Decreased IgA levels
Basic details
Preferred term: Decreased IgA levels
Alt. terms: IgA deficiency | Decreased immunoglobulin A | Gamma-A globulin deficiency | Low levels of immunoglobulin A
HPO term: Decreased circulating IgA level
HPO code: HP:0002720
GenIA ID: 11
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
Decreased levels of immunoglobulin IgA.
Hierarchical classification
PARENT terms
TERM
Decreased IgA levels
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | -,- | German | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3] |
101017 | F | 210232 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F003:P003] | |
101019 | F | 210316 | -,- | German | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F004:P004] | |
101020 | F | 210008![]() |
22 | German | Decreased IgA 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 IgA 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 IgA levels | PMID:34975878 [Fam.F009:P009] | ||
101025 | M | 210937 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F010:P010] | ||
101026 | M | 210215 | -,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F011:P011] | ||
101027 | M | 211035 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F012:P012] | ||
101028 | F | 210750 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F013:P013] | |
101037 | M | 210182![]() |
-,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.4(B.II.3)]; PMID:30250467 [B.II.3]; PMID:29729943 [Fam.B:II.4(B.II.3 (15))]; PMID:27418640 [P13(5)] |
101038 | F | 210182![]() |
-,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | 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)] |
101039 | F | 210182![]() |
-,- | Caucasian | Decreased IgA levels,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))] |
101043 | M | 210725![]() |
-,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101045 | M | 210205![]() |
-,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.13(A.III.3)]; PMID:29729943 [Fam.A:III.3(9)]; PMID:34975878 [Fam.F018:III.2(P018)]; PMID:27418640 [P11(5)] |
101046 | F | 210205![]() |
-,- | Caucasian | Decreased IgA 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))] |
101049 | F | 210205![]() |
-,- | Caucasian | Decreased IgA levels,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))] |
101050 | F | 210205![]() |
-,18 | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.16(A.III.6)]; PMID:29729943 [Fam.A:III.6(A.III.6 (11))]; PMID:34975878 [Fam.F018:III.5(P020)] |
101051 | F | 210205![]() |
-,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.5(A.III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)] |
101053 | F | 211287 | -,0 | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F022:P022] | ||
101055 | M | 212088 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F408:P408] | ||
101058 | M | 210120 | 20 | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F031:P031] | ||
101063 | M | 210118 | 3,- | German | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F411:P411]; PMID:34390440 [CMC01] | |
101065 | F | 211364 | 9 | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F033:P033] | |
101067 | M | 211264 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F036:P036] | ||
101068 | M | 210742 | -,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F037:P037] | ||
101069 | F | 211370![]() |
- | Turkish | Decreased IgA 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 | -,9 | German | Decreased IgA levels,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] | ||
101082 | F | 211226 | 48 | Decreased IgA levels | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
101083 | M | 210479 | 38,- | German | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F049:P049] | |
101084 | F | 211225 | 13,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F050:P050] | ||
101085 | F | 210196 | 40,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F051:P051] | ||
101086 | M | 210934 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F052:P052] | |
101087 | M | 211335 | 10,30 | German | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F053:P053] |
101088 | M | 211560 | -,41 | German | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F054:P054] | |
101089 | M | 211033 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F055:P055] | ||
101090 | M | 211257 | - | Decreased IgA levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13] | |
101091 | M | 210911 | - | Hypogammaglobulinemia | DiGeorge syndrome | PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180] | |
101092 | M | 210772 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F058:P058] | ||
101093 | M | 211289 | 33 | German | Decreased IgA levels | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
101095 | M | 210286 | 0,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F060:P060] | ||
101097 | F | 211399 | -,46 | Decreased IgA 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 IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F064:P064] | |
101103 | F | 211424 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F065:P065] | ||
101104 | F | 211429 | 5 | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:34975878 [Fam.F397:P397] | |
101115 | F | 210778 | 29 | Caucasian | Decreased IgA 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 IgA 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 IgA 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 IgA levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
101123 | M | 210255 | -,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F074:P074] | ||
101124 | F | 210216 | -,53 | German | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F077:P077] | |
101128 | M | 210897 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07] |
101129 | F | 210906 | 42,- | German | Decreased IgA 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 | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F081:P081] | |
101133 | M | 210896 | -,38 | Decreased IgA 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 IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F398:P398] | |
101138 | F | 211092 | -,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F086:P086] | ||
101139 | F | 212090 | -,21 | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F399:P399] | ||
101143 | F | 211219 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F088:P088] | ||
101145 | M | 211221![]() |
-,20 | German | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F093:P093] | |
101151 | M | 210938 | -,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F094:P094] | ||
101152 | M | 211186 | - | Austrian | Hypogammaglobulinemia | PMID:34975878 [Fam.F095:P095] | |
101154 | F | 210005 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F097:P097] | ||
101155 | M | 210235 | -,- | German | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098] |
