Abnormal lymphoproliferation

Basic details

Preferred term: Abnormal lymphoproliferation
Alt. terms: lymphoproliferation

HPO term: Abnormal lymphocyte proliferation
HPO code: HP:0031378

GenIA ID: 26
Last updated on: 2024-09-17 15:40:22

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -

Description

Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.

Hierarchical classification

PARENT terms

TERM

Abnormal lymphoproliferation

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	-	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]
101023	M	210731	50	German	Lymphadenopathy		PMID:34975878 [Fam.F008:P008]
101024	F	210927	-		Splenomegaly		PMID:34975878 [Fam.F009:P009]
101026	M	210215	24		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	-		Splenomegaly		PMID:34975878 [Fam.F044:P044]
101080	F	211150	61		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	37	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]
101088	M	211560	-	German	Lymphadenopathy		PMID:34975878 [Fam.F054:P054]
101089	M	211033	20		Splenomegaly		PMID:34975878 [Fam.F055:P055]
101090	M	211257	30		Lymphadenopathy	CTLA4 haploinsufficiency with autoimmune infiltration	PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13]
101091	M	210911	-,14		Abnormal lymphoproliferation,Splenomegaly	DiGeorge syndrome	PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180]
101093	M	211289	-	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	-,35		Abnormal lymphoproliferation,Lymphadenopathy	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]
101147	F	211145	-		Lymphadenopathy		PMID:34975878 [Fam.F090:P090]
101150	F	210736	7,-		Abnormal lymphoproliferation,Splenomegaly	Immunodeficiency, common variable, 2	PMID:34975878 [Fam.F093:P093]
101154	F	210005	-		Lymphadenopathy		PMID:34975878 [Fam.F097:P097]
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	-		Splenomegaly		PMID:34975878 [Fam.F114:P114]
101181	F	211169	-		Splenomegaly		PMID:34975878 [Fam.F115:P115]
101189	M	211486	-		Splenomegaly		PMID:34975878 [Fam.F120:P120]
101194	M	212378	-	Egyptian	Hepatomegaly	Hyper-IgE recurrent infection syndrome 1	PMID:34390440 [HIES49]
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]
101343	M	210134	-	Italian	Lymphadenopathy	Immunodeficiency, common variable, 8	PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3]
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	-	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	-	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	-	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]
101452	M	212394	-	Iranian	Hepatosplenomegaly	Immunodeficiency, common variable, 8	PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33]
101453	F	210192	-	German	Splenomegaly	Immunodeficiency, common variable, 13	PMID:34975878 [Fam.F150:P150]; PMID:31057532 [Fam.A:I.2]
101457	F	211027	-		Lymphadenopathy		PMID:34975878 [Fam.F152:P152]
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	-		Splenomegaly	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:34975878 [Fam.F154:P154]
101469	F	210220	-	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]
101485	F	210498	-	German	Lymphadenopathy		PMID:34975878 [Fam.F162:P162]
101488	M	210401	-	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	-	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	-		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)]
101564	M	210361	-	German	Lymphadenopathy		PMID:34975878 [Fam.F187:P187]
101565	M	211008	-	Caucasian	Lymphadenopathy	NFKB1 insufficiency	PMID:34975878 [Fam.F188:P188]; PMID:32278790 [Fam.BS:II.1(II.1)]; PMID:150198 [Fam.DD:II.1(457)]; PMID:36105815 [Fam.M216V:II.1(M216V/1)]
