Decreased IgG levels
Preferred term: Decreased IgG levels
Alt. terms: Decreased gamma-globin expression | IgG deficiency | Decreased immunoglobulin G | Decreased serum IgG
HPO term: Decreased circulating IgG level
HPO code: HP:0004315
GenIA ID: 12
Last updated on: 2021-12-10 17:55:48
Cross ref. to other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
An abnormally decreased level of immunoglobulin IgG in blood.
Hierarchical classification
PARENT terms
TERM
Decreased IgG levels
Reported patients added to GenIA
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101015 | M | 210203 | 18 | German | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [MM.II.1]; PMID:29729943 [MM.II.1 (87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3]; PMID:34111452 [AM.II.1 (87)]; PMID:37740092 [P25] |
| 101017 | F | 210232 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F003:P003] | |
| 101019 | F | 210316 | -,- | German | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F004:P004] | |
| 101020 | F | 210008 |
22 | German | Decreased IgG levels | 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 | 45,- | German | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F006:P006] | |
| 101022 | M | 210482 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F007:P007] | |
| 101023 | M | 210731 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F008:P008] | |
| 101024 | F | 210927 | - | Decreased IgG levels | PMID:34975878 [Fam.F009:P009] | ||
| 101025 | M | 210937 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F010:P010] | ||
| 101026 | M | 210215 | -,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F011:P011] | ||
| 101027 | M | 211035 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F012:P012] | ||
| 101028 | F | 210750 | 42,- | German | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F013:P013] | |
| 101036 | F | 210182 |
-,- | Caucasian | Decreased IgG levels,Reduced IgG2 levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.2(B.II.1)]; PMID:29729943 [Fam.B:II.2(B.II.1 (13))]; PMID:34975878 [Fam.F014:III.2(P014)]; PMID:27418640 [P12(5)]; PMID:34111452 [B.II.1 (13)]; PMID:37740092 [P01] |
| 101037 | M | 210182 |
50 | Caucasian | Decreased IgG levels | 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)]; PMID:34111452 [B.II.3 (15)]; PMID:39218359 [15] |
| 101038 | F | 210182 |
41 | Caucasian | Decreased IgG levels | 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)]; PMID:34111452 [B.II.4 (16)] |
| 101039 | F | 210182 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.3(B.III.3)]; PMID:29729943 [Fam.B:III.4(B.III.3 (18))]; PMID:34111452 [B.III.3 (18)] |
| 101043 | M | 210725 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(H.II.2 (30))]; PMID:34975878 [Fam.F017:P017]; PMID:34111452 [H.II.2 (30)] |
| 101045 | M | 210205 |
23,-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia,Reduced IgG2 levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.13(A.III.3)]; PMID:29729943 [Fam.A:III.13(A.III.3 (9))]; PMID:34975878 [Fam.F018:III.2(P018)]; PMID:27418640 [P11(5)]; PMID:34111452 [A.III.3 (9)] |
| 101046 | F | 210205 |
72,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:I.2(A.I.2)]; PMID:29729943 [Fam.A:I.2(A.I.2 (1))]; PMID:34111452 [A.I.2 (1)] |
| 101049 | F | 210205 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.15(A.III.5)]; PMID:29729943 [Fam.A:III.15(A.III.5 (10))]; PMID:34111452 [A.III.5 (10)] |
| 101050 | F | 210205 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.16(A.III.6)]; PMID:29729943 [Fam.A:III.16(A.III.6 (11))]; PMID:34975878 [Fam.F018:III.5(P020)]; PMID:34111452 [A.III.6 (11)] |
| 101051 | F | 210205 |
15 | Caucasian | Decreased IgG levels | 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)]; PMID:34111452 [A.III.1 (8)] |
| 101053 | F | 211287 | 34,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F022:P022] | ||
| 101055 | M | 212088 | 1,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F408:P408] | ||
| 101058 | M | 210120 | 17,17 | Decreased IgG levels,Reduced IgG2 levels | Immunodeficiency 31C | PMID:34390440 [CMC21] | |
| 101059 | M | 211386 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F030:P030]; PMID:31057532 [Fam.F:II.1] | ||
| 101061 | F | 211392 | 19,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F031:P031] | ||
| 101063 | M | 210118 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F411:P411]; PMID:34390440 [CMC01] | |
| 101065 | F | 211364 | -,9 | Decreased IgG levels,Reduced IgG1 levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F033:P033] | |
| 101067 | M | 211264 | -,7 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F036:P036] | ||
| 101068 | M | 210742 | -,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F037:P037] | ||
| 101069 | F | 211370 |
- | Turkish | Decreased IgG levels | NFKB1 insufficiency | PMID:34975878 [Fam.F039:P039]; PMID:32278790 [Fam.AJ:III.2(III.2)]; PMID:150198 [Fam.BZ:III.2(381)] |
| 101070 | M | 211372 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F040:P040] | ||
| 101076 | F | 210226 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F041:P041] | |
| 101077 | F | 210211 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F043:P043] | |
| 101078 | F | 211301 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F044:P044] | ||
| 101079 | M | 211310 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F045:P045]; PMID:34390440 [NEG005] | ||
| 101080 | F | 211150 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F046:P046] | ||
| 101081 | F | 211315 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F047:P047] | ||
| 101083 | M | 210479 | -,38 | German | Hypogammaglobulinemia,Reduced IgG4 levels | PMID:34975878 [Fam.F049:P049] | |
| 101084 | F | 211225 | 13,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F050:P050] | ||
| 101085 | F | 210196 | 36,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F051:P051] | ||
| 101086 | M | 210934 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F052:P052] | |
| 101087 | M | 211335 | 10,- | German | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F053:P053] |
| 101088 | M | 211560 | -,41 | German | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F054:P054] | |
| 101089 | M | 211033 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F055:P055] | ||
| 101090 | M | 211257 | -,39 | German | Decreased IgG levels,Reduced IgG2 levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13]; PMID:39218359 [36] |
| 101091 | M | 210911 | - | Hypogammaglobulinemia | DiGeorge syndrome | PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180] | |
| 101092 | M | 210772 | -,42 | Hypogammaglobulinemia,Reduced IgG1 levels | PMID:34975878 [Fam.F058:P058] | ||
| 101093 | M | 211289 | 33 | German | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
| 101095 | M | 210286 | 0,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F060:P060] | ||
| 101097 | F | 211399 | -,46 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F061:P061] | ||
| 101099 | F | 211408 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F062:P062] | ||
| 101100 | F | 211413 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F063:P063] | ||
| 101102 | M | 211415 | 11 | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F064:P064] | |
| 101103 | F | 211424 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F065:P065] | ||
| 101115 | F | 210778 | 29 | Caucasian | Decreased IgG levels | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
| 101116 | M | 210282 |
21,21 | German | Decreased IgG levels,Hypogammaglobulinemia | 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 | Decreased IgG levels | Thrombophilia due to Factor V Leiden | PMID:31057532 [Fam.C:II.1] | |
| 101119 | M | 210264 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F070:P070] | ||
| 101120 | M | 210221 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F071:P071] | |
| 101121 | M | 210784 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F072:P072] | |
| 101122 | M | 210197 |
19,19 | Italian | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
| 101123 | M | 210255 | -,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F074:P074] | ||
| 101124 | F | 210216 | 53,- | German | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F075:P075] | |
| 101125 | M | 210429 | - | German | Hypogammaglobulinemia | Immunodeficiency, common variable, 1 | PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060] |
| 101127 | F | 210318 | -,- | German | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F077:P077] | |
| 101128 | M | 210897 | -,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [OO.II.1 (95)]; PMID:34111452 [AO.II.1 (95)]; PMID:37740092 [P07] |
| 101129 | F | 210906 | 18,- | German | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F078:P078] | |
| 101130 | F | 210465 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F079:P079] | |
| 101131 | F | 210337 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F080:P080] | |
| 101132 | M | 210304 | 2,- | German | Hypogammaglobulinemia,Reduced IgG2 levels | PMID:34975878 [Fam.F081:P081] | |
| 101133 | M | 210896 | -,38 | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 13 | PMID:34975878 [Fam.F082:P082] | |
| 101134 | F | 210901 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F083:P083] | ||
| 101135 | F | 210574 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F084:P084] | ||
| 101136 | M | 210356 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F085:P085] | ||
| 101137 | M | 211224 | 18 | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F398:P398] | |
| 101138 | F | 211092 | -,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F086:P086] | ||
| 101139 | F | 212090 | 21,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F399:P399] | ||
| 101143 | F | 211219 | -,- | Hypogammaglobulinemia,Reduced IgG2 levels | PMID:34975878 [Fam.F088:P088] | ||
| 101145 | M | 211221 |
20,- | German | Decreased IgG levels,Hypogammaglobulinemia | 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 | Hypogammaglobulinemia | PMID:34975878 [Fam.F089:P089] | |
| 101147 | F | 211145 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F090:P090] | ||
| 101148 | F | 211146 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F091:P091] | ||
| 101149 | F | 210667 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F092:P092] | ||
| 101150 | F | 210736 | 16,16 | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F093:P093] | |
| 101151 | M | 210938 | -,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F094:P094] | ||
| 101152 | M | 211186 | - | Austrian | Hypogammaglobulinemia | PMID:34975878 [Fam.F095:P095] | |
| 101154 | F | 210005 | -,- | Hypogammaglobulinemia,Reduced IgG1 levels | PMID:34975878 [Fam.F097:P097] | ||
| 101155 | M | 210235 | 18,10 | German | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [JJ.II.1 (83)]; PMID:34975878 [Fam.F098:P098]; PMID:34111452 [AJ.II.1 (83)] |
| 101157 | F | 211016 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F099:P099] | ||
| 101159 | M | 211131 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F100:P100] | ||
| 101161 | M | 211455 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F102:P102] | ||
| 101162 | F | 211457 | -,17 | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F103:P103] | |
| 101163 | F | 211458 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F104:P104] | ||
| 101164 | F | 211460 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F105:P105] | |
| 101165 | M | 211461 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F106:P106] | ||
| 101166 | M | 211463 | 27,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F107:P107] | ||
| 101167 | M | 211470 |
- | Decreased IgG levels | NFKB1 insufficiency | PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)] | |
| 101171 | M | 210012 |
7 | Dutch | Decreased IgG levels | ?Immunodeficiency, common variable, 20 | PMID:25926555 [Patient(II.1)] |
| 101174 | M | 210012 |
37 | Dutch | Decreased IgG levels | ?Immunodeficiency, common variable, 20 | PMID:25926555 [Fam.Patient:I.1(father)] |
| 101177 | F | 212111 | -,12 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F407:P407] | ||
| 101178 | M | 210542 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F114:P114] | ||
| 101181 | F | 211169 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F115:P115] | ||
| 101183 | F | 210282 |
29 | German | Hypogammaglobulinemia | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.A:II.1(P1)]; PMID:16384931 [Fam.A:II.2(P1)]; PMID:19426217 [Fam.A:II.1(P1)]; PMID:28861081 [Fam.1:II.1(P1)] |
| 101184 | F | 211174 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F116:P116] | ||
| 101185 | F | 211485 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F117:P117] | ||
| 101186 | F | 211471 | -,-,- | Decreased IgG levels,Hypogammaglobulinemia,Reduced IgG2 levels | PMID:34975878 [Fam.F118:P118] | ||