101157 | F | 211016 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F099:P099] | ||
101159 | M | 211131 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F100:P100] | ||
101160 | F | 211433 | 63 | Decreased IgA levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F101:P101] | |
101161 | M | 211455 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F102:P102] | ||
101162 | F | 211457 | 17,- | Decreased IgA levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F103:P103] | |
101163 | F | 211458 | -,- | Decreased IgA levels,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 IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F107:P107] | ||
101167 | M | 211470![]() |
42 | Decreased IgA 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 IgA levels | Immunodeficiency, common variable, 20 | PMID:25926555 [Patient(II.1)] |
101177 | F | 212111 | -,12 | Decreased IgA 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 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F118:P118] | ||
101187 | F | 211475![]() |
- | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F121:P121] | ||
101199 | F | 211483 | 23,- | German | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101201 | F | 211487 | 19 | Decreased IgA levels | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:II.3(P123)]; PMID:30941118 [Fam.1404:II.3(Pt#22)] | |
101202 | F | 211487 | 22 | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F125:P125] | |
101204 | M | 211492 | 46,- | German | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F126:P126] | |
101205 | F | 211471 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F127:P127] | ||
101206 | F | 211500 | -,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F129:P129] | ||
101207 | F | 211502 | 43,- | Decreased IgA 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 IgA 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 IgA 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 IgA levels,Hypogammaglobulinemia | 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 IgA 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 IgA 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 IgA 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 | 16,16 | Italian | Decreased IgA levels,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 IgA levels | Immunodeficiency, common variable, 8 | PMID:27379089 [P13] |
101365 | M | 212160 | - | North American | Decreased IgA 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 | 3 | Iranian | Decreased IgA 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 | 44,39 | German | Decreased IgA 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 | German | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F135:P135]; PMID:31857261 [Patient 9] |
101387 | M | 211537 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F136:P136] | |
101391 | F | 211018 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F137:P137] | ||
101399 | F | 210189![]() |
14,16 | German | Decreased IgA levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
101401 | F | 210205![]() |
-,- | Caucasian | Decreased IgA 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)] |
101402 | M | 210690 | 38 | German | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F138:P138] |
101403 | M | 210189![]() |
- | German | Decreased IgA 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 | 37 | German | Decreased IgA 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![]() |
-,- | Caucasian | Decreased IgA 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)] |
101433 | M | 210233 | 3 | German | Decreased IgA 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 | -,3 | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F145:P145] | ||
101445 | F | 210296 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F146:P146] | |
101446 | M | 212176 | - | North American | Decreased IgA levels | Immunodeficiency, common variable, 8 | PMID:26206937 [P9] |
101447 | F | 210943 | -,- | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 13 | PMID:34975878 [Fam.F150:P150]; PMID:31057532 [Fam.A:I.2] |
101454 | M | 210192 | 19 | Decreased IgA levels | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.A:II.1] | |
101457 | F | 211027 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F152:P152] | ||
101458 | F | 210656![]() |
-,- | Georgian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [Fam.E:II.3(E.II.3 (23))]; PMID:27418640 [P19(5)] |
101461 | M | 210929 | 47 | German | Decreased IgA 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 IgA 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 IgA 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 | 47,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F157:P157] | ||
101476 | F | 210512 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F158:P158] | ||
101478 | F | 210353 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F159:P159] | ||
101479 | F | 210314![]() |
47,- | German | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F161:P161] | |
101485 | F | 210498 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F162:P162] | |
101488 | M | 210401![]() |
43 | German | Decreased IgA 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] |
101495 | M | 212458 | 1 | Taiwanese | Hypogammaglobulinemia | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
101497 | F | 210631 | -,23 | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F166:P166] | ||
101498 | F | 210486 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F167:P167] | |
101503 | M | 210237 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F168:P168] | ||
101504 | F | 211125 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F169:P169] | ||
101507 | M | 210508 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F171:P171] | |
101514 | M | 210220![]() |
-,- | German | Decreased IgA 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![]() |
7 | German | Decreased IgA levels | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.105:II.1(P1)]; PMID:34975878 [Fam.F173:P173] |
101525 | F | 211543 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F174:P174] | ||
101527 | M | 210728 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F175:P175] | ||
101529 | M | 211278 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F176:P176] | ||
101535 | M | 210775 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F177:P177] | ||
101537 | M | 210949 | -,42 | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F178:P178] | ||
101543 | F | 210011 | 21,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F179:P179] | ||
101544 | F | 211170 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F180:P180] | ||
101553 | M | 210256 | 37 | German | Decreased IgA levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