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,Hepatomegaly	CTLA4 haploinsufficiency with autoimmune infiltration	PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)]
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]
101604	M	212620	-	Italian	Lymphadenopathy	ARPC1B deficiency	PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1]
101608	M	212621	-	Canadian	Lymphadenopathy	ARPC1B deficiency	PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3]
101611	M	212622	-	Colombian	Lymphadenopathy	ARPC1B deficiency	PMID:30254128 [Fam.D:II.4(P4)]
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]
101631	F	212624	-	Turkish	Lymphadenopathy	ARPC1B deficiency	PMID:30254128 [Fam.F:II.1(P6)]
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]
101693	M	212637	-	Nepalese	Lymphadenopathy	ARPC1B deficiency	PMID:30771411 [P14(II.1)]
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)]
101754	M	210024	-	Japanese	Lymphadenopathy	Immunodeficiency, common variable, 8	PMID:26768763 [Fam.553:II.2(P11)]
101755	M	210025	12	North American	Hepatomegaly	Immunodeficiency, common variable, 8	PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)]
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)]
101790	M	210960	-		Lymphadenopathy		PMID:34975878 [Fam.F254:P254]
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	-,-	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]
101817	F	211536	-		Lymphadenopathy		PMID:34975878 [Fam.F279:P279]
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]
101912	F	211848	-		Lymphadenopathy		PMID:34975878 [Fam.F338:P338]
101913	M	211925	-		Splenomegaly		PMID:34975878 [Fam.F340:P340]
101915	F	211935	34		Splenomegaly	CTLA4 haploinsufficiency with autoimmune infiltration	PMID:34975878 [Fam.F341:P341]
101949	M	211958	59		Lymphadenopathy		PMID:34975878 [Fam.F351:P351]
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)]
102058	M	214276	-	Iranian	Lymphadenopathy	Immunodeficiency 103, susceptibility to fungal infection	PMID:34390440 [HIES04]
102065	M	214285	-	Egyptian	Hepatomegaly	Hyper-IgE recurrent infection syndrome 2	PMID:34390440 [HIES23]
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]
102092	F	214311	-		Hepatomegaly	Hyper-IgE recurrent infection syndrome 1	PMID:34390440 [HIES48]
102116	M	212357	-	Egyptian	Splenomegaly	Hyper-IgE recurrent infection syndrome 2	PMID:34390440 [HIES05]
102121	M	214345	-	Egyptian	Hepatomegaly	Hyper-IgE recurrent infection syndrome 2	PMID:34390440 [HIES16]
102124	F	214351	-	Sudanese	Lymphadenopathy	Hyper-IgE recurrent infection syndrome 3	PMID:29907690 [Fam.B:IV.5(B.II.4)]
102129	F	214351	-	Sudanese	Lymphadenopathy	Hyper-IgE recurrent infection syndrome 3	PMID:29907690 [Fam.B:IV.1(B.II.1)]
102155	U	214597	-	Italian	Lymphadenopathy	Familial Cold Autoinflammatory Syndrome 2	PMID:21538323 [P2]
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]
102260	F	214926	-	Mexican	Decreased lymphocyte proliferation in response to mitogens	ARPC1B deficiency	PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)]
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]
102357	M	214937	-	German	Lymphadenopathy	Otofaciocervical syndrome 2	PMID:32111619 [Fam.A:II.1(P1)]
102374	M	214944	-	Saudi	Lymphadenopathy	Otofaciocervical syndrome 2	PMID:32111619 [Fam.C:V.I(P7)]
102466	M	214962	0	Polish	Hepatosplenomegaly	Immunodeficiency 94	PMID:33517393 [Patient(III.7)]
102509	M	214948	2	Irish Traveller	Splenomegaly	Immunodeficiency 54	PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)]
102626	M	214969	15	Filipino	Lymphadenopathy	Immunodeficiency 98 with autoinflammation, somatic	PMID:33512449 [Fam.1:II.1(P1)]