| 101187 | F | 211475 |
- | Decreased IgG levels | NFKB1 insufficiency | PMID:34975878 [Fam.F119:P119]; PMID:150198 [Fam.FB:II.1(619)]; PMID:36105815 [Fam.G376S:II.1(daughter)] | |
| 101189 | M | 211486 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F120:P120] | ||
| 101198 | M | 211482 | -,40 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F121:P121] | ||
| 101199 | F | 211483 | 23,- | German | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [YY.II.1 (127)]; PMID:34975878 [Fam.F122:P122]; PMID:34111452 [AY.II.1 (127)]; PMID:37740092 [P10] |
| 101201 | F | 211487 | 19 | Decreased IgG levels | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:II.3(P123)]; PMID:30941118 [Fam.1404:II.3(Pt#22)] | |
| 101202 | F | 211487 | - | Decreased IgG levels | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:III.1(P124)]; PMID:30941118 [Fam.1404:III.1(Pt#23)] | |
| 101203 | M | 211488 | 36,- | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F125:P125] | |
| 101204 | M | 211492 | -,46 | German | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F126:P126] | |
| 101205 | F | 211471 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F127:P127] | ||
| 101206 | F | 211500 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F129:P129] | ||
| 101207 | F | 211502 | -,43 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F130:P130] | ||
| 101213 | M | 210014 |
35 | German | Hypogammaglobulinemia | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.B:II.1(P3)]; PMID:16384931 [Fam.B:II.2(P3)]; PMID:19426217 [Fam.B:II.2(P3)]; PMID:28861081 [Fam.2:II.1(P3)] |
| 101214 | M | 210014 |
25 | German | Hypogammaglobulinemia | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.B:II.2(P4)]; PMID:16384931 [Fam.B:II.3(P4)]; PMID:19426217 [Fam.B:II.3(P4)]; PMID:28861081 [Fam.2:II.2(P4)] |
| 101218 | F | 210220 |
-,1 | German | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.089:III.2(III.2)]; PMID:26279205 [Fam.089:III.2(III2)]; PMID:29403474 [Fam.089 (5):III.2(III2)]; PMID:150198 [Fam.AB:V.4(103)] |
| 101224 | F | 210016 | 15 | Austrian | Hypogammaglobulinemia | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.D:II.1(II.1)]; PMID:16384931 [Fam.D:II.1(P7)]; PMID:19426217 [Fam.D:II.1(P7)]; PMID:28861081 [Fam.4:II.1(P7)] |
| 101226 | F | 210016 | 4 | Austrian | Hypogammaglobulinemia | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.D:II.3(II.3)]; PMID:16384931 [Fam.D:II.3(P8)]; PMID:19426217 [Fam.D:II.3(P8)]; PMID:28861081 [Fam.4:II.3(P8)] |
| 101227 | M | 210016 | 3 | Austrian | Decreased IgG levels | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.D:II.4(II.4)]; PMID:16384931 [Fam.D:II.4(P9)]; PMID:19426217 [Fam.D:II.4(P9)]; PMID:28861081 [Fam.4:II.4(P9)] |
| 101235 | M | 210135 | 5 | Arab | Hypogammaglobulinemia | PMID:22608502 [Fam.A:I.1] | |
| 101260 | M | 212144 | 7 | Iranian | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
| 101268 | F | 212145 | 15,-,15 | Iranian | Decreased IgG levels,Hypogammaglobulinemia,Reduced IgG2 levels | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16] |
| 101286 | F | 212146 | -,- | Saudi | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.3]; PMID:25468195 [Fam.C:II.3(P4)]; PMID:26707784 [P8] |
| 101287 | F | 212146 | -,- | Saudi | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.4]; PMID:25468195 [Fam.C:II.4(P5)]; PMID:26707784 [P9] |
| 101288 | F | 212146 | -,- | Saudi | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.5]; PMID:25468195 [Fam.C:II.5(P6)]; PMID:26707784 [P10] |
| 101296 | M | 210135 | 5 | Arab | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.3(P1)]; PMID:26707784 [P1] |
| 101343 | M | 210134 | 16 | Italian | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3] |
| 101356 | F | 210135 | 14 | Arab | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2] |
| 101362 | F | 210895 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F131:P131] | ||
| 101364 | F | 212159 | - | North American | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:27379089 [P13] |
| 101365 | M | 212160 | - | North American | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:27379089 [P14] |
| 101368 | F | 210392 | - | German | Hypogammaglobulinemia | Agammaglobulinemia 9 | PMID:34975878 [Fam.F132:P132] |
| 101370 | F | 210424 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F133:P133] | |
| 101375 | F | 212162 | 23 | Iranian | Decreased IgG levels | 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] |
| 101379 | M | 212163 | 10 | Iranian | Hypogammaglobulinemia | 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 | Hypogammaglobulinemia | 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 | 39,44 | German | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:34975878 [Fam.F134:P134]; PMID:32278790 [BN.I.1]; PMID:150198 [Fam.CZ:445]; PMID:36105815 [Y90S] |
| 101385 | M | 210567 | 28,28 | German | Decreased IgG levels,Reduced IgG2 levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F135:P135]; PMID:31857261 [Patient 9] |
| 101386 | F | 212164 | 9 | Pakistani | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:22981790 [P1(II.1)]; PMID:26707784 [P11] |
| 101387 | M | 211537 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F136:P136] | |
| 101388 | M | 212165 | -,13 | Palestinian | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.1:P1]; PMID:26707784 [P20] |
| 101391 | F | 211018 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F137:P137] | ||
| 101399 | F | 210189 |
16,14 | German | Decreased IgG levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
| 101401 | F | 210205 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | 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)]; PMID:34111452 [A.II.9 (6)] |
| 101402 | M | 210690 | 38 | German | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F138:P138] |
| 101403 | M | 210189 |
- | German | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
| 101404 | M | 210348 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F139:P139] | ||
| 101407 | M | 210884 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F140:P140] | ||
| 101410 | F | 210902 | 39 | German | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F141:P141]; PMID:28493328 [P4] |
| 101411 | M | 210343 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F142:P142] | |
| 101416 | M | 212169 | 7 | Turkish | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:27146671 [Patient(II.1)] |
| 101421 | F | 212170 | 6 | Iranian | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
| 101425 | M | 210205 |
-,41 | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | 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)]; PMID:34111452 [A.II.5 (4)] |
| 101433 | M | 210233 | 3 | German | Decreased IgG levels | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F143:P143] |
| 101435 | F | 212171 | 5 | Lebanese | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:26707784 [P29(II.1)] |
| 101442 | F | 210471 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F144:P144] | ||
| 101443 | M | 212175 | - | North American | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:26206937 [P7] |
| 101444 | F | 210640 | -,33 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F145:P145] | ||
| 101445 | F | 210296 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F146:P146] | |
| 101447 | F | 210943 | -,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F147:P147] | ||
| 101448 | M | 210496 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F148:P148] | ||
| 101450 | F | 210409 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F149:P149] | |
| 101451 | F | 212393 | - | Iranian | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:28512785 [P2] |
| 101452 | M | 212394 | - | Iranian | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33] |
| 101453 | F | 210192 | 37,- | German | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 13 | PMID:34975878 [Fam.F150:P150]; PMID:31057532 [Fam.A:I.2] |
| 101454 | M | 210192 | 19 | Decreased IgG levels | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.A:II.1] | |
| 101456 | M | 210192 | 21 | Decreased IgG levels | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.A:II.2] | |
| 101457 | F | 211027 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F152:P152] | ||
| 101458 | F | 210656 |
-,- | Georgian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [E.II.3 (23)]; PMID:27418640 [P19(5)]; PMID:34111452 [E.II.3 (23)] |
| 101461 | M | 210929 | 47 | German | Decreased IgG levels | 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 | 23,- | Decreased IgG levels,Reduced IgG2 levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F154:P154] | |
| 101467 | M | 211533 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F155:P155] | ||
| 101469 | F | 210220 |
-,16 | German | Decreased IgG levels,Reduced IgG2 levels | 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)] |
| 101475 | F | 210730 | -,- | Hypogammaglobulinemia,Reduced IgG2 levels | PMID:34975878 [Fam.F157:P157] | ||
| 101476 | F | 210512 | -,58 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F158:P158] | ||
| 101478 | F | 210353 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F159:P159] | ||
| 101479 | F | 210314 |
47,- | German | Decreased IgG levels,Hypogammaglobulinemia | 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)] |
| 101480 | U | 212454 | - | Italian | Hypogammaglobulinemia | Severe combined immunodeficiency 9A, T-B- | PMID:11133745 [P23] |
| 101482 | M | 210462 | -,22 | German | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F161:P161] | |
| 101485 | F | 210498 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F162:P162] | |
| 101488 | M | 210401 |
43 | German | Decreased IgG levels | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
| 101490 | M | 211009 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F164:P164] | ||
| 101492 | M | 210594 | - | German | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:34975878 [Fam.F165:P165]; PMID:150198 [Fam.GE:800] |
| 101495 | M | 212458 | 1 | Taiwanese | Hypogammaglobulinemia | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
| 101497 | F | 210631 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F166:P166] | ||
| 101498 | F | 210486 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F167:P167] | |
| 101501 | F | 212459 | - | British | Reduced IgG2 levels | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:II.2(P4)] |
| 101503 | M | 210237 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F168:P168] | ||
| 101504 | F | 211125 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F169:P169] | ||
| 101505 | M | 210309 | 8 | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F170:P170] | |
| 101507 | M | 210508 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F171:P171] | |
| 101511 | M | 212459 | - | British | Reduced IgG2 levels | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.3(P2)] |
| 101512 | M | 212459 | - | British | Reduced IgG2 levels | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.4(P3)] |
| 101514 | M | 210220 |
-,- | German | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.089:I.1(I.1)]; PMID:26279205 [Fam.089:I.1(I1)]; PMID:29403474 [Fam.089 (5):I.1(I1)]; PMID:150198 [Fam.AB:III.3(093)]; PMID:27461466 [Fam.089:I.1(24)] |
| 101519 | F | 210437 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F172:P172] | |
| 101524 | F | 210020 |
8 | German | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.105:II.1(P1)]; PMID:34975878 [Fam.F173:P173] |
| 101525 | F | 211543 | -,48,48 | Decreased IgG levels,Hypogammaglobulinemia,Reduced IgG1 levels | PMID:34975878 [Fam.F174:P174] | ||
| 101527 | M | 210728 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F175:P175] | ||
| 101529 | M | 211278 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F176:P176] | ||
| 101530 | M | 212460 | - | British | Reduced IgG2 levels | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.3(P5)] |
| 101532 | F | 212460 | - | British | Reduced IgG2 levels | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.5(P6)] |
| 101534 | M | 212460 | - | British | Reduced IgG2 levels | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.1(P11)] |
| 101535 | M | 210775 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F177:P177] | ||
| 101537 | M | 210949 | 42,- | Hypogammaglobulinemia,Reduced IgG2 levels | PMID:34975878 [Fam.F178:P178] | ||
| 101538 | F | 212460 | - | British | Reduced IgG2 levels | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.3(P7)] |
| 101543 | F | 210011 | -,21 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F179:P179] | ||
| 101544 | F | 211170 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F180:P180] | ||
| 101546 | F | 212462 | - | Irish | Reduced IgG2 levels | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:II.1(P10)] |