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 IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F186:P186] | ||
101564 | M | 210361 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F187:P187] | |
101565 | M | 211008![]() |
-,1 | Caucasian | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F190:P190] | ||
101569 | F | 210220![]() |
39 | German | Decreased IgA 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] | |
101572 | M | 212598 | 25 | Turkish | Decreased IgA levels | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES46] |
101574 | F | 210776 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F197:P197] | ||
101575 | M | 210900 | - | German | Decreased IgA levels | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2] |
101576 | M | 212599 | 46 | Decreased IgA levels | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES47] | |
101578 | M | 210205![]() |
-,- | German | Decreased IgA 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)] |
101579 | F | 210773 | -,- | Turkish | Decreased IgA 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 IgA 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 IgA 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 IgA 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(128)]; PMID:34975878 [Fam.F217:P217] |
101629 | F | 210990 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F218:P218] | ||
101630 | M | 211089![]() |
22 | German | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F220:P220]; PMID:30941118 [Fam.846:II.1(Pt#49)] | |
101635 | F | 211154 | - | German | Decreased IgA 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 IgA 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 IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F234:P234] | ||
101672 | M | 211159 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F235:P235] | ||
101673 | M | 211156 | - | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
101675 | M | 211167 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F237:P237] | ||
101678 | F | 211171 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F238:P238] | ||
101679 | M | 211173 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F240:P240] | ||
101695 | M | 211280 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F241:P241] | ||
101697 | F | 211447 | - | 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 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F247:P247] | ||
101711 | M | 210925![]() |
- | Turkish | 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 IgA 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)] |
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 IgA 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)] |
101727 | M | 210300![]() |
41 | North American | Decreased IgA levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:II.1(P1)] |
101731 | M | 210300![]() |
- | North American | Decreased IgA levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.3(P2)] |
101732 | M | 210300![]() |
14 | North American | Decreased IgA levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.4(P3)] |
101733 | M | 210300![]() |
16 | North American | Decreased IgA levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.6(P4)] |
101735 | F | 210300![]() |
13 | North American | Decreased IgA levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.8(P5)] |
101736 | M | 210300![]() |
11 | North American | Decreased IgA levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.9(P6)] |
101737 | M | 210300![]() |
16 | North American | Decreased IgA levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.10(P7)] |
101738 | M | 210300![]() |
13 | North American | Decreased IgA levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.11(P8)] |
101740 | M | 210300![]() |
2 | North American | Decreased IgA levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.13(P9)] |
101741 | F | 210300![]() |
1 | North American | Decreased IgA levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.14(P10)] |
101744 | F | 210182![]() |
-,- | Caucasian | Decreased IgA 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)] |
101748 | F | 210573 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F248:P248] | ||
101755 | M | 210025 | 7,7 | North American | Decreased IgA levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
101756 | F | 210025 | 2 | North American | Decreased IgA levels | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)] |
101757 | M | 210026 | 11,11 | North American | Decreased IgA levels,Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.605:P14]; PMID:26206937 [P3] |
101759 | F | 210028 | 12 | North American | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.607:P16]; PMID:26206937 [P4] |
101764 | F | 210031 | - | Dutch | Decreased IgA levels | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
101767 | F | 210788 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F249:P249] | ||
101768 | M | 210789 | 24 | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
101773 | M | 210876![]() |
- | German | 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 IgA levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
101775 | M | 210908![]() |
-,- | Argentinian | Decreased IgA levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101776 | M | 210912 | - | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F251:P251] | |
101788 | M | 210950![]() |
-,- | Swiss | Decreased IgA levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [P7(II.1)] |
101789 | M | 210950![]() |
-,- | Swiss | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
101796 | F | 211107 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F257:P257] | ||
101797 | M | 211108 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
101798 | M | 211117 | -,- | Decreased IgA levels,Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:28493328 [P11] | |
101799 | M | 211120 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)] |
101800 | M | 215769![]() |
- | Caucasian | Decreased IgA 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)] |
101801 | M | 211151 | - | Decreased IgA levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
101802 | F | 211221![]() |
38 | German | Decreased IgA 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 IgA 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 IgA 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 | 21 | Decreased IgA levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F264:P264] | |
101808 | F | 211441 | 36 | Decreased IgA 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 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F403:P403] | ||
101812 | F | 211521 | 18 | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F271:P271] | |
101813 | F | 211525 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F273:P273] | ||