102630	M	214970	1	European	Hepatosplenomegaly	Immunodeficiency 98 with autoinflammation, somatic	PMID:33512449 [Fam.2:II.1(P2)]
102633	M	214971	7	European	Lymphadenopathy	Immunodeficiency 98 with autoinflammation, somatic	PMID:33512449 [Fam.3:II.1(P3)]
102637	M	214972	24		Abnormal lymphoproliferation	Immunodeficiency 98 with autoinflammation, somatic	PMID:33512449 [Fam.4:II.2(P4)]
102641	M	214973	-	European	Splenomegaly	Immunodeficiency 98 with autoinflammation, somatic	PMID:33512449 [Fam.5:II.2(P5)]
102645	M	214974	-	Caucasian	Lymphadenopathy	Immunodeficiency 98 with autoinflammation	PMID:33512449 [Fam.6:II.1(P6)]
102648	M	214975	-	Czech	Lymphadenopathy	Immunodeficiency 98 with autoinflammation	PMID:34981838 [Fam.1:II.1(Patient A)]
102649	M	214975	-	Czech	Lymphadenopathy	Immunodeficiency 98 with autoinflammation	PMID:34981838 [Fam.1:II.2(Patient B)]
102659	F	214979	1	Moroccan	Hepatosplenomegaly	Immunodeficiency 8	PMID:23522482 [P3(V.3)]
102661	F	214979	1	Moroccan	Lymphadenopathy	Immunodeficiency 8	PMID:23522482 [Fam.P3:V.2(P2)]
102719	F	214981	0	Canadian	Hepatosplenomegaly	Autoinflammation, immune dysregulation, and eosinophilia	PMID:28111307 [Fam.1:II.2(Patient)]; PMID:36546480 [Fam.1:II.2(II-2)]
102729	M	214981	0	Canadian	Hepatosplenomegaly	Autoinflammation, immune dysregulation, and eosinophilia	PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)]
102730	M	214981	0	Canadian	Hepatosplenomegaly	Autoinflammation, immune dysregulation, and eosinophilia	PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)]
102731	F	214982	8	Colombian	Lymphadenopathy	Immunodeficiency 99	PMID:32484799 [Patient(II.2)]
102735	F	214983	-	North American	Hepatosplenomegaly	Autoinflammation, immune dysregulation, and eosinophilia	PMID:32750333 [Patient(II.2)]
102739	F	214984	0	Japanese	Hepatosplenomegaly	Autoinflammation, immune dysregulation, and eosinophilia	PMID:35046931 [Patient(II.1)]
102803	F	214991	15	North American	Lymphadenopathy	Immunodeficiency 8	PMID:25073507 [P1(II.2)]
102819	M	214995	0		Hepatosplenomegaly	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency	PMID:14523047 [Patient(II.1)]
102871	F	215001	1	Italian	Lymphadenopathy	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	PMID:8911612 [A.D.]; PMID:10206641 [Patient(II.2)]; PMID:33464451 [P1(II.2)]; PMID:28077132 [Fam.1:II.2(P1)]
102901	F	215008	-	Brasilian	Lymphadenopathy	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	PMID:35064468 [patient(II.2)]
102913	M	215014	-		Abnormal B cell proliferation	T-cell lymphopenia with or without nail dystrophy, AD	PMID:31447097 [P3]
102969	U	215061	0	North American	Decreased lymphocyte proliferation in response to mitogens	T-cell lymphopenia with or without nail dystrophy, AD	PMID:31566583 [P4]; PMID:37419334 [P4]
102971	U	215063	0	North American	Decreased lymphocyte proliferation in response to mitogens	T-cell lymphopenia with or without nail dystrophy, AD	PMID:31566583 [P6]; PMID:37419334 [P6]
102972	U	215064	1	North American	Decreased lymphocyte proliferation in response to mitogens	T-cell lymphopenia with or without nail dystrophy, AD	PMID:31566583 [P7]; PMID:37419334 [P7]
102980	U	215072	0	North American	Decreased lymphocyte proliferation in response to mitogens	T-cell lymphopenia with or without nail dystrophy, AD	PMID:31566583 [P15]; PMID:37419334 [P15]
102984	F	215074	9	European/American	Splenomegaly	Immunodeficiency 97	PMID:31554793 [A.1(II.1)]
103051	M	215095	-	Finnish	Decreased lymphocyte proliferation in response to mitogens	Seizures, cortical blindness, microcephaly syndrome	PMID:33662367 [Fam.F1:II.7(P1)]
103061	M	215095	-	Finnish	Decreased lymphocyte proliferation in response to mitogens	Seizures, cortical blindness, microcephaly syndrome	PMID:33662367 [Fam.F1:II.9(P2)]
