tree icon - 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 210205tree icon - 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 210260tree icon -,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 210261tree icon -,- 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 210182tree icon -,- 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 210908tree icon - 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 210950tree icon - Swiss Splenomegaly Adenosine deaminase 2 deficiency PMID:28493328 [P7(II.1)]
101789 M 210950tree icon - 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 215769tree icon -,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 211221tree icon - 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 210725tree icon -,- 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 214927tree icon - Japanese Splenomegaly OAS1 immunodeficiency PMID:29455859 [Fam.C:II.1]; PMID:34145065 [P5(II.1)]; PMID:29185156 [P2]
102267 M 214928tree icon - Japanese Splenomegaly OAS1 immunodeficiency PMID:29455859 [Fam.A:II.1]
102269 M 214928tree icon - Japanese Splenomegaly OAS1 immunodeficiency PMID:29455859 [Fam.A:II.3]
102270 F 214928tree icon - Japanese Splenomegaly OAS1 immunodeficiency PMID:29455859 [Fam.A:II.4]
102509 M 214948tree icon 2 Irish Traveller Splenomegaly Immunodeficiency 54 PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)]
102637 M 214972tree icon 24 Abnormal lymphoproliferation Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.4:II.2(P4)]
102641 M 214973tree icon 5 European Splenomegaly Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.5:II.2(P5)]
102984 F 215074tree icon 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 215256tree icon - European Splenomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.1:II.2(P1)]
103834 F 215257tree icon - European Splenomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.2:II.3(P2)]
103839 M 215258tree icon - European Splenomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.3:II.3(P3)]
103844 F 215259tree icon - European Splenomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.4:II.2(P4)]
103848 M 215260tree icon - European Splenomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.5:II.1(P5)]
103851 M 215261tree icon - British Splenomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.6:II.2(P6)]
103859 M 215263tree icon - Turkish Splenomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5]
103880 F 215269tree icon 6 Finnish Splenomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)]
104268 M 215444tree icon 31 Ashkenazi Jewish Splenomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28153428 [Patient(II.2)]
104540 M 215549tree icon -,- North African Abnormal lymphoproliferation,Splenomegaly X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.F:II.1(Patient F)]
104583 F 215554tree icon 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 215556tree icon - Splenomegaly X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.A:II.3(P1)]
104630 M 215560tree icon - Splenomegaly X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.C:II.2(P3)]
104741 M 215572tree icon - French Splenomegaly Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:III.6]
104787 M 215573tree icon - Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)]
104790 M 215574tree icon - Splenomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)]
104791 M 215575tree icon 14,- Abnormal lymphoproliferation,Splenomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)]
104796 M 215577tree icon - Splenomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)]
104797 M 215577tree icon - Splenomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)]
104838 M 215578tree icon -,- 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 215579tree icon - 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 215613tree icon -,- 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 215613tree icon -,- 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 215622tree icon - 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 215630tree icon -,- 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 215632tree icon 6 Abnormal lymphoproliferation Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28253502 [Fam.1:II.1(Patient 1)]
105057 F 215635tree icon 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 215639tree icon - 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 215640tree icon 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 215643tree icon 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 215647tree icon - 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 210314tree icon - 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 215655tree icon - 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 215665tree icon 2 Iranian Splenomegaly Immunodeficiency, common variable, 8 PMID:27888588 [Case(II.1)]
105245 M 215674tree icon - 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 215674tree icon - 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 210008tree icon - German Splenomegaly PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)]
105280 M 215685tree icon - 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 215686tree icon - 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 215687tree icon - 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 215688tree icon -,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 215762tree icon 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 215764tree icon - Chinese (China) Splenomegaly NFKB1 insufficiency PMID:30363934 [case 3(I.2)]; PMID:150198 [Fam.BN:I.2(303)]
105424 M 215766tree icon -,- 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 215766tree icon -,- 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 215768tree icon - 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 215770tree icon - 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 215771tree icon 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 215771tree icon - 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 215772tree icon - 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 215775tree icon 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 215800tree icon -,- 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 215807tree icon 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 215831tree icon - Chinese (China) Splenomegaly Immunodeficiency, common variable, 8 PMID:30363934 [case 1(I.2)]
105649 F 215834tree icon - 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 215837tree icon - Spanish Splenomegaly NFKB1 insufficiency PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)]
105676 M 215838tree icon - Ecuadorian Splenomegaly NFKB1 insufficiency PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)]
105679 M 215839tree icon 33 Caucasian Splenomegaly NFKB1 insufficiency PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)]
105691 M 215841tree icon - Australian Splenomegaly NFKB1 insufficiency PMID:32278790 [Fam.W:I.1(W.I.1)]; PMID:150198 [Fam.CF:I.1(418)]
105714 M 211370tree icon - 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 215851tree icon 57 Finnish Splenomegaly Immunodeficiency, common variable, 14 PMID:34451894 [Patient(II.2)]; PMID:37876937 [Fam.C:II.2(C.1)]
105747 F 215852tree icon - 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 215871tree icon 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 215894tree icon 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 215900tree icon 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 215921tree icon -,47 Abnormal lymphoproliferation,Splenomegaly NFKB1 insufficiency PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)]
106000 M 215922tree icon - 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 215952tree icon -,- 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 215976tree icon 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 215979tree icon - Caucasian Splenomegaly NFKB1 insufficiency PMID:150198 [Fam.FZ:III.1(792)]; PMID:38593810 [Fam.6:II.1(F6.II-1)]
106304 M 215981tree icon - 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 215998tree icon - Splenomegaly Activated p110-d syndrome 2 PMID:34922003 [Fam.B:II.1(B1)]
106363 F 216001tree icon 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 216021tree icon 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 216075tree icon - Dutch Splenomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.C:II.1(P4)]; PMID:25888558 [Fam.1:III.1(P1)]
106551 M 216075tree icon - Dutch Splenomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.C:II.2(P5)]; PMID:25888558 [Fam.1:III.2(P2)]
106555 M 216078tree icon -,- 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 216079tree icon 6 Caucasian Splenomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.B:IV.1(P3)]
106577 F 216081tree icon - 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 216096tree icon - 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 216163tree icon -,- 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 216188tree icon 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 216334tree icon 2 Japanese Splenomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [Fam.5:II.1(P5.1)]
107110 M 216339tree icon 4 Indian Splenomegaly Autoinflammation with episodic fever and immune dysregulation PMID:38609546 [P1(IV.2)]
107161 F 216366tree icon 6 Sri Lankan Tamil Splenomegaly Adenosine deaminase 2 deficiency PMID:26607704 [P1(II.1)]
107164 F 216366tree icon - 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).