| 101549 | F | 212463 | - | British | Reduced IgG2 levels | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:I.1(P13)] |
| 101551 | M | 212463 | - | British | Reduced IgG2 levels | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:II.1(P12)] |
| 101553 | M | 210256 | -,- | German | Decreased IgG levels,Reduced IgG2 levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
| 101554 | M | 210192 | - | Hypogammaglobulinemia | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.A:II.3] | |
| 101555 | F | 210756 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F183:P183] | ||
| 101556 | F | 211086 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F184:P184] | ||
| 101557 | F | 210992 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F185:P185] | |
| 101562 | M | 210754 | 6,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F186:P186] | ||
| 101564 | M | 210361 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F187:P187] | |
| 101565 | M | 211008 |
-,1 | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | 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)] |
| 101567 | M | 211025 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F189:P189] | ||
| 101568 | M | 210311 | 10,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F190:P190] | ||
| 101569 | F | 210220 |
39 | German | Decreased IgG levels | 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] |
| 101571 | F | 211165 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F194:P194] | |
| 101573 | F | 210707 | 6 | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F196:P196] | |
| 101574 | F | 210776 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F197:P197] | ||
| 101575 | M | 210900 | - | German | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2] |
| 101578 | M | 210205 |
-,- | German | Decreased IgG levels,Hypogammaglobulinemia | 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)]; PMID:34111452 [A.II.8 (5)] |
| 101579 | F | 210773 | -,- | Turkish | Decreased IgG levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [P1]; PMID:31857261 [Patient 13] |
| 101581 | M | 210954 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F202:P202] | ||
| 101585 | F | 210671 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F203:P203] | ||
| 101586 | F | 210642 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F204:P204] | ||
| 101588 | M | 210935 | -,47 | Decreased IgG levels,Reduced IgG2 levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F206:P206] | |
| 101607 | F | 211126 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F208:P208] | ||
| 101613 | F | 210737 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F210:P210] | ||
| 101616 | F | 211098 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F211:P211] | ||
| 101617 | M | 210994 | 52 | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F212:P212] | |
| 101618 | M | 210948 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F213:P213] | ||
| 101620 | M | 211003 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F214:P214] | ||
| 101624 | M | 210946 | 49 | Decreased IgG levels | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F215:P215] | |
| 101628 | F | 210955 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:I.2(ZZ.I.2 (128))]; PMID:34975878 [Fam.F217:P217]; PMID:34111452 [AZ.I.2 (128)] |
| 101629 | F | 210990 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F218:P218] | ||
| 101630 | M | 211089 |
-,- | German | Decreased IgG levels,Reduced IgG2 levels | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:34975878 [Fam.F219:P219]; PMID:34975878 [Fam.F219:P219]; PMID:32278790 [BR.I.1]; PMID:32278790 [BR.I.1]; PMID:150198 [Fam.DC:II.2(453)]; PMID:150198 [Fam.DC:II.2(453)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)] |
| 101633 | M | 210945 | -,1 | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F220:P220]; PMID:30941118 [Fam.846:II.1(Pt#49)] | |
| 101635 | F | 211154 | -,- | German | Decreased IgG levels,Reduced IgG2 levels | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
| 101639 | F | 210928 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F222:P222] | ||
| 101642 | M | 210915 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F223:P223] | ||
| 101644 | F | 210918 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F224:P224] | ||
| 101648 | M | 211026 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F225:P225] | ||
| 101651 | M | 210939 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F226:P226] | ||
| 101656 | F | 211483 | -,23 | German | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F227:P227] | |
| 101659 | M | 211166 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F228:P228] | ||
| 101660 | F | 211014 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F229:P229] | ||
| 101662 | F | 211031 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F230:P230] | ||
| 101663 | M | 211078 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F231:P231] | ||
| 101664 | M | 211085 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F232:P232] | ||
| 101665 | M | 211084 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F233:P233] | ||
| 101669 | M | 211549 | 32,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F234:P234] | ||
| 101672 | M | 211159 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F235:P235] | ||
| 101673 | M | 211156 | - | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
| 101675 | M | 211167 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F237:P237] | ||
| 101678 | F | 211171 | 61,- | Hypogammaglobulinemia,Reduced IgG4 levels | PMID:34975878 [Fam.F238:P238] | ||
| 101679 | M | 211173 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F240:P240] | ||
| 101695 | M | 211280 | -,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F241:P241] | ||
| 101697 | F | 211447 | 31,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F243:P243] | ||
| 101706 | F | 211545 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F245:P245] | ||
| 101708 | F | 211547 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F246:P246] | ||
| 101710 | F | 210771 | -,4 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F247:P247] | ||
| 101711 | M | 210925 |
-,4 | Turkish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:34975878 [Fam.F412:P412]; PMID:32278790 [Fam.BT:II.1(II.1)]; PMID:150198 [Fam.DE:II.1(460)]; PMID:36105815 [Fam.R230K:II.1(R230K/2)] |
| 101717 | F | 210260 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | 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)]; PMID:34111452 [C.II.3 (19)] |
| 101719 | F | 210022 | - | Iranian | Hypogammaglobulinemia | 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 | Decreased IgG levels,Hypogammaglobulinemia | 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)]; PMID:34111452 [D.II.1 (22)] |
| 101727 | M | 210300 |
45 | North American | Decreased IgG levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:II.1(P1)] |
| 101731 | M | 210300 |
- | North American | Decreased IgG levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.3(P2)] |
| 101732 | M | 210300 |
14 | North American | Decreased IgG levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.4(P3)] |
| 101735 | F | 210300 |
13 | North American | Decreased IgG levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.8(P5)] |
| 101736 | M | 210300 |
11 | North American | Decreased IgG levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.9(P6)] |
| 101737 | M | 210300 |
9 | North American | Decreased IgG levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.10(P7)] |
| 101738 | M | 210300 |
6 | North American | Decreased IgG levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.11(P8)] |
| 101740 | M | 210300 |
2 | North American | Decreased IgG levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.13(P9)] |
| 101741 | F | 210300 |
1 | North American | Decreased IgG levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.14(P10)] |
| 101744 | F | 210182 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | 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)]; PMID:34111452 [B.III.2 (17)] |
| 101748 | F | 210573 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F248:P248] | ||
| 101755 | M | 210025 | 7 | North American | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
| 101757 | M | 210026 | 11 | North American | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.605:P14]; PMID:26206937 [P3] |
| 101758 | M | 210027 | - | North American | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.606:P15]; PMID:26206937 [P5] |
| 101759 | F | 210028 | 12 | North American | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.607:P16]; PMID:26206937 [P4] |
| 101764 | F | 210031 | - | Dutch | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
| 101767 | F | 210788 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F249:P249] | ||
| 101768 | M | 210789 | - | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
| 101773 | M | 210876 |
-,11 | German | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:34975878 [Fam.F413:P413]; PMID:32278790 [Fam.BK:II.1(II.1)]; PMID:150198 [Fam.CC:II.1(405)]; PMID:36105815 [R57C/1] |
| 101774 | M | 210908 |
-,- | Argentinian | Decreased IgG levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
| 101775 | M | 210908 |
-,- | Argentinian | Decreased IgG levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
| 101776 | M | 210912 | - | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F251:P251] | |
| 101777 | F | 210920 | - | Libyan | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:26745254 [P1(II.1)] |
| 101780 | M | 210923 |
0 | German | Decreased IgG levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.II:III.1(P3)] |
| 101788 | M | 210950 |
- | Swiss | Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [P7(II.1)] |
| 101789 | M | 210950 |
-,- | Swiss | Decreased IgG levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P7:II.2(P8)] |
| 101790 | M | 210960 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F254:P254] | ||
| 101791 | M | 210978 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F255:P255] | ||
| 101793 | M | 211028 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F256:P256] | ||
| 101794 | F | 211030 | -,- | Italian | Decreased IgG levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
| 101796 | F | 211107 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F257:P257] | ||
| 101797 | M | 211108 | -,-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia,Reduced IgG2 levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [QQ.II.1 (97)]; PMID:34975878 [Fam.F258:P258]; PMID:34111452 [AQ.II.1 (97)] |
| 101798 | M | 211117 | -,- | Decreased IgG levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [P11] | |
| 101799 | M | 211120 | -,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [XX.II.1]; PMID:29729943 [XX.II.1 (126)]; PMID:34111452 [AX.II.1 (126)]; PMID:37740092 [P17] |
| 101800 | M | 215769 |
- | Caucasian | Decreased IgG levels | 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)] |
| 101802 | F | 211221 |
38,38 | German | Decreased IgG levels,Reduced IgG1 levels | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
| 101803 | F | 211221 |
69,- | German | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:33995346 [Fam.A:II.2(Pat1)]; PMID:150198 [Fam.DV:II.2(521)]; PMID:36105815 [Fam.Y350C:II.2(Y350C/1)] |
| 101804 | M | 211221 |
-,2 | German | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:33995346 [Fam.A:IV.1(Pat3)]; PMID:150198 [Fam.DV:IV.1(533)]; PMID:36105815 [Fam.Y350C:IV.1(Y350C/3)] |
| 101805 | F | 211385 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F262:P262] | ||
| 101806 | F | 211428 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F263:P263] | ||
| 101807 | F | 211431 | 11 | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F264:P264] | |
| 101808 | F | 211441 | 36 | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F265:P265] | |
| 101809 | M | 211512 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F267:P267] | ||
| 101810 | F | 211516 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F268:P268] | ||
| 101811 | F | 211519 | 8,- | Hypogammaglobulinemia,Reduced IgG2 levels | PMID:34975878 [Fam.F403:P403] | ||
| 101812 | F | 211521 | 18 | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F271:P271] | |
| 101813 | F | 211525 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F273:P273] | ||
| 101814 | F | 211527 | -,-,- | German | Decreased IgG levels,Hypogammaglobulinemia,Reduced IgG2 levels | NFKB1 insufficiency | PMID:34975878 [Fam.F274:P274]; PMID:32278790 [AK.I.1]; PMID:150198 [Fam.CP:435] |
| 101815 | M | 211528 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F275:P275] | ||
| 101816 | M | 211529 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F276:P276] | ||
| 101817 | F | 211536 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F279:P279] | ||