103062	M	215096	-	Finnish	Decreased lymphocyte proliferation in response to mitogens	Seizures, cortical blindness, microcephaly syndrome	PMID:33662367 [Fam.F2:II.2(P3)]
103076	F	215099	2	Omani	Hepatomegaly	Seizures, cortical blindness, microcephaly syndrome	PMID:33662367 [Fam.F5:V.5(P6)]
103110	M	215099	3	Omani	Decreased lymphocyte proliferation in response to mitogens	Seizures, cortical blindness, microcephaly syndrome	PMID:33662367 [Fam.F5:V.2(P7)]
103288	F	215113	-	Hungarian	Lymphadenopathy	Immunodeficiency 82 with systemic inflammation	PMID:33782605 [Fam.3:II.1(P4)]
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]
103454	M	215130	3	Saudi	Hepatomegaly	infantile-onset multisystem autoimmune disease-3	PMID:36006710 [Fam.2:II.2(P2)]
103473	F	215134	-	French	Lymphadenopathy	Immunodeficiency 55	PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)]
103477	F	215134	-	French	Lymphadenopathy	Immunodeficiency 55	PMID:28414293 [Fam.A:II.3(P2)]; PMID:14702466 [Fam.1:II.3(P2)]
103478	M	215135	-	French	Lymphadenopathy	Immunodeficiency 55	PMID:28414293 [Fam.B:II.1(P3)]
103482	F	215136	1	British	Lymphadenopathy	Immunodeficiency 55	PMID:28414293 [Fam.C:II.1(P4)]
103541	M	215155	-	Mexican	Hepatomegaly	ARPC1B deficiency	PMID:36708766 [Fam.B:II.1(P4)]
103542	M	215156	-	Mexican	Hepatosplenomegaly	ARPC1B deficiency	PMID:36708766 [Fam.C:II.3(P5)]
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]
103877	F	215266	2	Finnish	Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2]
103880	F	215269	6	Finnish	Splenomegaly	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)]
103997	M	215318	-		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25359994 [P1]; PMID:30092289 [P16]
103998	M	215319	-		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25359994 [P2]
103999	M	215320	-		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25359994 [P3]
104000	M	215321	-		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25359994 [P4]
104001	F	215322	-	North American	Hepatosplenomegaly	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1]
104002	F	215323	-		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25359994 [P6]
104004	F	215325	-		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25359994 [P8]
104005	F	215326	-		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4]
104007	M	215326	-		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25359994 [Fam.1:I.2(P10)]; PMID:35677041 [Pt5]
104008	F	215326	-		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:25359994 [Fam.1:II.2(P11)]
104229	F	215420	42	German	Hepatomegaly	Polycystic liver disease 5 with or without kidney disease	PMID:36478640 [II.3(II.3)]
104237	M	215421	0	European/American	Hepatosplenomegaly	Systemic early-onset autoinflammation, vasculitis and hepatopathy	PMID:36122175 [ref.8]; PMID:36932076 [P1(II.3)]; GRID:000818 [Patient]; GRID:000819 [pt.1]
104268	M	215444	31	Ashkenazi Jewish	Splenomegaly	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:28153428 [Patient(II.2)]
104351	M	215490	10	Caucasian	Hepatosplenomegaly	Hyper-IgE recurrent infection syndrome 1	PMID:26292779 [H1]
104355	M	215494	3		Hepatosplenomegaly	Hyper-IgE recurrent infection syndrome 1	PMID:26292779 [H8]; PMID:22126402 [case]
104392	F	215520	-	French	Hepatomegaly	Systemic early-onset autoinflammation, vasculitis and hepatopathy	PMID:36122175 [Patient]
104398	M	215522	0	Czech	Hepatosplenomegaly	Systemic early-onset autoinflammation, vasculitis and hepatopathy	PMID:36932076 [P3(II.1)]
104528	M	215543	0	Iranian	Lymphadenopathy	Immunodeficiency 91 and hyperinflammation	PMID:33876776 [Fam.A:II.2(P1)]