101814 | F | 211527 | -,- | German | Decreased IgA levels,Hypogammaglobulinemia | 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 | - | 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 | 9,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F291:P291] | ||
101828 | F | 211576 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F292:P292] | ||
101829 | M | 211577 | -,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F293:P293] | ||
101833 | M | 210887 | - | Decreased IgA 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 IgA 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 IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F404:P404] |
101846 | F | 211604 | - | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F306:P306] | |
101847 | T | 211632 | -,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F308:P308] | ||
101848 | F | 211633 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F309:P309] | ||
101849 | F | 211636 | - | Decreased IgA 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 | 20 | Decreased IgA 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 IgA 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 IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F325:P325] | ||
101883 | M | 211765 | 28 | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F405:P405] | |
101893 | F | 211767 | -,40 | Decreased IgA levels,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 IgA 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 | PMID:34975878 [Fam.F337:P337] | ||
101912 | F | 211848 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F338:P338] | ||
101913 | M | 211925 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F340:P340] | ||
101915 | F | 211935 | - | Decreased IgA levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] | |
101922 | F | 211937 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F342:P342] | ||
101924 | M | 210094 | - | German | Hypogammaglobulinemia | Immunodeficiency 31C | PMID:34390440 [CMC05] |
101927 | M | 210097 | - | Decreased IgA levels | Immunodeficiency 31C | PMID:34390440 [CMC10] | |
101946 | F | 211943 | 46 | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F406:P406] | |
101947 | M | 211945 | -,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F348:P348] | ||
101948 | F | 211950 | -,25 | Decreased IgA levels,Hypogammaglobulinemia | 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 | - | 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 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F391:P391] | ||
101959 | M | 210641 | 42 | German | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F393:P393] | ||
101987 | F | 214115 | - | Hypogammaglobulinemia | PMID:34390440 [NEG094] | ||
102138 | M | 214393![]() |
46 | North American | Decreased IgA levels | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:II.2(F)]; PMID:37876937 [Fam.A:II.1(A.3)] |
102141 | F | 214393![]() |
17 | North American | Decreased IgA levels | Immunodeficiency, common variable, 14 | PMID:27016798 [Patient(III.1)]; PMID:37876937 [Fam.A:III.1(A.1)] |
102142 | M | 214393![]() |
15 | North American | Decreased IgA levels | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:III.2(B)]; PMID:37876937 [Fam.A:III.2(A.2)] |
102157 | F | 214681 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
102167 | M | 214764 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F395:P395] | ||
102168 | M | 214767![]() |
- | Georgian | Decreased IgA levels | Agammaglobulinemia 14 | PMID:33571536 [P-FR1(II.3)] |
102171 | F | 214852![]() |
0 | Japanese | Decreased IgA levels | OAS1 immunodeficiency | PMID:29455859 [Fam.B:II.1]; PMID:29185156 [P1] |
102175 | M | 210725![]() |
-,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102182 | F | 214681 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:III.1(46)] |
102222 | M | 214917 | 34 | German | Decreased IgA 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 IgA 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] |
102281 | M | 214931![]() |
0 | North American | Decreased IgA levels | OAS1 immunodeficiency | PMID:34145065 [P3(II.2)] |
102285 | F | 214932![]() |
0 | North American | Decreased IgA levels | OAS1 immunodeficiency | PMID:34145065 [P4(II.2)] |
102288 | M | 214933![]() |
1 | Italian | Decreased IgA levels | OAS1 immunodeficiency | PMID:34145065 [P6(II.1)] |
102289 | M | 214934![]() |
0 | Moroccan | Decreased IgA levels | Otofaciocervical syndrome 2 | PMID:28657137 [V:1(V.1)]; PMID:32111619 [Fam.B:V.4(P2)] |
102294 | F | 214934![]() |
0 | Moroccan | Decreased IgA levels | Otofaciocervical syndrome 2 | PMID:28657137 [Fam.V:1:V.18(V:18)]; PMID:32111619 [Fam.B:V.2(P3)] |
102410 | F | 214947![]() |
6 | South Asian | Decreased IgA levels | Hyper-IgE recurrent infection syndrome 4B | PMID:28747427 [Fam.A:II.3(P1)] |
102421 | M | 214949![]() |
15 | French | Decreased IgA levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.1(P3)] |
102426 | F | 214949![]() |
10 | French | Decreased IgA levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.2(P4)] |
102444 | M | 214957![]() |
25 | Slovak | Decreased IgA levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
102466 | M | 214962![]() |
2,5 | Polish | Decreased IgA levels,Hypogammaglobulinemia | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
102530 | M | 214966![]() |
34 | Japanese | Decreased IgA levels | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
102630 | M | 214970![]() |
3 | European | Decreased IgA levels | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
102637 | M | 214972![]() |
17 | Decreased IgA levels | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
102731 | F | 214982![]() |
8 | Colombian | Decreased IgA 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 IgA levels | SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation | PMID:16439205 [Patient]; PMID:12604777 [2BN(II.1)] |
102818 | M | 214993![]() |
4 | Caucasian | Decreased IgA levels | SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation | PMID:12604777 [Fam.2BN:II.2(3BN)] |
102897 | M | 215007![]() |
0 | Turkish | Decreased IgA levels | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)] |
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 IgA levels,Hypogammaglobulinemia | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
103072 | F | 215098![]() |
25 | Finnish | Decreased IgA levels | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F4:II.1(P5)] |
103113 | M | 215100![]() |
2 | Iranian | Decreased IgA levels | Seizures, cortical blindness, microcephaly syndrome | PMID:36212620 [Patient(II.1)] |
103288 | F | 215113![]() |
21 | Hungarian | Decreased IgA levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.3:II.1(P4)] |
103292 | F | 215114 | 35 | German | Decreased IgA levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