| 101818 | M | 211539 | - | Hypogammaglobulinemia | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F281:P281] | |
| 101822 | F | 211568 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F286:P286] | ||
| 101823 | M | 211569 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F287:P287] | ||
| 101824 | M | 211571 | -,23 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F288:P288] | ||
| 101825 | M | 211554 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F289:P289] | ||
| 101826 | F | 211561 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F290:P290] | |
| 101827 | M | 211564 | 23,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F291:P291] | ||
| 101828 | F | 211576 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F292:P292] | ||
| 101829 | M | 211577 | -,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F293:P293] | ||
| 101832 | F | 210182 |
- | German | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.1(B.III.1)]; PMID:29729943 [Fam.B:III.2(B.III.1)] |
| 101833 | M | 210887 | - | Decreased IgG levels | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
| 101837 | M | 211589 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F298:P298] | ||
| 101838 | F | 211590 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F299:P299] | ||
| 101839 | F | 210913 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F300:P300] | ||
| 101840 | F | 211591 | - | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
| 101841 | F | 211599 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F302:P302] | ||
| 101843 | M | 211371 | 48 | German | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F404:P404] |
| 101846 | F | 211604 | -,- | Decreased IgG levels,Reduced IgG2 levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F306:P306] | |
| 101847 | T | 211632 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F308:P308] | ||
| 101848 | F | 211633 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F309:P309] | ||
| 101849 | F | 211636 | - | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F311:P311] | |
| 101851 | M | 211641 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F312:P312] | ||
| 101854 | M | 211650 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F316:P316] | ||
| 101855 | F | 211657 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F317:P317] | ||
| 101856 | F | 211487 | 4 | Decreased IgG levels | Immunodeficiency, common variable, 10 | PMID:30941118 [Fam.1404:III.2(Pt#24)] | |
| 101857 | M | 211737 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F319:P319] | ||
| 101877 | M | 211741 | -,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F321:P321] | ||
| 101878 | F | 211747 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F323:P323] | ||
| 101881 | M | 211754 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F324:P324] | ||
| 101882 | M | 211763 | -,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F325:P325] | ||
| 101883 | M | 211765 | 28 | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F405:P405] | |
| 101893 | F | 211767 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F326:P326] | ||
| 101897 | F | 211768 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F328:P328] | ||
| 101899 | M | 211769 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F329:P329] | ||
| 101900 | M | 211773 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F331:P331] | ||
| 101901 | F | 211774 | 54,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F332:P332] | ||
| 101902 | M | 211775 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F333:P333] | ||
| 101909 | M | 211796 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F336:P336] | ||
| 101911 | F | 211833 | -,- | Hypogammaglobulinemia,Reduced IgG1 levels | PMID:34975878 [Fam.F337:P337] | ||
| 101912 | F | 211848 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F338:P338] | ||
| 101913 | M | 211925 | -,- | Hypogammaglobulinemia,Reduced IgG4 levels | PMID:34975878 [Fam.F340:P340] | ||
| 101915 | F | 211935 | - | German | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] |
| 101922 | F | 211937 | -,- | Hypogammaglobulinemia,Reduced IgG4 levels | PMID:34975878 [Fam.F342:P342] | ||
| 101924 | M | 210094 | - | German | Hypogammaglobulinemia | Immunodeficiency 31C | PMID:34390440 [CMC05] |
| 101946 | F | 211943 | 46 | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F406:P406] | |
| 101947 | M | 211945 | -,- | Hypogammaglobulinemia,Reduced IgG2 levels | PMID:34975878 [Fam.F348:P348] | ||
| 101948 | F | 211950 | -,25,- | Decreased IgG levels,Hypogammaglobulinemia,Reduced IgG2 levels | PMID:34975878 [Fam.F349:P349] | ||
| 101949 | M | 211958 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F351:P351] | ||
| 101950 | F | 212045 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F372:P372] | ||
| 101951 | M | 212062 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F375:P375] | ||
| 101952 | F | 212080 | -,1 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F409:P409] | ||
| 101953 | M | 212093 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F410:P410] | ||
| 101956 | M | 211966 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F389:P389] | ||
| 101957 | M | 212517 | 26,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F391:P391] | ||
| 101959 | M | 210641 | 42 | German | Decreased IgG levels | 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)] |
| 101960 | F | 212655 | 33,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F393:P393] | ||
| 101987 | F | 214115 | - | Hypogammaglobulinemia | PMID:34390440 [NEG094] | ||
| 102138 | M | 214393 |
46 | North American | Decreased IgG levels | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:II.2(F)]; PMID:37876937 [Fam.A:II.1(A.3)] |
| 102141 | F | 214393 |
17,19 | North American | Decreased IgG levels,Reduced IgG2 levels | Immunodeficiency, common variable, 14 | PMID:27016798 [Patient(III.1)]; PMID:37876937 [Fam.A:III.1(A.1)] |
| 102142 | M | 214393 |
15,16 | North American | Decreased IgG levels,Reduced IgG2 levels | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:III.2(B)]; PMID:37876937 [Fam.A:III.2(A.2)] |
| 102157 | F | 214681 |
-,- | Italian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(R.II.5 (45))]; PMID:34111452 [R.II.5 (45)] |
| 102167 | M | 214764 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F395:P395] | ||
| 102168 | M | 214767 |
- | Georgian | Decreased IgG levels | Agammaglobulinemia 14 | PMID:33571536 [P-FR1(II.3)] |
| 102171 | F | 214852 |
0 | Japanese | Decreased IgG levels | OAS1 immunodeficiency | PMID:29455859 [Fam.B:II.1]; PMID:29185156 [P1] |
| 102175 | M | 210725 |
- | Caucasian | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [H.II.1]; PMID:29729943 [Fam.H:II.1(H.II.1 (29))]; PMID:34111452 [H.II.1 (29)] |
| 102182 | F | 214681 |
- | Italian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:III.1(R.III.1 (46))]; PMID:34111452 [R.III.1 (46)] |
| 102222 | M | 214917 | 34 | German | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
| 102224 | F | 214919 | 23 | German | Hypogammaglobulinemia | DiGeorge syndrome | PMID:35486341 [P017] |
| 102262 | F | 214927 |
0 | Japanese | Decreased IgG levels | OAS1 immunodeficiency | PMID:29455859 [Fam.C:II.1]; PMID:34145065 [P5(II.1)]; PMID:29185156 [P2] |
| 102270 | F | 214928 |
- | Japanese | Hypogammaglobulinemia | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
| 102274 | F | 214929 |
0 | German | Decreased IgG levels | OAS1 immunodeficiency | PMID:34145065 [P1(II.2)] |
| 102277 | M | 214930 |
- | North American | Decreased IgG levels | OAS1 immunodeficiency | PMID:34145065 [P2(II.1)] |
| 102281 | M | 214931 |
- | North American | Decreased IgG levels | OAS1 immunodeficiency | PMID:34145065 [P3(II.2)] |
| 102285 | F | 214932 |
0 | North American | Decreased IgG levels | OAS1 immunodeficiency | PMID:34145065 [P4(II.2)] |
| 102288 | M | 214933 |
1 | Italian | Decreased IgG levels | OAS1 immunodeficiency | PMID:34145065 [P6(II.1)] |
| 102396 | F | 214944 |
1 | Saudi | Decreased IgG levels | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.4(P5)] |
| 102421 | M | 214949 |
15 | French | Reduced IgG1 levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.1(P3)] |
| 102425 | M | 214949 |
47,47 | French | Decreased IgG levels,Reduced IgG1 levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:II.2(P2)] |
| 102426 | F | 214949 |
10 | French | Reduced IgG1 levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.2(P4)] |
| 102439 | M | 214956 |
38 | Bulgarian | Decreased IgG levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
| 102466 | M | 214962 |
2,5 | Polish | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
| 102530 | M | 214966 |
33 | Japanese | Decreased IgG levels | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
| 102626 | M | 214969 |
- | Filipino | Decreased IgG levels | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.1:II.1(P1)] |
| 102630 | M | 214970 |
3 | European | Decreased IgG levels | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
| 102633 | M | 214971 |
19 | European | Decreased IgG levels | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.3:II.1(P3)] |
| 102637 | M | 214972 |
17 | Decreased IgG levels | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
| 102645 | M | 214974 |
- | Caucasian | Decreased IgG levels | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
| 102731 | F | 214982 |
8 | Colombian | Decreased IgG levels | Immunodeficiency 99 | PMID:32484799 [Patient(II.2)] |
| 102803 | F | 214991 |
10 | North American | Hypogammaglobulinemia | Immunodeficiency 8 | PMID:25073507 [P1(II.2)] |
| 102814 | U | 214993 |
1 | Caucasian | Decreased IgG levels | SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation | PMID:16439205 [Patient]; PMID:12604777 [2BN(II.1)] |
| 102881 | F | 215003 |
0 | Portuguese | Decreased IgG levels | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.1:II.1(P1)]; PMID:33464451 [P3]; PMID:28077132 [P7]; PMID:22590644 [Patient(II.1)] |
| 102891 | F | 215006 |
1 | Indian | Decreased IgG levels | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6] |
| 102934 | F | 215035 |
- | Caucasian | Hypogammaglobulinemia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P23]; PMID:33464451 [P14(III.1)]; PMID:37419334 [P23(22)] |
| 102984 | F | 215074 |
9,- | European/American | Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
| 103072 | F | 215098 |
25 | Finnish | Decreased IgG levels | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F4:II.1(P5)] |
| 103281 | F | 215111 |
2 | Chinese (China) | Decreased IgG levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
| 103285 | F | 215112 |
1 | Ashkenazi Jewish | Decreased IgG levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:II.1(P2)] |
| 103286 | M | 215112 |
2 | Ashkenazi Jewish | Decreased IgG levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:I.1(P3)] |
| 103288 | F | 215113 |
21 | Hungarian | Decreased IgG levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.3:II.1(P4)] |
| 103292 | F | 215114 | 35 | German | Decreased IgG levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
| 103293 | M | 215115 | 44 | Decreased IgG levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P6] | |
| 103448 | F | 215129 |
16,- | Saudi | Decreased IgG levels,Hypogammaglobulinemia | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.1:II.2(P1)] |
| 103478 | M | 215135 |
- | French | Decreased IgG levels | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
| 103485 | F | 215137 |
7 | French | Hypogammaglobulinemia | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
| 103547 | M | 215157 |
11 | Mexican | Decreased IgG levels | ARPC1B deficiency | PMID:36708766 [Fam.D:II.4(P6)] |
| 103820 | M | 215254 |
11 | French | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:25278816 [Fam.F785:II.5(P1)] |
| 103830 | F | 215256 |
- | European | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.1:II.2(P1)] |
| 103834 | F | 215257 |
- | European | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.2:II.3(P2)] |
| 103839 | M | 215258 |
- | European | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.3:II.3(P3)] |
| 103844 | F | 215259 |
- | European | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.4:II.2(P4)] |
| 103848 | M | 215260 |
- | European | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.5:II.1(P5)] |
| 103877 | F | 215266 |
12,12 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
| 103880 | F | 215269 |
-,- | Finnish | Decreased IgG levels,Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
| 103997 | M | 215318 |
-,- | Decreased IgG levels,Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
| 103998 | M | 215319 |
- | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P2] | |
| 103999 | M | 215320 |
-,- | Decreased IgG levels,Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P3] | |