104540	M	215549	-,-	North African	Abnormal lymphoproliferation,Splenomegaly	X-linked multisystem autoinflammatory disease with immune dysregulation	PMID:36952639 [Fam.F:II.1(Patient F)]
104554	M	215551	-	Pakistani	Lymphadenopathy	Autoinflammation, panniculitis, and dermatosis syndrome	PMID:27523608 [Fam.1:V.2(V:2)]; PMID:27559085 [Fam.1:V.2(P1)]; PMID:35587511 [Fam.G:II.2(4)]; PMID:34797715 [P1]; PMID:38914362 [Fam.A:V.2(023)]
104568	F	215551	-	Pakistani	Hepatomegaly	Autoinflammation, panniculitis, and dermatosis syndrome	PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)]
104580	F	215553	-	Turkish	Lymphadenopathy	Autoinflammation, panniculitis, and dermatosis syndrome	PMID:27559085 [Fam.3:II.1(P3)]; PMID:35587511 [Fam.H:II.1(3)]; PMID:34797715 [P3]; PMID:38914362 [Fam.C:II.1(039)]
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)]
104592	F	215555	1	Iranian	Hepatosplenomegaly	Autoinflammation, panniculitis, and dermatosis syndrome	PMID:30796585 [Patient(V.3)]; PMID:35587511 [Fam.J:II.3(5)]; PMID:38914362 [Fam.E:V.3(065)]
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)]
104639	F	215562	2	Iraqi	Hepatosplenomegaly	Immunodeficiency 91 and hyperinflammation	PMID:33872655 [Fam.A:II.2(P1.2)]
104642	F	215562	1	Iraqi	Hepatomegaly	Immunodeficiency 91 and hyperinflammation	PMID:33872655 [Fam.A:II.1(P1.1)]
104671	F	215568	-	Lebanese	Hepatomegaly	Severe early onset systemic inflammation and autoimmunity	PMID:37349293 [Fam.1:II.1(P1)]
104681	F	215569	-	Iranian	Hepatosplenomegaly		PMID:37349293 [Fam.2:II.1(sister)]
104685	F	215571	-	Iranian	Hepatosplenomegaly	Severe early onset systemic inflammation and autoimmunity	PMID:37382373 [Fam.1:VI.6(VI.5)]
104713	M	215571	-	Iranian	Hepatosplenomegaly	Severe early onset systemic inflammation and autoimmunity	PMID:37382373 [Fam.1:VI.5(VI.4)]
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]
104849	F	215583	0	Egyptian	Hepatomegaly	Omenn syndrome 2	PMID:30307608 [4]
104850	M	215584	0	Egyptian	Abnormal lymphoproliferation	Omenn syndrome 2	PMID:30307608 [5]
104851	M	215585	0,0	Egyptian	Abnormal lymphoproliferation,Hepatomegaly	Omenn syndrome 3	PMID:30307608 [6]
104855	F	215589	0	Egyptian	Hepatomegaly	Omenn syndrome 3	PMID:30307608 [7]
104858	M	215592	1	Egyptian	Abnormal lymphoproliferation	Severe combined immunodeficiency 9B, T-B-	PMID:30307608 [11]
104879	F	215606	0	Egyptian	Abnormal lymphoproliferation	Severe combined immunodeficiency 9A, T-B-	PMID:30307608 [25]
104881	F	215608	-	Egyptian	Hepatomegaly	Severe combined immunodeficiency 10A, T-B+	PMID:30307608 [27]
104886	F	215613	-,-	Caucasian	Abnormal lymphoproliferation,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)]
105025	F	215626	-	French	Hepatosplenomegaly	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8]
105043	F	215630	-,-	Caucasian	Abnormal lymphoproliferation,Splenomegaly	CTLA4 haploinsufficiency with autoimmune infiltration	PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))]
105046	M	215632	6,2		Abnormal lymphoproliferation,Hepatosplenomegaly	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:28253502 [Fam.1:II.1(Patient 1)]
105050	F	215633	1		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:28253502 [Patient 2]
105057	F	215635	-,26	German	Abnormal lymphoproliferation,Lymphadenopathy	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	-	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	16	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)]
105220	F	215666	-	Finnish	Lymphadenopathy	NFKB1 insufficiency	PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)]
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)]