103293 | M | 215115 | 44 | Decreased IgA levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P6] | |
103448 | F | 215129![]() |
-,16 | Saudi | Decreased IgA levels,Hypogammaglobulinemia | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.1:II.2(P1)] |
103485 | F | 215137![]() |
7 | French | Hypogammaglobulinemia | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103820 | M | 215254![]() |
11 | French | Decreased IgA levels | Adenosine deaminase 2 deficiency | PMID:25278816 [Fam.F785:II.5(P1)] |
103834 | F | 215257![]() |
- | European | Decreased IgA levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.2:II.3(P2)] |
103877 | F | 215266![]() |
12,12 | Finnish | Decreased IgA 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 | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
103997 | M | 215318![]() |
- | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
103998 | M | 215319![]() |
- | Decreased IgA levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P2] | |
103999 | M | 215320![]() |
-,- | Decreased IgA levels,Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P3] | |
104000 | M | 215321 | -,- | Decreased IgA levels,Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P4] | |
104001 | F | 215322![]() |
-,- | North American | Decreased IgA 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![]() |
- | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
104003 | F | 215324 | - | Decreased IgA levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P7] | |
104004 | F | 215325 | - | Decreased IgA levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P8] | |
104007 | M | 215326![]() |
- | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:I.2(P10)]; PMID:35677041 [Pt5] | |
104398 | M | 215522![]() |
- | Czech | Decreased IgA levels | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36932076 [P3(II.1)] |
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 IgA levels | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.C:II.1(Patient C)] |
104541 | M | 215550![]() |
- | North African | Decreased IgA levels | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.G:II.1(Patient G)] |
104630 | M | 215560![]() |
- | Decreased IgA levels | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.C:II.2(P3)] | |
104685 | F | 215571![]() |
- | Iranian | Decreased IgA levels | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.6(VI.5)] |
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 IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56] |
104842 | M | 215579![]() |
-,- | European | Decreased IgA 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)] |
104844 | F | 215579![]() |
73 | European | Decreased IgA levels | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:I.2(I.2)]; PMID:26279205 [Fam.NZ:I.2(I2)]; PMID:29403474 [Fam.NZ (5):I.2(I2)]; PMID:29806948 [Fam.NZ:I.2(I.2)]; PMID:30323807 [Fam.2:I.2(I.2)]; PMID:150198 [Fam.AC:I.2(107)] |
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 IgA 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 | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104923 | M | 215620![]() |
- | Decreased IgA levels | Immunodeficiency, common variable, 14 | PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)] | |
104932 | F | 215622![]() |
65 | Dutch | Decreased IgA 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 IgA 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 IgA 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 IgA 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)] |
104970 | M | 215622![]() |
41 | Dutch | Decreased IgA 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 IgA 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 | 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 | Dutch | Decreased IgA levels,Hypogammaglobulinemia | 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![]() |
15,2 | Dutch | Decreased IgA 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 IgA 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 IgA 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)] | |
105007 | F | 215622![]() |
34 | Dutch | Decreased IgA 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)] |
105034 | F | 215628![]() |
19 | Finnish | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
105043 | F | 215630![]() |
-,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105045 | M | 215631![]() |
24 | Caucasian | Decreased IgA levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10] |
105051 | F | 215634![]() |
14 | Decreased IgA levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:29180260 [Patient(II.1)] | |
105057 | F | 215635![]() |
-,22 | German | Decreased IgA 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 | Hypogammaglobulinemia | Combined immunodeficiency 36 | PMID:35464398 [P5(II.1)] |
105088 | M | 215638 | -,- | Japanese | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1] |
105093 | F | 215639![]() |
19 | Israeli | Decreased IgA levels | NFKB1 insufficiency | PMID:32278790 [Fam.AA:II.2(II.2)]; PMID:29403474 [Patient 2 (8)]; PMID:27365489 [Fam.2:II.2(Pat.2)]; PMID:150198 [Fam.AF:II.2(127)] |
105102 | M | 215640![]() |
- | European | Decreased IgA 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 IgA levels,Hypogammaglobulinemia | 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 IgA 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)] |
105110 | M | 215644 | - | Decreased IgA levels | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
105111 | F | 215645 | - | Decreased IgA levels | NFKB1 insufficiency | PMID:27379089 [P4]; PMID:32278790 [AR.I.4]; PMID:29403474 [Patient 4 (10)]; PMID:150198 [Fam.AI:146] | |
105112 | F | 215646 | - | Decreased IgA levels | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
105129 | M | 215647![]() |
- | Decreased IgA levels | NFKB1 insufficiency | PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] | |
105130 | F | 215647![]() |
- | Decreased IgA levels | NFKB1 insufficiency | PMID:27379089 [Fam.1: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 IgA 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 IgA 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 IgA 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] |
105172 | M | 215659 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)] |
105176 | F | 215661 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)] |
105177 | M | 215661 | - | Caucasian | 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(4)] |
105179 | F | 215661 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)] |
105180 | M | 215662 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105190 | F | 215664 | 28 | Caucasian | Decreased IgA levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.F:II.1(7)] |