| 104000 | M | 215321 | -,- | Decreased IgG levels,Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P4] | |
| 104001 | F | 215322 |
-,- | North American | Decreased IgG levels,Hypogammaglobulinemia | 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 |
-,- | Decreased IgG levels,Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
| 104004 | F | 215325 | - | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P8] | |
| 104005 | F | 215326 |
- | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4] | |
| 104007 | M | 215326 |
- | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:I.2(P10)]; PMID:35677041 [Pt5] | |
| 104268 | M | 215444 |
- | Ashkenazi Jewish | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
| 104403 | M | 215524 |
2 | Asian | Decreased IgG levels | Early-onset atopic inflammation | PMID:36216080 [Index(III.1)] |
| 104409 | F | 215524 |
1 | Asian | Decreased IgG levels | Early-onset atopic inflammation | PMID:36216080 [Fam.Index:III.3(sister2)] |
| 104481 | M | 215536 |
10 | Caucasian | Hypogammaglobulinemia | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.2(P14)] |
| 104491 | M | 215536 |
8 | Caucasian | Hypogammaglobulinemia | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.3(P15)] |
| 104534 | M | 215546 |
- | Caucasian | Decreased IgG levels | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.C:II.1(Patient C)] |
| 104541 | M | 215550 |
- | North African | Decreased IgG levels | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.G:II.1(Patient G)] |
| 104630 | M | 215560 |
- | Decreased IgG levels | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.C:II.2(P3)] | |
| 104733 | F | 215572 |
- | French | Decreased IgG levels | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:II.16] |
| 104773 | F | 215572 |
- | French | Decreased IgG levels | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.7] |
| 104782 | M | 215572 |
- | French | Decreased IgG levels | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:V.2] |
| 104786 | F | 215573 |
13 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)] | |
| 104787 | M | 215573 |
40 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
| 104790 | M | 215574 |
- | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
| 104797 | M | 215577 |
- | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
| 104838 | M | 215578 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56]; PMID:34111452 [F.II.1 (24)] |
| 104842 | M | 215579 |
-,- | European | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.1(II.1)]; PMID:26279205 [Fam.NZ:II.1(II1)]; PMID:29403474 [Fam.NZ (5):II.1(II1)]; PMID:29806948 [Fam.NZ:II.1(II.1)]; PMID:30323807 [Fam.2:II.1(II.1)]; PMID:150198 [Fam.AC:II.1(108)] |
| 104845 | F | 215579 |
- | European | Hypogammaglobulinemia | 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)] |
| 104864 | F | 215598 |
- | Hypogammaglobulinemia | Immunodeficiency, common variable, 14 | PMID:33864888 [S125]; PMID:37876937 [Fam.B:II.1(B.1)] | |
| 104876 | F | 215579 |
- | European | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:III.1(III.1)]; PMID:26279205 [Fam.NZ:III.1(III1)]; PMID:29806948 [Fam.NZ:III.1(III.1)]; PMID:30323807 [Fam.2:III.1(III.1)]; PMID:150198 [Fam.AC:III.1(112)] |
| 104886 | F | 215613 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)]; PMID:34111452 [G.III.1 (26)] |
| 104923 | M | 215620 |
- | Decreased IgG levels | Immunodeficiency, common variable, 14 | PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)] | |
| 104932 | F | 215622 |
59 | Dutch | Decreased IgG levels | 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)] |
| 104942 | F | 215622 |
-,- | Dutch | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.18(III.18)]; PMID:26279205 [Fam.NL1:III.19(57)]; PMID:29403474 [Fam.NL1 (5):III.19(57)]; PMID:150198 [Fam.AA:III.19(045)]; PMID:35242131 [Fam.2:I.1(P2)] |
| 104953 | F | 215622 |
59 | Dutch | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.14(II.14)]; PMID:26279205 [Fam.NL1:II.18(16)]; PMID:29403474 [Fam.NL1 (5):II.18(16)]; PMID:11583829 [Fam.1:II.17(II:17)]; PMID:16639407 [Fam.1:II.18(16)]; PMID:150198 [Fam.AA:II.18(020)] |
| 104956 | F | 215622 |
63 | Dutch | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.18(II.18)]; PMID:26279205 [Fam.NL1:II.22(19)]; PMID:29403474 [Fam.NL1 (5):II.22(19)]; PMID:11583829 [Fam.1:II.21(II:21)]; PMID:16639407 [Fam.1:II.22(19)]; PMID:150198 [Fam.AA:II.22(024)] |
| 104959 | F | 215622 |
- | Dutch | Reduced IgG2 levels | PMID:32278790 [Fam.NA:III.1(III.1)]; PMID:26279205 [Fam.NL1:III.1(23)]; PMID:29403474 [Fam.NL1 (5):III.1(23)]; PMID:11583829 [Fam.1:III.1(III:1)]; PMID:16639407 [Fam.1:III.1(23)]; PMID:150198 [Fam.AA:III.1(027)] | |
| 104960 | F | 215622 |
50 | Dutch | Reduced IgG2 levels | PMID:32278790 [Fam.NA:III.2(III.2)]; PMID:26279205 [Fam.NL1:III.2(24)]; PMID:29403474 [Fam.NL1 (5):III.2(24)]; PMID:11583829 [Fam.1:III.2(III:2)]; PMID:16639407 [Fam.1:III.2(24)]; PMID:150198 [Fam.AA:III.2(028)] | |
| 104962 | F | 215622 |
52 | Dutch | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.3(III.3)]; PMID:26279205 [Fam.NL1:III.4(25)]; PMID:29403474 [Fam.NL1 (5):III.4(25)]; PMID:11583829 [Fam.1:III.3(III:3)]; PMID:16639407 [Fam.1:III.4(25)]; PMID:150198 [Fam.AA:III.4(030)] |
| 104970 | M | 215622 |
41 | Dutch | Reduced IgG2 levels | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.13(III.13)]; PMID:26279205 [Fam.NL1:III.12(34)]; PMID:29403474 [Fam.NL1 (5):III.12(34)]; PMID:11583829 [Fam.1:III.12(III:12)]; PMID:16639407 [Fam.1:III.12(34)]; PMID:150198 [Fam.AA:III.12(038)] |
| 104972 | F | 215622 |
30 | Dutch | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.14(III.14)]; PMID:26279205 [Fam.NL1:III.14(36)]; PMID:29403474 [Fam.NL1 (5):III.14(36)]; PMID:11583829 [Fam.1:III.14(III:14)]; PMID:16639407 [Fam.1:III.14(36)]; PMID:27923702 [Patient 4]; PMID:27555455 [Patient 2]; PMID:150198 [Fam.AA:III.14(040)] |
| 104985 | F | 215622 |
-,- | Dutch | Hypogammaglobulinemia,Reduced IgG2 levels | PMID:32278790 [Fam.NA:IV.3(IV.3)]; PMID:26279205 [Fam.NL1:IV.4(46)]; PMID:11583829 [Fam.1:IV.3(IV:2)]; PMID:16639407 [Fam.1:IV.4(46)]; PMID:150198 [Fam.AA:IV.4(060)] | |
| 104987 | F | 215622 |
-,21,21 | Dutch | Decreased IgG levels,Hypogammaglobulinemia,Reduced IgG2 levels | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.6(IV.6)]; PMID:26279205 [Fam.NL1:IV.6(48)]; PMID:29403474 [Fam.NL1 (5):IV.6(48)]; PMID:11583829 [Fam.1:IV.5(IV:5)]; PMID:16639407 [Fam.1:IV.5(48)]; PMID:150198 [Fam.AA:IV.6(062)] |
| 104989 | F | 215622 |
2,15 | Dutch | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.7(IV.7)]; PMID:26279205 [Fam.NL1:IV.8(49)]; PMID:29403474 [Fam.NL1 (5):IV.8(49)]; PMID:11583829 [Fam.1:IV.6(IV:6)]; PMID:16639407 [Fam.1:IV.6(49)]; PMID:150198 [Fam.AA:IV.8(064)] |
| 104994 | F | 215622 |
29,- | Dutch | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.11(IV.10)]; PMID:26279205 [Fam.NL1:IV.13(62)]; PMID:29403474 [Fam.NL1 (5):IV.13(62)]; PMID:150198 [Fam.AA:IV.14(070)]; PMID:35242131 [Fam.2:II.1(P9)] |
| 105001 | F | 215622 |
- | Dutch | Decreased IgG levels | PMID:32278790 [Fam.NA:V.3(V.3)]; PMID:26279205 [Fam.NL1:V.3(54)]; PMID:11583829 [Fam.1:V.3(V:3)]; PMID:16639407 [Fam.1:V.3(54)]; PMID:150198 [Fam.AA:V.3(078)] | |
| 105004 | M | 215622 |
- | Dutch | Reduced IgG2 levels | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.23(III.23)]; PMID:26279205 [Fam.NL1:III.25(38)]; PMID:11583829 [Fam.1:III.16(III:16)]; PMID:16639407 [Fam.1:III.16(38)]; PMID:150198 [Fam.AA:III.25(051)] |
| 105005 | F | 215622 |
- | Dutch | Reduced IgG2 levels | PMID:32278790 [Fam.NA:III.24(III.24)]; PMID:26279205 [Fam.NL1:III.26(39)]; PMID:11583829 [Fam.1:III.17(III:17)]; PMID:16639407 [Fam.1:III.17(39)]; PMID:150198 [Fam.AA:III.26(052)] | |
| 105007 | F | 215622 |
35,- | Dutch | Decreased IgG levels,Reduced IgG2 levels | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.26(III.26)]; PMID:26279205 [Fam.NL1:III.28(40)]; PMID:29403474 [Fam.NL1 (5):III.28(40)]; PMID:11583829 [Fam.1:III.18(III:18)]; PMID:16639407 [Fam.1:III.19(40)]; PMID:150198 [Fam.AA:III.28(054)] |
| 105008 | F | 215622 |
38 | Dutch | Reduced IgG2 levels | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.27(III.27)]; PMID:26279205 [Fam.NL1:III.29(42)]; PMID:29403474 [Fam.NL1 (5):III.29(42)]; PMID:11583829 [Fam.1:III.20(III:20)]; PMID:16639407 [Fam.1:III.20(42)]; PMID:150198 [Fam.AA:III.29(055)] |
| 105034 | F | 215628 |
-,19 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
| 105043 | F | 215630 |
17 | Caucasian | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [BBB.II.1 (131)]; PMID:34111452 [CH.II.1 (131)] |
| 105045 | M | 215631 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10]; PMID:29729943 [CCC.II.1 (132)]; PMID:34111452 [CI.II.1 (132)] |
| 105050 | F | 215633 | - | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Patient 2]; PMID:31857100 [P2] | |
| 105051 | F | 215634 |
14 | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:29180260 [Patient(II.1)] | |
| 105057 | F | 215635 |
-,22 | German | Decreased IgG levels,Hypogammaglobulinemia | 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)] |
| 105075 | M | 215636 | -,- | Spanish | Decreased IgG levels,Hypogammaglobulinemia | Combined immunodeficiency 36 | PMID:35464398 [P5(II.1)] |
| 105088 | M | 215638 |
-,- | Japanese | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26644313 [Fam.P:II.3(case)]; PMID:30250467 [M.II.3]; PMID:29729943 [M.II.3 (37)]; PMID:27418640 [P21(16)]; PMID:34111452 [M.II.3 (37)]; PMID:35087518 [11.1] |
| 105102 | M | 215640 |
- | European | Decreased IgG levels | 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 |
-,-,15 | Caucasian | Decreased IgG levels,Hypogammaglobulinemia,Reduced IgG2 levels | 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)] |
| 105108 | M | 215643 |
-,- | Caucasian | Decreased IgG levels,Reduced IgG1 levels | NFKB1 insufficiency | PMID:32278790 [Fam.AB:I.2(I.2)]; PMID:29403474 [Fam.(7):I.1(Father)]; PMID:27338827 [Fam.1:I.2(I-2)]; PMID:150198 [Fam.AD:I.1(115)] |
| 105130 | F | 215647 |
- | North American | Decreased IgG levels | NFKB1 insufficiency | PMID:27379089 [Fam.P1:c2(P2)]; PMID:32278790 [Fam.BA:II.2(II.2)]; PMID:29403474 [Fam.(10):c2(Patient 2)]; PMID:150198 [Fam.AG:IV.2(144)] |
| 105131 | M | 215648 | 7 | Italian | Decreased IgG levels | 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 | Decreased IgG levels | 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 | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
| 105149 | M | 215654 |
- | Chinese (China) | Decreased IgG levels | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
| 105172 | M | 215659 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [T.II.1 (48)]; PMID:27102614 [Fam.A:II.1(P1)]; PMID:34111452 [T.II.1 (48)]; PMID:39218359 [6] |
| 105176 | F | 215661 |
7,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(P3)]; PMID:34111452 [L.II.1 (35)]; PMID:39218359 [3] |
| 105177 | M | 215661 |
16,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | 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(P4)]; PMID:34111452 [L.II.2 (36)]; PMID:39218359 [20] |
| 105179 | F | 215661 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)]; PMID:34111452 [L.I.2 (34)] |
| 105180 | M | 215662 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [S.II.1 (47)]; PMID:27102614 [Fam.D:II.1(P5)]; PMID:34111452 [S.II.1 (47)]; PMID:39218359 [4] |
| 105190 | F | 215664 |
28 | Caucasian | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.F:II.1(P7)] |
| 105191 | F | 215664 |
26 | Caucasian | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.F:II.2(P8)] |
| 105194 | M | 215665 |
- | Iranian | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
| 105197 | M | 215666 |
25,25 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.3(III.3)]; PMID:29403474 [Fam.1 (9):III.3(F1.III-3)]; PMID:28115215 [Fam.1:III.3(F1.III-3)]; PMID:150198 [Fam.AQ:III.3(177)]; PMID:36356849 [Fam.6:III.3(F6:III:3)]; PMID:36105815 [Fam.H67R:III.3(H67R/4)] |
| 105204 | M | 215670 |
0 | Decreased IgG levels | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.1:II.1(G.M.)] | |
| 105212 | F | 215666 |
44,44 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)] |
| 105214 | F | 215666 |
29,25,- | Finnish | Decreased circulating IgG subclass level,Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.2(III.2)]; PMID:29403474 [Fam.1 (9):III.2(F1.III-2)]; PMID:28115215 [Fam.1:III.2(F1.III-2)]; PMID:150198 [Fam.AQ:III.2(176)]; PMID:36356849 [Fam.6:III.2(F6:III:2)]; PMID:36105815 [Fam.H67R:III.2(H67R/3)] |
| 105218 | F | 215666 |
26,25 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.6(III.6)]; PMID:29403474 [Fam.1 (9):III.6(F1.III-6)]; PMID:28115215 [Fam.1:III.6(F1.III-6)]; PMID:150198 [Fam.AQ:III.6(180)]; PMID:36356849 [Fam.6:III.6(F6:III:6)]; PMID:36105815 [Fam.H67R:III.6(H67R/5)] |
| 105220 | F | 215666 |