105248	F	215676	12	Turkish	Lymphadenopathy	Immunodeficiency, common variable, 8	PMID:28956255 [P2(II.1)]
105249	M	215676	3,3	Turkish	Abnormal lymphoproliferation,Splenomegaly	Immunodeficiency, common variable, 8	PMID:28956255 [Fam.P2:II.2]
105254	F	215679	-		Hepatomegaly	Severe combined immunodeficiency 9A, T-B-	PMID:25516070 [Pt1]
105256	F	210008	-	German	Splenomegaly		PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)]
105272	M	215681	-	Saudi	Lymphadenopathy	Immunodeficiency, common variable, 8	PMID:28134088 [P1(II.1)]
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]
105339	F	215701	-	Pakistani	Hepatosplenomegaly	Immunodeficiency 87	PMID:31308374 [Fam.A:III.4(P1)]
105343	F	215705	2	Finnish	Hepatosplenomegaly	Early-onset pulmonary and cutaneous vasculitis	PMID:34536415 [P1(I.1)]
105348	M	215710	56		Hepatosplenomegaly	Combined immunodeficiency with skin-hair depigmentation	PMID:29408330 [P1(II.-)]
105350	M	215712	1	Omani	Lymphadenopathy	Immunodeficiency, common variable, 8	PMID:28690850 [P1]
105353	F	215715	10	Turkish	Splenomegaly	Immunodeficiency, common variable, 8	PMID:26686526 [P1]
105357	M	215719	4		Lymphadenopathy	Immunodeficiency, common variable, 8	PMID:29804237 [P1]
105361	F	215701	-	Pakistani	Hepatomegaly	Immunodeficiency 87	PMID:31308374 [Fam.A:III.3(P2)]
105363	F	215722	-,-	Afro-American	Abnormal lymphoproliferation,Lymphadenopathy	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]
105398	F	215749	-		Hepatosplenomegaly	Immunodeficiency, common variable, 8	PMID:31389321 [Patient 1]
105403	M	215754	9		Hepatosplenomegaly	Immunodeficiency, common variable, 8	PMID:32915433 [Patient 1]
105406	M	215757	3		Splenomegaly	Immunodeficiency, common variable, 8	PMID:31876783 [Patient 1]
105410	M	215760	-	Indian	Hepatosplenomegaly	Immunodeficiency, common variable, 8	PMID:33713070 [Case1]
105412	F	215762	-	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)]
105423	M	215765	-	Caucasian	Hepatosplenomegaly	NFKB1 insufficiency	PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)]
105424	M	215766	-,-	Admixed	Abnormal lymphoproliferation,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)]
105432	M	215767	-	Caucasian	Lymphadenopathy	NFKB1 insufficiency	PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200]
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]
105470	M	215774	-	Iranian	Lymphadenopathy	NFKB1 insufficiency	PMID:150198 [Fam.BP:309]; PMID:31117086 [P35]
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]
105481	M	215777	-	Haitian/Hispanic	Lymphadenopathy	Activated p110-delta syndrome 1	PMID:24165795 [Fam.A:II.1(A.1)]
105484	F	215778	-	Caucasian	Lymphadenopathy	Activated p110-delta syndrome 1	PMID:24165795 [Fam.B:III.1(B.III.1)]
105486	F	215779	-	Afro-American	Hepatosplenomegaly	Activated p110-delta syndrome 1	PMID:24165795 [Fam.C:II.1(C.1)]
105487	F	215780	-	Afro-American	Lymphadenopathy	Activated p110-delta syndrome 1	PMID:24165795 [Fam.G:II.1(G.1)]
105504	F	215783	-	Asian	Lymphadenopathy	Activated p110-delta syndrome 1	PMID:24165795 [Fam.E:II.1(E.1)]
105509	M	215784	-	Caucasian	Hepatosplenomegaly	Activated p110-delta syndrome 1	PMID:24165795 [Fam.D:II.1(D.II.1)]
105513	F	215787	-	Caucasian	Hepatosplenomegaly	Activated p110-delta syndrome 1	PMID:24165795 [Fam.F:II.1(F.II.1)]
105533	M	215791	-,44	Portuguese	Abnormal lymphoproliferation,Hepatosplenomegaly	CTLA4 haploinsufficiency with autoimmune infiltration	PMID:29225858 [Patient(I.1)]
105537	M	215793	-		Lymphadenopathy	Activated p110-delta syndrome 1	PMID:24698326 [P1]
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	3,16	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]
105572	M	215811	7	South Asian	Hepatosplenomegaly	Immunodeficiency, common variable, 8	PMID:32154999 [Patient]