105191 | F | 215664 | 26 | Caucasian | Decreased IgA levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.F:II.2(8)] |
105197 | M | 215666![]() |
25 | Finnish | 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 IgA levels | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.1:II.1(G.M.)] | |
105212 | F | 215666![]() |
44 | Finnish | 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![]() |
- | Finnish | 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 | Finnish | 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 | Finnish | 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![]() |
- | Finnish | 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![]() |
- | Finnish | 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![]() |
35 | Finnish | Decreased IgA 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)] | |
105231 | M | 215671![]() |
18 | Finnish | Decreased IgA levels | NFKB1 insufficiency | PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)] |
105245 | M | 215674![]() |
- | Caucasian | Decreased IgA levels | NFKB1 insufficiency | PMID:32278790 [Fam.AN:II.2(II.1)]; PMID:29403474 [Fam.(12):I.1(P9.1)]; PMID:28983403 [Fam.1:I.1(P9.1)]; PMID:150198 [Fam.AT:II.1(223)] |
105246 | M | 215674![]() |
9 | Caucasian | Decreased IgA levels | NFKB1 insufficiency | PMID:32278790 [Fam.AN:III.2(III.1)]; PMID:29403474 [Fam.(12):II.1(P9.2)]; PMID:28983403 [Fam.1:II.1(P9.2)]; PMID:150198 [Fam.AT:III.2(226)] |
105256 | F | 210008![]() |
40 | German | Hypogammaglobulinemia | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105276 | F | 215684![]() |
1 | Saudi | Decreased IgA levels | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.O:II.1(113)]; PMID:38630025 [Fam.2:II.1(Patient 2)] |
105279 | F | 215685![]() |
- | European | Decreased IgA 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 IgA 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 IgA 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)] |
105287 | F | 215640![]() |
- | European | Decreased IgA levels | NFKB1 insufficiency | PMID:32278790 [Fam.A:II.4(II.4)]; PMID:29477724 [Fam.A:II.4(II:4)]; PMID:150198 [Fam.AU:II.5(233)] |
105290 | M | 215640![]() |
- | European | Decreased IgA levels | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.2(III.2)]; PMID:29477724 [Fam.A:III.2(III:2)]; PMID:150198 [Fam.AU:III.2(235)]; PMID:32918165 [Fam.A:III.2(brother)] |
105296 | F | 215686![]() |
- | European | Decreased IgA 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 IgA 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 IgA 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 | Decreased IgA 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)] |
105308 | F | 215687![]() |
-,- | European | Decreased IgA 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 IgA 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 IgA 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 IgA 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 IgA 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 IgA 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)] |
105328 | F | 215693![]() |
- | European | Decreased IgA levels | NFKB1 insufficiency | PMID:32278790 [Fam.L:II.1(II.1)]; PMID:29477724 [Fam.L:II.1(II:1)]; PMID:150198 [Fam.BF:II.1(283)] |
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 IgA 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 IgA 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 IgA 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 IgA levels | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
105336 | M | 215698 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AAA:II.1(AAA.II.1 (130))]; PMID:27908448 [Patient(I.1)] |
105337 | U | 215699 | - | European | Decreased IgA 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 IgA 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 IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)] |
105412 | F | 215762![]() |
11,11 | Caucasian | Decreased IgA 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)] |
105416 | F | 215764![]() |
- | Chinese (China) | Decreased IgA 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 IgA 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 IgA 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 IgA 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 IgA 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 IgA 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 IgA 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 IgA 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] |
105466 | M | 215772![]() |
18 | Russian | 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, recessive | 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 | Hypogammaglobulinemia | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.A:II.1(A.1)] |
105487 | F | 215780![]() |
- | Afro-American | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.G:II.1(G.1)] |
105509 | M | 215784![]() |
- | Caucasian | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:II.1(D.II.1)] |
105510 | F | 215784![]() |
- | Caucasian | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:II.2(D.II.2)] |
105513 | F | 215787![]() |
- | Caucasian | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.F:II.1(F.II.1)] |
105528 | F | 215788 | - | Decreased IgA levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P6] | |
105529 | M | 215789 | - | Decreased IgA levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P7] | |
105530 | F | 215790 | - | Decreased IgA levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P8] | |
105533 | M | 215791 | 44 | Portuguese | Decreased IgA levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105537 | M | 215793 | - | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:24698326 [P1] | |
105542 | M | 215796 | 49,- | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P6] | |
105543 | M | 215797 | - | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P7] | |
105546 | M | 215800![]() |
-,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29867916 [N211(II.1)]; PMID:29729943 [Fam.O:II.1(O.II.1 (42))] |
105549 | F | 215801 | 21,21 | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A: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 IgA levels,Hypogammaglobulinemia | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
105587 | F | 215820 | - | Caucasian | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:24610295 [Fam.1:II.1(F1P1)] |
105591 | F | 215821 | - | Caucasian | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:24610295 [Fam.2:II.1(F2P2)] |
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 IgA 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 | - | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:27379089 [11] | |