13,13 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | 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)] |
| 105221 | M | 215666 |
-,10 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:IV.2(IV.2)]; PMID:28115215 [Fam.1:IV.1(F1.IV-1)]; PMID:150198 [Fam.AQ:IV.1(183)]; PMID:36356849 [Fam.6:IV.1(F6:IV:1)]; PMID:36105815 [Fam.H67R:IV.1(H67R/8)] |
| 105222 | F | 215666 |
-,2 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:IV.1(IV.1)]; PMID:29403474 [Fam.1 (9):IV.2(F1.IV-2)]; PMID:28115215 [Fam.1:IV.2(F1.IV-2)]; PMID:150198 [Fam.AQ:IV.2(184)]; PMID:36356849 [Fam.6:IV.2(F6:IV:2)]; PMID:36105815 [Fam.H67R:IV.2(H67R/9)] |
| 105225 | F | 215671 |
36 | Finnish | Reduced IgG3 levels | NFKB1 insufficiency | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
| 105226 | M | 215671 |
- | Finnish | Hypogammaglobulinemia | PMID:32278790 [Fam.F2:I.1(I.1)]; PMID:28115215 [Fam.2:I.1(F2.I-1)]; PMID:150198 [Fam.AR:I.1(187)]; PMID:36356849 [Fam.5:I.1(F5:I:1)] | |
| 105232 | M | 215672 |
- | Finnish | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.1(II.1)]; PMID:29403474 [Fam.3 (9):II.1(F3.II-1)]; PMID:28115215 [Fam.3:II.1(F3.II-1)]; PMID:150198 [Fam.AS:II.1(196)]; PMID:36356849 [Fam.3:II.1(F3:II:1)]; PMID:36892687 [II:1(II.1)]; PMID:38593810 [Fam.1:II.1(F1.II-1)] |
| 105234 | F | 215672 |
- | Finnish | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.F3:I.2(I.2)]; PMID:28115215 [Fam.3:I.2(F3.I-2)]; PMID:150198 [Fam.AS:I.2(195)]; PMID:36356849 [Fam.3:I.2(F3:I:2)]; PMID:36892687 [I:2(I.2)]; PMID:38593810 [Fam.1:I.2(F1.I-2)] |
| 105245 | M | 215674 |
- | Caucasian | Decreased IgG levels | NFKB1 insufficiency | PMID:29077208 [P2]; 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 |
9 | Caucasian | Decreased IgG levels | NFKB1 insufficiency | PMID:29077208 [P3]; 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)] |
| 105256 | F | 210008 |
40 | German | Hypogammaglobulinemia | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
| 105273 | F | 215682 |
18 | North American | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | GRID:000111 [Patient(I.1)]; PMID:34111452 [Fam.BI:I.1(BI.II.1 (146))] |
| 105279 | F | 215685 |
- | European | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.B:II.1(II.1)]; PMID:29477724 [Fam.B:II.1(II:1)]; PMID:150198 [Fam.AV:II.1(244)] |
| 105280 | M | 215685 |
- | European | Decreased IgG levels | 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)] |
| 105284 | F | 215640 |
- | European | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.A:II.1(II.1)]; PMID:29477724 [Fam.A:II.1(II:1)]; PMID:150198 [Fam.AU:II.2(230)] |
| 105296 | F | 215686 |
- | European | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.C:I.2(I.2)]; PMID:29477724 [Fam.C:I.2(I:2)]; PMID:150198 [Fam.AW:I.2(246)] |
| 105301 | M | 215686 |
- | European | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)] |
| 105302 | M | 215686 |
- | European | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)] |
| 105306 | M | 215686 |
- | European | Reduced IgG2 levels | NFKB1 insufficiency | PMID:32278790 [Fam.C:III.3(III.3)]; PMID:29477724 [Fam.C:III.3(III:3)]; PMID:150198 [Fam.AW:III.3(255)] |
| 105307 | M | 215686 |
-,- | European | Decreased IgG levels,Reduced IgG2 levels | NFKB1 insufficiency | PMID:32278790 [Fam.C:III.4(III.4)]; PMID:29477724 [Fam.C:III.4(III:4)]; PMID:150198 [Fam.AW:III.4(256)] |
| 105308 | F | 215687 |
-,- | European | Decreased IgG levels,Hypogammaglobulinemia | 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 |
-,- | European | Decreased IgG levels,Hypogammaglobulinemia | 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)] |
| 105314 | F | 215689 | - | European | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [F.II.1]; PMID:29477724 [Fam.F:II.1(II:1)]; PMID:150198 [Fam.AZ:265]; PMID:36105815 [V98D] |
| 105315 | F | 215690 | - | European | Decreased IgG levels | 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 | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
| 105317 | M | 215692 |
- | European | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)] |
| 105331 | M | 215693 |
- | European | Hypogammaglobulinemia | PMID:32278790 [Fam.L:II.2(II.2)]; PMID:29477724 [Fam.L:II.2(II:2)]; PMID:150198 [Fam.BF:II.2(284)] | |
| 105332 | U | 215694 | - | European | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
| 105333 | F | 215695 | -,- | European | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [N.II.1]; PMID:29477724 [Fam.N:II.1(II:1)]; PMID:150198 [Fam.BH:286] |
| 105334 | F | 215696 | - | Indian | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [O.II.1]; PMID:29477724 [Fam.O:II.1(II:1)]; PMID:150198 [Fam.BI:287] |
| 105335 | U | 215697 | - | European | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
| 105336 | M | 215698 | 45,45 | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [AAA.II.1 (130)]; PMID:27908448 [Patient]; PMID:34111452 [BA.II.1 (130)] |
| 105337 | U | 215699 | - | European | Decreased IgG levels | 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 | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
| 105339 | F | 215701 |
- | Pakistani | Hypogammaglobulinemia | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.4(P1)] |
| 105341 | F | 215703 | 0 | Hypogammaglobulinemia | Immunodeficiency 84 | PMID:34694366 [Fam.1:III.1(p1)] | |
| 105347 | M | 215709 | 0 | Hypogammaglobulinemia | Combined immunodeficiency with skin-hair depigmentation | PMID:36917008 [P1(II.-)] | |
| 105370 | F | 215725 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [15.1]; PMID:34111452 [Z.III.1 (67)] |
| 105399 | F | 215750 | - | Chinese (China) | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:34291137 [Fam.A:II.1(P1)] |
| 105400 | M | 215751 | - | Turkish | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:32219082 [Patient 1] |
| 105412 | F | 215762 |
11,11 | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | 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)] |
| 105413 | F | 215763 |
- | Reduced IgG2 levels | Immunodeficiency 107 | PMID:38914362 [Fam.P:II.1(116)]; PMID:38129331 [case(II.1)] | |
| 105416 | F | 215764 |
- | Chinese (China) | Decreased IgG levels | NFKB1 insufficiency | PMID:30363934 [case 3(I.2)]; PMID:150198 [Fam.BN:I.2(303)] |
| 105424 | M | 215766 |
1 | Admixed | Hypogammaglobulinemia | 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 |
2 | Admixed | Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)] |
| 105433 | F | 215768 |
- | Danish | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y] |
| 105437 | M | 215769 |
- | Caucasian | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.AT:II.3(II.3)]; PMID:150198 [Fam.BT:III.3(329)]; PMID:31803180 [Fam.C:II.3(S5)]; PMID:34619682 [P.183] |
| 105446 | M | 215769 |
- | Caucasian | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.AT:II.2(II.2)]; PMID:150198 [Fam.BT:III.4(330)]; PMID:31803180 [Fam.C:II.4(S6)]; PMID:34619682 [P.114] |
| 105450 | F | 215770 |
- | Caucasian | Decreased IgG levels | 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 |
- | Caucasian | Decreased IgG levels | 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 | Decreased IgG levels | 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 | Decreased IgG levels | 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] |
| 105465 | M | 215772 |
32 | Russian | Reduced IgG2 levels | NFKB1 insufficiency | PMID:150198 [Fam.BS:II.1(319)]; PMID:31803180 [Fam.B:II.1(S3)] |
| 105466 | M | 215772 |
18,- | Russian | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.BS:II.2(320)]; PMID:31803180 [Fam.B:II.2(S4)] |
| 105467 | M | 215773 | 6 | Hypogammaglobulinemia | Angioedema, hereditary, types I and II | PMID:17137866 [Fam.1:IV.2(IV.2)] | |
| 105475 | F | 215776 |
- | European | Hypogammaglobulinemia | Ezrin immunodeficiency | PMID:37301410 [P1(II.4)] |
| 105481 | M | 215777 |
-,- | Haitian/Hispanic | Decreased IgG levels,Hypogammaglobulinemia | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.A:II.1(A.1)] |
| 105487 | F | 215780 |
- | Afro-American | Decreased IgG levels | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.G:II.1(G.1)] |
| 105509 | M | 215784 |
- | Caucasian | Decreased IgG levels | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:II.1(D.II.1)] |
| 105528 | F | 215788 | - | North American | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P6] |
| 105529 | M | 215789 | - | North American | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P7] |
| 105530 | F | 215790 | - | North American | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P8] |
| 105533 | M | 215791 |
44 | Portuguese | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient] |
| 105542 | M | 215796 | 49,- | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29077208 [P20]; PMID:28983403 [P6]; PMID:34111452 [BL.II.1 (149)]; PMID:37740092 [P04] | |
| 105543 | M | 215797 | 40,- | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29077208 [P16]; PMID:28983403 [P7]; PMID:34111452 [BM.II.1 (150)] | |
| 105546 | M | 215800 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29867916 [N211(II.1)]; PMID:29729943 [O.II.1 (42)]; PMID:34111452 [O.II.1 (42)]; PMID:39218359 [38] |
| 105549 | F | 215801 |
21 | Caucasian | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.1:IV.1(P1)] |
| 105562 | M | 215805 | 4 | Turkish | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
| 105564 | M | 215807 |
-,0 | Spanish | Decreased IgG levels,Hypogammaglobulinemia | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
| 105591 | F | 215821 | - | Caucasian | Decreased IgG levels | Activated p110-delta syndrome 1 | PMID:24610295 [Fam.2:II.1(F2P2)] |
| 105626 | M | 215822 | - | Caucasian | Decreased IgG levels | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.1(P3)] |
| 105630 | M | 215824 | 1 | Hypogammaglobulinemia | Immunodeficiency 84 | PMID:34694366 [Fam.1:II.2(p2)] | |
| 105633 | F | 215827 | - | Hypogammaglobulinemia | Immunodeficiency 84 | PMID:34694366 [Fam.1:II.1(p3)] | |
| 105635 | F | 215829 | - | Caucasian | Hypogammaglobulinemia | Activated p110-delta syndrome 1 | PMID:26371693 [1] |
| 105641 | F | 215831 |
- | Chinese (China) | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:30363934 [case 1(I.2)] |
| 105646 | M | 215703 | - | Hypogammaglobulinemia | Immunodeficiency 84 | PMID:34694366 [Fam.1:I.1(p4)] | |
| 105657 | F | 215835 | - | North American | Decreased IgG levels | Activated p110-delta syndrome 1 | PMID:27379089 [P11] |
| 105659 | F | 215836 | - | Decreased IgG levels | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
| 105660 | F | 215836 | 1 | Decreased IgG levels | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.3(Sibling 3)] | |
| 105666 | M | 215672 |
- | Finnish | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.F3:III.2(III.2)]; PMID:150198 [Fam.AS:III.8(217)]; PMID:36356849 [Fam.3:III.8(F3:III:8)]; PMID:36892687 [III:2(III.2)]; PMID:38593810 [Fam.1:III.8(F1.III-8)] |
| 105679 | M | 215839 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
| 105690 | F | 215840 |
7 | Caucasian | Hypogammaglobulinemia | 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)] |
| 105694 | F | 215842 |
20 | German | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.Y:II.1(Y.II.1)]; PMID:150198 [Fam.CG:II.1(423)] |
| 105699 | F | 211370 |
- | Turkish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.AJ:II.2(II.2)]; PMID:150198 [Fam.BZ:II.2(368)]; GRID:001142 [Fam.*:II.2(FR098)] |
| 105702 | F | 211370 |
49 | Turkish | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.AJ:II.5(II.5)]; PMID:150198 [Fam.BZ:II.6(372)]; GRID:001142 [Fam.+:II.6(FR101)] |
| 105715 | F | 211370 |
- | Turkish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.AJ:III.3(III.3)]; PMID:150198 [Fam.BZ:III.3(382)]; GRID:001142 [Fam.*:III.3(FR097.2)] |
| 105751 | M | 215854 | 15 | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
| 105755 | F | 215858 | 1 | Russian | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441] |
| 105757 | F | 215860 | - | North American | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [BJ.I.1]; PMID:150198 [Fam.CX:443] |
| 105761 | F | 215851 |
71 | Finnish | Decreased IgG levels | Immunodeficiency, common variable, 14 | PMID:34451894 [Fam.Patient:II.1(sister)]; PMID:37876937 [Fam.C:II.1(C.2)] |
| 105767 | M | 211008 |
60,60 | Caucasian | Decreased IgG levels,Reduced IgG2 levels | NFKB1 insufficiency | PMID:32278790 [Fam.BS:I.1(I.1)]; PMID:150198 [Fam.DD:I.1(455)]; PMID:36105815 [Fam.M216V:I.1(M216V/2)] |
| 105769 | F | 210925 |
- | Turkish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.BT:I.1(I.1)]; PMID:150198 [Fam.DE:I.2(459)]; PMID:36105815 [Fam.R230K:I.1(R230K/1)] |
| 105771 | F | 210925 |
- | Turkish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.BT:II.2(II.3)]; PMID:150198 [Fam.DE:II.2(461)]; PMID:36105815 [Fam.R230K:II.2(R230K/3)] |
| 105772 | F | 210925 |