105573	U	215812	-		Hepatomegaly	Activated p110-delta syndrome 1	PMID:24698326 [P4]
105574	U	215813	5		Hepatosplenomegaly	Activated p110-delta syndrome 1	PMID:24698326 [P5]
105576	U	215815	-		Hepatosplenomegaly	Activated p110-delta syndrome 1	PMID:24698326 [P8]
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)]
105623	M	215822	6	Caucasian	Hepatosplenomegaly	Activated p110-delta syndrome 1	PMID:25352054 [Fam.1:II.6(P2)]
105635	F	215829	9,-	Caucasian	Abnormal lymphoproliferation,Hepatosplenomegaly	Activated p110-delta syndrome 1	PMID:26371693 [1]
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)]
105659	F	215836	-		Lymphadenopathy	Activated p110-delta syndrome 1	PMID:26437962 [Fam.A:II.2(Sibling 2)]
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	12	Caucasian	Splenomegaly	NFKB1 insufficiency	PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)]
105687	F	215840	-	Caucasian	Lymphadenopathy	NFKB1 insufficiency	PMID:32278790 [Fam.BL:I.1(I.1)]; PMID:150198 [Fam.CE:I.2(416)]; PMID:36105815 [Fam.H67Y:I.2(H67Y/1)]
105690	F	215840	-	Caucasian	Lymphadenopathy	NFKB1 insufficiency	PMID:32278790 [Fam.BL:II.1(II.1)]; PMID:150198 [Fam.CE:II.1(417)]; PMID:36105815 [Fam.H67Y:II.1(H67Y/2)]
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,Lymphadenopathy	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]
105777	M	215870	-	Iranian	Lymphadenopathy	NFKB1 insufficiency	PMID:32278790 [CA.I.1]; PMID:150198 [Fam.DL:469]; PMID:36105815 [Fam.K326N/CA:K326N/2]
105778	F	215871	9	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]
105799	M	215881	0	Pakistani	Lymphadenopathy	Combined immunodeficiency 41	PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)]
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]
105852	M	215893	-		Hepatosplenomegaly	Autoinflammation, immune dysregulation, and eosinophilia	PMID:33864888 [S170(II.1)]
105859	F	215894	46,46	British	Abnormal lymphoproliferation,Lymphadenopathy	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	4,4	North American	Abnormal lymphoproliferation,Lymphadenopathy	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,Lymphadenopathy	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,Lymphadenopathy	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,Lymphadenopathy	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,Lymphadenopathy	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)]
105999	F	215922	-		Hepatomegaly	NFKB1 insufficiency	PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)]
106000	M	215922	-,20		Abnormal lymphoproliferation,Lymphadenopathy	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,Lymphadenopathy	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))]
106090	M	215946	0	Saudi	Lymphadenopathy	T-cell immunodeficiency with thymic aplasia	PMID:33464451 [P11]; PMID:37419334 [P11(27)]; PMID:31151968 [Fam.1:II.2(Patient)]
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)]
106256	F	215977	50	Caucasian	Lymphadenopathy		PMID:30250467 [UU.III.3]; PMID:29729943 [Fam.UU:III.4(UU.III.3 (108))]; PMID:29305966 [Fam.IV.2:III.9(III.11)]
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]
106342	F	215992	8	Russian	Hepatosplenomegaly	NFKB1 insufficiency	PMID:150198 [Fam.EV:606]; PMID:36105815 [G92V]
106347	M	215994	28		Lymphadenopathy	NFKB1 insufficiency	PMID:150198 [Fam.EY:609]; PMID:36105815 [R198C]
106352	M	215998	-		Splenomegaly	Activated p110-d syndrome 2	PMID:34922003 [Fam.B:II.1(B1)]
106358	M	216000	19		Lymphadenopathy	CTLA4 haploinsufficiency with autoimmune infiltration	PMID:31993940 [Patient(II.1)]
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)]