105658 | M | 215836 | 1 | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.1(Sibling 1)] | |
105679 | M | 215839![]() |
-,- | Caucasian | Decreased IgA 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 IgA 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)] |
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] |
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 | 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 | - | German | Decreased IgA 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 IgA 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![]() |
- | Caucasian | Decreased IgA levels | NFKB1 insufficiency | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
105791 | F | 215877![]() |
- | Spanish | Decreased IgA levels | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:II.1(1.1)] |
105793 | M | 215877![]() |
- | Spanish | Decreased IgA levels | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:I.2(1.2)] |
105794 | M | 215878![]() |
- | Spanish | Decreased IgA 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 IgA levels | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.3:II.1(3.1)] |
105844 | M | 215889![]() |
- | Spanish | Decreased IgA 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 IgA 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 IgA levels | Immunodeficiency, common variable, 2 | PMID:150198 [Fam.EA:III.1(556)]; PMID:34922003 [Fam.A:III.1(A4)] |
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 IgA 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 IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))] |
105926 | M | 215909 | -,- | Japanese | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)] |
105934 | M | 215910![]() |
0 | Decreased IgA levels | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.2:II.1(C.M.)]; PMID:8676091 [Fam.1:II.1(C.M.)] | |
105946 | M | 215913![]() |
- | Caucasian | Decreased IgA levels | NFKB1 insufficiency | PMID:150198 [Fam.EC:II.1(562)]; PMID:36105815 [Fam.R231C:II.1(R231C/2)]; PMID:35003082 [Fam.1:II.1(P2/S.2)]; PMID:34619682 [P.232] |
105947 | M | 215913![]() |
- | Caucasian | Decreased IgA 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 IgA 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 | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105968 | M | 215916 | -,- | Japanese | Decreased IgA 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:35087518 [Fam.13:II.1(13.2)] |
105974 | M | 215918 | -,- | Japanese | Decreased IgA 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: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:35087518 [Fam.15:II.1(15.2)] |
105977 | F | 215918 | -,- | Japanese | Decreased IgA 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:35087518 [Fam.15:II.2(15.3)] |
105978 | F | 215918 | -,- | Japanese | Decreased IgA levels,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:35087518 [Fam.15:II.3(15.4)] |
105981 | M | 215919 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))] |
105985 | F | 215920 | -,- | Japanese | Decreased IgA levels,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:35087518 [Fam.17:II.2(17.3)] |
105986 | F | 215921![]() |
-,- | Decreased IgA levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
105991 | M | 215922![]() |
55,- | Decreased IgA levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FH:II.1(634)]; PMID:36203612 [Fam.2:II.2(2.II.1)] | |
105995 | M | 215922![]() |
- | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FH:II.3(636)]; PMID:36203612 [Fam.2:II.3(2.II.2)] | |
105999 | F | 215922![]() |
-,- | Decreased IgA levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)] | |
106017 | M | 215725 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:II.3(Z.II.2 (64))] |
106023 | M | 215923 | -,- | Japanese | Decreased IgA 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:35087518 [Fam.16:IV.1(16.2)] |
106036 | F | 215924 | -,- | Japanese | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CC:II.1(CC.II.1 (73))]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:35087518 [18.1] |
106041 | M | 215926 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106042 | M | 215927 | -,- | North American | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [FF.II.1]; PMID:29729943 [Fam.FF:II.1(FF.II.1 (77))] |
106043 | F | 215928 | - | Afro-American | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.HH:II.1(HH.II.1 (82))] |
106044 | F | 215929 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))] |
106047 | F | 215930 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106048 | M | 210991 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:I.1(NN.I.1 (88))] |
106057 | F | 210991 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
106060 | F | 210991 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))] |
106068 | M | 215931 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
106069 | F | 215932 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))] |
106070 | F | 215933 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
106075 | M | 215934 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.2(TT.II.2 (101))] |
106077 | M | 215934 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))] |
106084 | F | 215940 | - | Hypogammaglobulinemia | 4q24 deletion syndrome | PMID:150198 [Fam.EN:591]; PMID:35784294 [303816] | |
106094 | M | 215947 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))] |
106099 | M | 210955 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))] |
106100 | F | 215949 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.DDD:II.1(DDD.II.1 (133))]; PMID:30048690 [Fam.3:II.1(P3.2)] |
106105 | M | 215950 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
106106 | F | 215951![]() |
- | Iranian | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FF:II.1(626)]; PMID:36113674 [P5(II.1)] |
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 IgA 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 IgA 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 | 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 IgA 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 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.14(UU.IV.12 (120))]; PMID:29305966 [IV.2(IV.2)] |
106246 | F | 215977 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)] |
106249 | F | 215977 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.9(UU.III.6 (110))]; PMID:29305966 [Fam.IV.2:III.5(III.6)] |
106251 | M | 215977 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.13(UU.III.9 (112))]; PMID:29305966 [Fam.IV.2:III.7(III.3)] |
106259 | F | 215977 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)] |
106268 | M | 215977 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.10(UU.IV.9 (118))]; PMID:29305966 [Fam.IV.2:IV.6(IV.10)] |
106279 | M | 215977 | - | Caucasian | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.IV.2:V.1(V.1)] |