- | Turkish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.BT:II.3(II.2)]; PMID:150198 [Fam.DE:II.3(462)]; PMID:36105815 [Fam.R230K:II.3(R230K/4)] |
| 105773 | M | 215866 | -,63 | German | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
| 105774 | F | 215867 | - | German | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [BV.I.1]; PMID:150198 [Fam.DG:464]; PMID:36105815 [P246T] |
| 105775 | F | 215868 | 26 | German | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
| 105777 | M | 215870 | 2 | Iranian | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [CA.I.1]; PMID:150198 [Fam.DL:469]; PMID:36105815 [Fam.K326N/CA:K326N/2] |
| 105778 | F | 215871 |
7 | Spanish | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)] |
| 105783 | F | 215876 |
12 | Caucasian | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
| 105793 | M | 215877 |
- | Spanish | Decreased IgG levels | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:I.2(1.2)] |
| 105794 | M | 215878 |
- | Spanish | Decreased IgG levels | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.2:II.1(2.1)] |
| 105800 | M | 215882 | - | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S112] | |
| 105839 | M | 215888 |
-,- | Romani | Decreased IgG levels,Reduced IgG2 levels | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.3:II.1(3.1)] |
| 105844 | M | 215889 |
- | Spanish | Decreased IgG levels | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.4:II.1(4.1)] |
| 105850 | F | 215891 |
- | Hypogammaglobulinemia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:33864888 [S066(II.6)] | |
| 105862 | F | 215894 |
- | British | Decreased IgG levels | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:II.3(554)]; PMID:150198 [Fam.EA:II.3(554)]; PMID:34922003 [Fam.A:II.3(A2)]; PMID:34922003 [Fam.A:II.3(A2)] |
| 105865 | M | 215894 |
1 | British | Decreased IgG levels | Immunodeficiency, common variable, 2 | PMID:150198 [Fam.EA:III.1(556)]; PMID:34922003 [Fam.A:III.1(A4)] |
| 105894 | F | 215900 |
- | North American | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.DW:I.2(537)]; PMID:34307247 [Fam.1:I.2(mother)] |
| 105898 | F | 215901 |
- | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.DY:II.1(544)]; PMID:34825039 [Fam.1:II.1(index)] | |
| 105899 | F | 215900 |
-,- | North American | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.DW:II.1(538)]; PMID:34307247 [Fam.1:II.1(daughter1)]; PMID:28802957 [Fam.1:II.1(II.1)] |
| 105910 | F | 215905 | - | Caucasian | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [K.II.1 (33)]; PMID:34111452 [K.II.1 (33)] |
| 105926 | M | 215909 |
-,- | Japanese | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:34111452 [N.III.2 (41)]; PMID:35087518 [Fam.12:III.2(12.4)] |
| 105934 | M | 215910 |
0 | Decreased IgG levels | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.2:II.1(C.M.)]; PMID:8676091 [Fam.1:II.1(C.M.)] | |
| 105947 | M | 215913 |
- | Caucasian | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.EC:I.1(560)]; PMID:36105815 [Fam.R231C:I.1(R231C/1)]; PMID:35003082 [Fam.1:I.1(P1/S.1)] |
| 105949 | M | 215913 |
- | Caucasian | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.EC:II.2(563)]; PMID:36105815 [Fam.R231C:II.2(R231C/3)]; PMID:35003082 [Fam.1:II.2(P3/S.3)]; PMID:34619682 [P.233] |
| 105957 | M | 215914 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P.II.2 (43)]; PMID:34111452 [P.II.2 (43)]; PMID:39218359 [12] |
| 105968 | M | 215916 |
-,- | Japanese | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.U:II.1(U.II.1 (50))]; PMID:30048690 [Fam.1:II.1(P1.2)]; PMID:34111452 [U.II.1 (50)]; PMID:35087518 [Fam.13:II.1(13.2)]; PMID:28960754 [CTLA4-Case1] |
| 105974 | M | 215918 |
-,- | Japanese | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:I.1(W.I.1 (54))]; PMID:30048690 [Fam.2:I.1(P2.1)]; PMID:34111452 [W.I.1 (54)]; PMID:35087518 [Fam.15:I.1(15.1)] |
| 105976 | M | 215918 |
- | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:34111452 [W.II.1 (55)]; PMID:35087518 [Fam.15:II.1(15.2)] |
| 105977 | F | 215918 |
9,- | Japanese | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:34111452 [W.II.2 (56)]; PMID:35087518 [Fam.15:II.2(15.3)] |
| 105978 | F | 215918 |
- | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.3(W.II.3 (57))]; PMID:30048690 [Fam.2:II.3(P2.3)]; PMID:34111452 [W.II.3 (57)]; PMID:35087518 [Fam.15:II.3(15.4)] |
| 105981 | M | 215919 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))]; PMID:34111452 [Y.II.1 (61)]; PMID:39218359 [8] |
| 105985 | F | 215920 |
- | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.BB:II.2(BB.II.2 (72))]; PMID:30048690 [Fam.6:II.2(P6.2)]; PMID:34111452 [AB.II.2 (72)]; PMID:35087518 [Fam.17:II.2(17.3)] |
| 105986 | F | 215921 |
-,- | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
| 105990 | F | 215921 |
- | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.FG:III.1(631)]; PMID:36203612 [Fam.1:III.1(1.III.1)] | |
| 105991 | M | 215922 |
-,55 | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FH:II.1(634)]; PMID:36203612 [Fam.2:II.2(2.II.1)] | |
| 105995 | M | 215922 |
-,- | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FH:II.3(636)]; PMID:36203612 [Fam.2:II.3(2.II.2)] | |
| 105999 | F | 215922 |
-,- | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)] | |
| 106017 | M | 215725 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:II.3(Z.II.2 (64))]; PMID:34111452 [Z.II.2 (64)] |
| 106023 | M | 215923 |
18,- | Japanese | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AA:IV.1(AA.IV.1 (69))]; PMID:30048690 [Fam.4:IV.1(P4.2)]; PMID:34111452 [AA.IV.1 (69)]; PMID:35087518 [Fam.16:IV.1(16.2)] |
| 106036 | F | 215924 | -,- | Japanese | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [CC.II.1 (73)]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:34111452 [AC.II.1 (73)]; PMID:35087518 [18.1] |
| 106041 | M | 215926 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [EE.II.1 (76)]; PMID:34111452 [AE.II.1 (76)] |
| 106042 | M | 215927 | - | North American | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [FF.II.1]; PMID:29729943 [FF.II.1 (77)]; PMID:34111452 [AF.II.1 (77)] |
| 106043 | F | 215928 | - | Afro-American | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [HH.II.1 (82)]; PMID:34111452 [AH.II.1 (82)] |
| 106044 | F | 215929 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))]; PMID:34111452 [AK.II.1 (85)]; PMID:37740092 [P14] |
| 106047 | F | 215930 | -,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [LL.II.1 (86)]; PMID:34111452 [AL.II.1 (86)]; PMID:39218359 [13] |
| 106048 | M | 210991 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:I.1(NN.I.1 (88))]; PMID:34111452 [AN.I.1 (88)] |
| 106057 | F | 210991 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))]; PMID:34111452 [AN.II.6 (90)] |
| 106060 | F | 210991 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))]; PMID:34111452 [AN.II.8 (91)] |
| 106068 | M | 215931 | -,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [PP.II.1 (96)]; PMID:34111452 [AP.II.1 (96)] |
| 106069 | F | 215932 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [RR.II.1 (98)]; PMID:34111452 [AR.II.1 (98)]; PMID:28601686 [P9(II.1)] |
| 106070 | F | 215933 | -,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [SS.II.1 (99)]; PMID:34111452 [AS.II.1 (99)]; PMID:30087679 [S6] |
| 106075 | M | 215934 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.2(TT.II.2 (101))]; PMID:34111452 [AT.II.2 (101)] |
| 106077 | M | 215934 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))]; PMID:34111452 [AT.II.4 (103)]; PMID:39218359 [25] |
| 106084 | F | 215940 | - | Hypogammaglobulinemia | 4q24 deletion syndrome | PMID:150198 [Fam.EN:591]; PMID:35784294 [303816] | |
| 106094 | M | 215947 |
- | Saudi | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))]; PMID:34111452 [AV.II.1 (124)] |
| 106099 | M | 210955 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))]; PMID:34111452 [AZ.II.1 (129)] |
| 106100 | F | 215949 | -,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [DDD.II.1 (133)]; PMID:34111452 [CJ.II.1 (133)] |
| 106106 | F | 215951 |
- | Iranian | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FF:II.1(626)]; PMID:36113674 [P5(II.1)] |
| 106109 | M | 215952 |
4 | Iranian | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
| 106173 | M | 215972 | - | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FJ:661]; PMID:34619682 [P.254] | |
| 106193 | M | 215974 |
- | Finnish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FL:III.8(678)]; PMID:36356849 [Fam.1:III.8(F1:III:8)] |
| 106200 | F | 215975 |
- | Finnish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.2(693)]; PMID:36356849 [Fam.2:III.2(F2:III:2)] |
| 106209 | F | 215975 |
53,- | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
| 106216 | F | 215975 |
-,41 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.2(701)]; PMID:36356849 [Fam.2:IV.2(F2:IV:2)] |
| 106222 | F | 215975 |
54,- | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.8(707)]; PMID:36356849 [Fam.2:IV.8(F2:IV:8)] |
| 106223 | M | 215976 |
-,44 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | 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)] |
| 106240 | F | 215977 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.14(UU.IV.12 (120))]; PMID:29305966 [Fam.1:IV.2(IV.2)]; PMID:34111452 [AU.IV.12 (120)] |
| 106246 | F | 215977 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.1:III.2(III.2)]; PMID:34111452 [AU.III.7 (111)] |
| 106249 | F | 215977 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.9(UU.III.6 (110))]; PMID:29305966 [Fam.1:III.5(III.6)]; PMID:34111452 [AU.III.6 (110)] |
| 106251 | M | 215977 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.13(UU.III.9 (112))]; PMID:29305966 [Fam.1:III.7(III.3)]; PMID:34111452 [AU.III.9 (112)]; PMID:39218359 [35] |
| 106259 | F | 215977 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.1:III.12(III.4)]; PMID:34111452 [AU.III.2 (107)] |
| 106268 | M | 215977 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.10(UU.IV.9 (118))]; PMID:29305966 [Fam.1:IV.6(IV.10)]; PMID:34111452 [AU.IV.9 (118)] |
| 106279 | M | 215977 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.1:V.1(V.1)]; PMID:34111452 [AU.V.2 (122)] |
| 106281 | M | 215977 |
-,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.1(UU.V.1 (121))]; PMID:29305966 [Fam.1:V.3(V.3)]; PMID:34111452 [AU.V.1 (121)] |
| 106304 | M | 215981 |
54,50 | Chinese (China) | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])] |
| 106313 | F | 215982 | -,25 | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | 2q33.1-33.3 deletion syndrome | PMID:29729943 [Chr2_1P1]; PMID:30326257 [previous1] |
| 106314 | M | 215983 | - | Caucasian | Decreased IgG levels | 2q33.1-33.3 deletion syndrome | PMID:29729943 [Chr2_2P2]; PMID:30326257 [previous2] |
| 106320 | M | 215984 | -,- | Hypogammaglobulinemia,Reduced IgG1 levels | NFKB1 insufficiency | PMID:150198 [Fam.EX:608]; PMID:36105815 [L196V] | |
| 106323 | M | 215985 |
- | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.EZ:II.1(612)]; PMID:36105815 [Fam.R284P:II.1(R284P/1)] | |
| 106327 | M | 215987 |
6 | Italian | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.FR:III.1(734)]; PMID:37600787 [Fam.1:III.1(index)] |
| 106330 | F | 215987 |
30 | Italian | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.FR:II.2(733)]; PMID:37600787 [Fam.1:II.2(mother)] |
| 106342 | F | 215992 | - | Russian | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.EV:606]; PMID:36105815 [G92V] |
| 106343 | M | 215993 |
- | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.EU:I.1(603)]; PMID:36105815 [Fam.H67R-2:I.1(H67R/10)] | |
| 106346 | F | 215993 |
14,- | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.EU:II.1(605)]; PMID:36105815 [Fam.H67R-2:II.1(H67R/11)] | |
| 106347 | M | 215994 | -,- | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.EY:609]; PMID:36105815 [R198C] | |
| 106349 | F | 215996 |
13 | South Korean | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [CM.II.2]; PMID:32009323 [2]; PMID:34111452 [Fam.CM:II.2(CM.II.2 (171))] |
| 106350 | M | 215996 |
- | South Korean | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [CM.I.2]; PMID:34111452 [Fam.CM:I.1(CM.I.2)] |
| 106351 | F | 215997 | 23 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [CZ.II.2] | |
| 106355 | F | 215999 |
- | British | Decreased IgG levels | Activated p110-delta syndrome 1 | PMID:34922003 [Fam.C:II.1(C1)] |
| 106358 | M | 216000 |
20,25 | Japanese | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31993940 [Patient(II.1)] |
| 106371 | M | 216004 |
22,- | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)] | |
| 106390 | M | 216005 |
- | Iranian | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:32996901 [Patient(II.1)] |
| 106393 | F | 216006 |