106423	F	216015	-		Lymphadenopathy	NFKB1 insufficiency	PMID:150198 [Fam.FU:III.4(765)]; PMID:38130541 [Fam.1:III.4(P1)]
106445	M	216015	18		Hepatosplenomegaly	NFKB1 insufficiency	PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)]
106448	F	216016	-	Japanese	Hepatomegaly	Autoinflammation, panniculitis, and dermatosis syndrome 2	PMID:38914362 [Fam.R:II.1(130)]; PMID:38652464 [Fam.1:II.1(Patient)]
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]
106464	M	216024	-	Egyptian	Hepatosplenomegaly	Immunodeficiency, common variable, 8	PMID:32506362 [P5]
106471	M	216025	-	Egyptian	Hepatosplenomegaly	Immunodeficiency, common variable, 8	PMID:32506362 [P6]
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]
106480	M	216033	-	Egyptian	Hepatosplenomegaly	Immunodeficiency, common variable, 8	PMID:32506362 [Fam.216032:II.2(P15)]
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)]
106558	M	216078	1	Caucasian	Hepatosplenomegaly	Adenosine deaminase 2 deficiency	PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)]
106562	M	216079	-	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	15,16		Abnormal lymphoproliferation,Splenomegaly	CTLA4 haploinsufficiency with autoimmune infiltration	PMID:34116213 [Fam.A:II.1(P1)]
106636	F	216095	-,-	Iranian	Abnormal lymphoproliferation,Lymphadenopathy	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]
106790	M	216141	-		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:34619682 [P.265]
106792	F	216141	-		Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:34619682 [P.227]
106812	F	216158	13,15		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])]
106832	M	216164	13		Lymphadenopathy	Immunodeficiency, common variable, 8	PMID:30479033 [Patient]
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)]
106875	F	216179	-	Japanese	Hepatomegaly	Adenosine deaminase 2 deficiency	PMID:33529688 [Fam.4:II.3(P6)]
106892	M	216183	-	Caucasian	Hepatomegaly	Immunodeficiency, common variable, 17	PMID:27231034 [Fam.F1:III.3(P1.1)]
106912	F	216186	49,49		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)]
106939	M	216189	43	Caucasian	Hepatosplenomegaly	NFKB1 insufficiency	PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)]
106956	M	216197	-,-		Abnormal lymphoproliferation,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	-		Splenomegaly	Activated p110-delta syndrome 1	PMID:27444043 [P1]
107045	M	216284	-		Splenomegaly	Activated p110-delta syndrome 1	PMID:28428270 [P1]
107046	M	216285	3		Lymphadenopathy	Activated p110-delta syndrome 1	PMID:28428270 [P2]
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)]
107118	F	216340	0	Iranian	Lymphadenopathy	Autoinflammation with episodic fever and immune dysregulation	PMID:38609546 [P2(II.2)]
107138	M	216357	-		Lymphadenopathy	Activated p110-delta syndrome 1	PMID:28469999 [Patient(II.1)]
107150	F	216363	0	Iranian	Lymphadenopathy	Severe congenital neutropenia 6	PMID:37120535 [Fam.1:I.4(P2)]
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)]
107212	F	216374	4	Arab	Hepatomegaly	Combined immunodeficiency 37	PMID:31775018 [Patient]
107226	M	216382	3	North American	Splenomegaly	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:35677041 [Pt6]; PMID:33651637 [Patient 2]; PMID:28349047 [Case]
107242	M	216394	7	Caucasian	Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:33651637 [Patient 3]; PMID:30809743 [Fam.2:II.2(Pt#3)]
107245	M	216394	-	Caucasian	Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:30809743 [Fam.2:II.1(Pt#2)]
107246	M	216395	2	Caucasian	Lymphadenopathy	Infantile-Onset Multisystem Autoimmune Disease 1	PMID:30809743 [Pt#1]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).