106281 | M | 215977 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.1(UU.V.1 (121))]; PMID:29305966 [Fam.IV.2:V.3(V.3)] |
106304 | M | 215981![]() |
50,54 | Chinese (China) | Decreased IgA levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])] |
106313 | F | 215982 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106314 | M | 215983 | -,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P2] |
106320 | M | 215984 | - | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.EX:608]; PMID:36105815 [L196V] | |
106323 | M | 215985![]() |
- | Decreased IgA levels | NFKB1 insufficiency | PMID:150198 [Fam.EZ:II.1(612)]; PMID:36105815 [Fam.R284P:II.1(R284P/1)] | |
106327 | M | 215987![]() |
6 | Italian | Decreased IgA levels | NFKB1 insufficiency | PMID:150198 [Fam.FR:III.1(734)]; PMID:37600787 [Fam.1:III.1(index)] |
106330 | F | 215987![]() |
30 | Italian | Decreased IgA 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![]() |
- | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.EU:II.1(605)]; PMID:36105815 [Fam.H67R-2:II.1(H67R/11)] | |
106347 | M | 215994 | -,- | Decreased IgA levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.EY:609]; PMID:36105815 [R198C] | |
106350 | M | 215996 | - | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.CM:I.2(CM.I.2)] | |
106351 | F | 215997 | 23 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.CZ:CZ.II.2] | |
106352 | M | 215998![]() |
3 | Decreased IgA levels | Activated p110-d syndrome 2 | PMID:34922003 [Fam.B:II.1(B1)] | |
106355 | F | 215999![]() |
17 | British | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:34922003 [Fam.C:II.1(C1)] |
106358 | M | 216000 | 20 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31993940 [Patient(II.1)] | |
106367 | F | 216003![]() |
6 | Turkish | Decreased IgA levels | Immunodeficiency 117 | PMID:36736301 [Fam.B:II.1(P2)] |
106371 | M | 216004 | 22,- | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)] | |
106390 | M | 216005 | -,- | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:32996901 [Patient(II.1)] | |
106393 | F | 216006![]() |
18,- | German | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106399 | M | 216006![]() |
51 | German | Decreased IgA levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [Fam.III.3:II.4] |
106404 | F | 210197![]() |
- | Italian | Decreased IgA levels | PMID:150198 [Fam.DZ:I.2(546)] | |
106405 | F | 210197![]() |
-,18 | Italian | Decreased IgA levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.DZ:II.3(549)] |
106409 | M | 216010![]() |
-,- | Chinese (China) | Decreased IgA 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)] | |
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 IgA 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 IgA 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.2(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.1(A.II.1)] |
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 IgA 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)] |
106637 | M | 216096![]() |
- | Danish | Decreased IgA levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32047491 [P3(II.1)] |
106642 | F | 216097 | 2 | European | Decreased IgA levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31396201 [Fam.:II.1(P1)] |
106646 | M | 216099 | - | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34628649 [Patient(III.1)] | |
106675 | M | 216105 | 18 | Egyptian | Decreased IgA levels | NFKB1 insufficiency | PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158] |
106679 | F | 216106![]() |
34 | Dutch | Decreased IgA levels | NFKB1 insufficiency | PMID:150198 [Fam.ET:II.2(600)]; PMID:36105815 [Fam.G64V:II.2(G64V/2)] |
106683 | M | 216107 | 25,- | German | Decreased IgA levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.EW:607]; PMID:36105815 [N103D] |
106684 | F | 216108 | - | Asian | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:36105815 [G136S] |
106697 | F | 216110 | - | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1] |
106700 | F | 216113 | -,28 | Japanese | Decreased IgA levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.22:22.1]; PMID:34707038 [Patient(II.1)] |
106703 | F | 216114 | - | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.21:II.1(21.2)] |
106705 | M | 216114 | - | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.21:I.1(21.1)] |
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 [Fam.23:23.1] |
106709 | F | 216116 | - | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.24:24.1] |
106711 | F | 216118 | - | Japanese | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.26:26.1] |
106712 | M | 215871![]() |
- | Spanish | Decreased IgA levels | NFKB1 insufficiency | PMID:150198 [Fam.DM:I.1(470)]; PMID:36105815 [Fam.G386R:I.1(G386R/2)] |
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![]() |
- | Palestinian | Decreased IgA levels | T-negative/B-positive SCID type 1 | PMID:32921793 [Fam.B:II.1(P1-B)] |
106753 | F | 216122![]() |
1 | Chinese (China) | Decreased IgA levels | T-negative/B-positive SCID type 1 | PMID:31309596 [Pt(II.2)] |
106760 | M | 216123![]() |
0 | Israeli | Decreased IgA levels | X-linked severe combined immunodeficiency | PMID:32921793 [Fam.A:II.1(P1-A)] |
106761 | F | 216124![]() |
1 | Caucasian | Decreased IgA levels | T-negative/B-positive SCID type 1 | PMID:28916186 [P5]; PMID:31440277 [pt(II.1)] |
106792 | F | 216141![]() |
- | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.227] | |
106816 | F | 216162 | - | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
106819 | M | 216163![]() |
54 | Chinese (China) | Decreased IgA levels | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106847 | M | 216169![]() |
40 | Caucasian | Hypogammaglobulinemia | Adenosine deaminase 2 deficiency | PMID:29963054 [P1(II.1)] |
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 | 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 | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.GA:793]; PMID:38901617 [Fam.1:I.1(P1)] | |
106954 | M | 216196![]() |
- | Decreased IgA 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] |
107145 | F | 216362![]() |
13 | Caucasian | Decreased IgA levels | Adenosine deaminase 2 deficiency | PMID:26131734 [P1(II.1)] |
107149 | M | 216363 | 1 | Iranian | Hypogammaglobulinemia | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.3(P1)] |
107156 | F | 216365![]() |
4 | Turkish | Decreased IgA levels | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.B:II.2(Patient 2)] |
107161 | F | 216366![]() |
- | Sri Lankan Tamil | Decreased IgA levels | Adenosine deaminase 2 deficiency | PMID:26607704 [P1(II.1)] |
107226 | M | 216382 | 13 | North American | Decreased IgA 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] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).