18,20,- | German | Decreased IgG levels,Hypogammaglobulinemia,Reduced IgG2 levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
| 106399 | M | 216006 |
51 | German | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [Fam.III.3:II.4] |
| 106402 | F | 216006 |
22 | German | Reduced IgG4 levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [Fam.III.3:III.2] |
| 106403 | M | 210197 |
- | Italian | Reduced IgG2 levels | NFKB1 insufficiency | PMID:150198 [Fam.DZ:I.1(545)] |
| 106405 | F | 210197 |
-,18 | Italian | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.DZ:II.3(549)] |
| 106409 | M | 216010 |
-,- | Chinese (China) | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
| 106419 | F | 216013 |
1 | Hypogammaglobulinemia | T-negative/B-positive SCID type 1 | PMID:7481768 [AP(II.1)] | |
| 106445 | M | 216015 |
- | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)] | |
| 106456 | F | 216020 |
- | Chinese (China) | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FS:II.1(737)]; PMID:37705523 [Fam.1:II.1(index)] |
| 106463 | F | 216023 |
- | Japanese | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)] |
| 106466 | F | 216023 |
- | Japanese | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FX:I.2(776)]; PMID:38514645 [Fam.1:I.2(I:2)] |
| 106470 | F | 216023 |
3,- | Japanese | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FX:III.1(781)]; PMID:38514645 [Fam.1:III.1(III:1)] |
| 106496 | F | 216046 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31156616 [Fam.A:II.3(A.II.2)] |
| 106497 | F | 216046 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31156616 [Fam.A:I.1(A.I.1)] |
| 106499 | F | 216046 |
- | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31156616 [Fam.A:II.2(A.II.1)] |
| 106536 | F | 216068 |
26 | Turkish | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [CE.II.1 (164)]; PMID:37595759 [Fam.F2:II.1(CM3)]; PMID:35491430 [Fam.F2:II.1(CM3)]; PMID:28601686 [P7(II.1)] |
| 106537 | F | 216068 |
64 | Turkish | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [CE.I.1 (163)]; PMID:37595759 [Fam.F2:I.1(CM4)]; PMID:35491430 [Fam.F2:I.1(CM4)]; PMID:28601686 [Fam.P7:I.2(P8)] |
| 106540 | F | 216071 |
- | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [Fam.CK:I.1(CK.I.1 (167))]; PMID:39218359 [24] | |
| 106555 | M | 216078 |
6 | Caucasian | Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
| 106581 | F | 216082 |
8 | Caucasian | Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.E:II.1(P7)] |
| 106592 | M | 216085 |
16 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
| 106610 | F | 216089 |
-,- | Australian | Decreased IgG levels,Hypogammaglobulinemia | Agammaglobulinemia 8A | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:II.2(II.2)]; PMID:30323807 [Fam.1:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)] |
| 106646 | M | 216099 |
- | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34628649 [Patient(III.1)] | |
| 106675 | M | 216105 | 18 | Egyptian | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158] |
| 106676 | F | 216106 |
68 | Dutch | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.ET:I.2(598)]; PMID:36105815 [Fam.G64V:I.2(G64V/1)] |
| 106679 | F | 216106 |
34 | Dutch | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.ET:II.2(600)]; PMID:36105815 [Fam.G64V:II.2(G64V/2)] |
| 106683 | M | 216107 | -,25 | German | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.EW:607]; PMID:36105815 [N103D] |
| 106684 | F | 216108 | -,- | Asian | Hypogammaglobulinemia,Reduced IgG3 levels | NFKB1 insufficiency | PMID:150198 [Fam.GF:801]; PMID:36105815 [G136S] |
| 106697 | F | 216110 | - | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30048690 [Fam.7:7.1]; PMID:35087518 [20.1] |
| 106700 | F | 216113 |
28 | Japanese | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [22.1]; PMID:34707038 [Patient(II.1)] |
| 106703 | F | 216114 |
- | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.21:II.1(21.2)] |
| 106707 | M | 216114 |
- | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.21:II.2(21.3)] |
| 106708 | F | 216115 | - | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [23.1] |
| 106709 | F | 216116 | - | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [24.1] |
| 106711 | F | 216118 | - | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [26.1] |
| 106714 | M | 215871 |
- | Spanish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.DM:II.2(473)]; PMID:36105815 [Fam.G386R:II.2(G386R/4)] |
| 106750 | F | 216121 |
0 | Palestinian | Decreased IgG levels | T-negative/B-positive SCID type 1 | PMID:32921793 [Fam.B:II.1(P1-B)] |
| 106753 | F | 216122 |
1 | Chinese (China) | Decreased IgG levels | T-negative/B-positive SCID type 1 | PMID:31309596 [Pt(II.2)] |
| 106792 | F | 216141 |
- | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.227] | |
| 106797 | F | 216148 | 52,52 | German | Decreased IgG levels,Reduced IgG4 levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37740092 [P06] |
| 106801 | M | 216152 | - | Caucasian | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37740092 [P16]; PMID:39218359 [11] |
| 106816 | F | 216162 | - | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
| 106819 | M | 216163 |
54 | Chinese (China) | Decreased IgG levels | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
| 106839 | M | 216166 | 6 | Iraqi | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:34795304 [Fam.1:II.1(Case 1)] |
| 106847 | M | 216169 |
40 | Caucasian | Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:29963054 [P1(II.1)] |
| 106862 | M | 216176 | 9 | Japanese | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.1:II.3(P1)] |
| 106867 | M | 216177 | 13 | Japanese | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.2:II.1(P2)] |
| 106868 | M | 216177 | 18 | Japanese | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.2:II.2(P3)] |
| 106892 | M | 216183 | - | Caucasian | Hypogammaglobulinemia | Immunodeficiency, common variable, 17 | PMID:27231034 [Fam.F1:III.3(P1.1)] |
| 106895 | M | 216183 | - | Caucasian | Hypogammaglobulinemia | Immunodeficiency, common variable, 17 | PMID:27231034 [Fam.F1:III.6(P1.2)] |
| 106912 | F | 216186 | 49,49,49 | Decreased circulating IgG subclass level,Decreased IgG levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
| 106939 | M | 216189 |
- | Caucasian | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
| 106953 | M | 216195 | 7,7 | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.GA:793]; PMID:38901617 [Fam.1:I.1(P1)] | |
| 106954 | M | 216196 |
- | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.GB:II.2(797)]; PMID:38901617 [Fam.2:II.2(P2)] | |
| 107093 | M | 216330 |
44 | Japanese | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.1:I.1(P1.1)] |
| 107097 | F | 216333 |
9 | Japanese | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.4:P4.1] |
| 107118 | F | 216340 |
1 | Iranian | Decreased IgG levels | Autoinflammation with episodic fever and immune dysregulation | PMID:38609546 [P2(II.2)] |
| 107149 | M | 216363 |
1,1 | Iranian | Decreased IgG levels,Hypogammaglobulinemia | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:II.3(Patient 1)] |
| 107161 | F | 216366 |
- | Sri Lankan Tamil | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:26607704 [P1(II.1)] |
| 107164 | F | 216366 |
18 | Sri Lankan Tamil | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:26607704 [Fam.P1:II.2(P2)] |
| 107181 | M | 216372 |
- | Iraqi | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.A:V.3(A5)] |
| 107217 | M | 216376 | - | Caucasian | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:27059682 [D] |
| 107218 | F | 216377 | - | Caucasian | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:27059682 [E] |
| 107226 | M | 216382 | 13 | North American | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt6]; PMID:33651637 [Patient 2]; PMID:28349047 [Case] |
| 107245 | M | 216394 |
2 | Caucasian | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Fam.2:II.1(Pt#2)] |
| 107246 | M | 216395 | 2 | Caucasian | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Pt#1] |
| 107249 | F | 216398 |
2 | Argentinian | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt7]; PMID:29378236 [Fam.1:Patient 1] |
| 107256 | F | 216400 | - | North American | Decreased IgG levels | Immunodeficiency, common variable, 13 | PMID:27379089 [P12] |
| 107259 | M | 216403 | - | North American | Decreased IgG levels | Hemophagocytic lymphohistiocytosis, familial 5 | PMID:27379089 [P15] |
| 107302 | M | 216427 | 21 | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30087679 [S4] | |
| 107304 | F | 216429 |
8 | Italian | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30326257 [Patient]; PMID:32927079 [Patient]; PMID:39218359 [18] |
| 107322 | M | 216439 | - | Chinese (China) | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:34291137 [Fam.B:II.1(P2)] |
| 107357 | F | 216443 | - | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:33864888 [S129] | |
| 107358 | M | 216444 | - | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:33864888 [S088] | |
| 107390 | M | 216464 |
24,23 | Chinese (China) | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.GT:II.1(817)]; PMID:39823049 [Fam.1:II.2(II-2)] |
| 107394 | M | 216465 |
- | German | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.GU:II.1(821)] |
| 107396 | M | 216467 |
- | German | Reduced IgG2 levels | NFKB1 insufficiency | PMID:150198 [Fam.GW:II.2(834)] |
| 107397 | M | 216468 |
-,- | Italian | Decreased IgG levels,Reduced IgG2 levels | NFKB1 insufficiency | PMID:150198 [Fam.GX:I.1(835)] |
| 107405 | F | 216476 | - | Turkish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.GY:839] |
| 107429 | M | 216166 | - | Iraqi | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:34795304 [Fam.1:II.2(Case 2)] |
| 107432 | F | 216482 | - | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:31857100 [P1] | |
| 107439 | M | 216485 |
29 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:38351878 [Fam.A:II.2(father)] | |
| 107442 | M | 216486 |
13,14 | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:38351878 [Fam.B:II.1(P2)] | |
| 107447 | F | 216487 |
14,- | Asian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34824019 [Patient(II.1)] |
| 107469 | F | 216502 | 2 | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:35748740 [Patient] | |
| 107477 | F | 216509 | - | Decreased IgG levels | 2q33.1-33.3 deletion syndrome | PMID:33864888 [S018] | |
| 107488 | M | 216512 |
- | Turkish | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F1:II.1(CM2)]; PMID:35491430 [Fam.F1:II.1(CM2)] |
| 107489 | M | 216513 | 9 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F3:CM5]; PMID:35491430 [Fam.F3:CM5] | |
| 107490 | M | 216514 | 8 | Hypogammaglobulinemia | 2q33.1-33.3 deletion syndrome | PMID:37595759 [Fam.F4:CM6]; PMID:35491430 [Fam.F4:CM6] | |
| 107492 | F | 216515 |
42 | Turkish | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F5:I.1(CM8)]; PMID:35491430 [Fam.F5:I.1(CM8)] |
| 107494 | M | 216517 |
15,14 | Turkish | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F7:II.2(CM10)]; PMID:35491430 [Fam.F7:II.2(CM10)] |
| 107496 | M | 216517 |
8 | Turkish | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F7:II.1(CM11)]; PMID:35491430 [Fam.F7:II.1(CM11)] |
| 107553 | M | 216563 |
1 | Turkish | Decreased IgG levels | Severe congenital neutropenia 6 | PMID:37120535 [4]; PMID:37528877 [17]; PMID:25851723 [Fam.1:III.4(Patient-I)]; PMID:32419428 [Patient 15] |
| 107562 | M | 216567 | 14 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:39155467 [UPN2] | |
| 107563 | M | 216568 | 8 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:39155467 [UPN3] | |
| 107582 | F | 216582 | - | Indian | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:35413226 [Patient(II.5)] |
| 107629 | M | 216591 | - | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:35490276 [Patient(II.3)] | |
| 107637 | F | 216563 |
0 | Turkish | Decreased IgG levels | Severe congenital neutropenia 6 | PMID:37120535 [5]; PMID:37528877 [18]; PMID:25851723 [Fam.1:III.6(Patient-II)]; PMID:32419428 [Patient 16] |
| 107701 | M | 216604 | - | Georgian Jewish | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:36063261 [Patient 2] |
| 107702 | M | 216605 | - | Georgian Jewish | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:36063261 [Patient 3] |
| 107711 | M | 216607 | - | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:36074705 [P1] | |
| 107712 | M | 216608 | - | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:36074705 [P2] | |
| 107714 | F | 216610 | - | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:36074705 [P4] | |
| 107715 | M | 216611 | - | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:36074705 [P5] | |
| 107723 | M | 216619 | 0 | Hypogammaglobulinemia | Severe congenital neutropenia 6 | PMID:37528877 [Patient] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).