Hypogammaglobulinemia
Basic details
Preferred term: Hypogammaglobulinemia
Alt. terms: Reduced immunoglobulin levels | Decreased immunoglobulin levels | low immunoglobulins | antibody deficiency | Decreased circulating immunoglobulin level
HPO term: Decreased circulating antibody level
HPO code: HP:0004313
GenIA ID: 6
Last updated on: 2024-11-25 15:42:32
Cross ref. with other ontologies
NCIT: C26931
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: 279.00
Description
Decreased level of ANY of the major classes of serum immunoglobulins (IgA, IgG and IgM). It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.
Hierarchical classification
PARENT terms
TERM
Hypogammaglobulinemia
CHILD terms
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 | 42,- | German | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F013:P013] | |
101036 | F | 210182![]() |
- | Caucasian | Decreased IgG levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.2(B.II.1)]; PMID:29729943 [Fam.B:II.2(B.II.1 (13))]; PMID:34975878 [Fam.F014:III.2(P014)]; PMID:27418640 [P12(5)]; PMID:37740092 [P01] |
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 | 1,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F408:P408] | ||
101058 | M | 210120 | 17 | 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] | ||
101062 | M | 212603![]() |
10 | South Asian | Decreased IgM levels | ARPC1B deficiency | PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)] |
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 | -,7 | Decreased IgG levels,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 | -,36 | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F051:P051] | ||
101086 | M | 210934 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F052:P052] | |
101087 | M | 211335 | 10,- | 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 | -,18 | 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 | 35,- | Agammaglobulinemia,Hypogammaglobulinemia | PMID:34975878 [Fam.F083:P083] | ||
101135 | F | 210574 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F084:P084] | ||
101136 | M | 210356 | -,51 | Decreased IgM levels,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 | 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] | |
101153 | M | 210757 | 37 | German | Decreased IgM levels | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES55] |
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![]() |
- | 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)] |
101174 | M | 210012![]() |
37 | Dutch | Decreased IgG levels | Immunodeficiency, common variable, 20 | PMID:25926555 [Fam.Patient:I.1(father)] |
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 | -,- | Decreased IgG levels,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 | - | 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 | 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] |
101295 | M | 212146 | - | Saudi | Decreased IgM levels | Immunodeficiency, common variable, 8 | PMID:22721650 [VI:5(VI.5)]; PMID:26707784 [P6] |
101296 | M | 210135 | 5 | Arab | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.3(P1)]; PMID:26707784 [P1] |
101336 | M | 212152 | - | Omani | Agammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
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] |
101376 | F | 212162 | - | Iranian | Decreased IgM levels | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.2(P2)]; PMID:29528757 [Case 4]; PMID:26707784 [Fam.F:IV.2(P31)]; PMID:26993986 [Fam.F7:II.2(2)]; PMID:28512785 [P9] |
101379 | M | 212163 | 10 | Iranian | Hypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10] |
101382 | M | 210641 | 46 | German | Hypogammaglobulinemia | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.3(II.3)]; PMID:16384931 [Fam.C:II.3(P5)]; PMID:19426217 [Fam.C:II.3(P5)]; PMID:28861081 [Fam.3:II.3(P5)] |
101384 | M | 210217 | 39,44 | German | Decreased 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] | |
101388 | M | 212165 | 13 | Palestinian | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.1:P1]; PMID:26707784 [P20] |
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] | |
101456 | M | 210192 | 21 | Decreased IgG levels | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.A:II.2] | |
101457 | F | 211027 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F152:P152] | ||
101458 | F | 210656![]() |
-,- | Georgian | Decreased 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 | -,58 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F158:P158] | ||
101478 | F | 210353 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F159:P159] | ||
101479 | F | 210314![]() |
47,- | German | Decreased 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] |
101481 | U | 212455 | - | Italian | Decreased IgM levels | Severe combined immunodeficiency 9A, T-B- | PMID:20547828 [OS6] |
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] | ||
101505 | M | 210309 | 8 | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F170:P170] | |
101507 | M | 210508 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F171:P171] | |
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 | 48,- | Decreased IgG levels,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 | - | 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] |
101573 | F | 210707 | 6 | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F196:P196] | |
101574 | F | 210776 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F197:P197] | ||
101575 | M | 210900 | - | German | Decreased 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 | -,- | Agammaglobulinemia,Hypogammaglobulinemia | PMID:34975878 [Fam.F204:P204] | ||
101588 | M | 210935 | 47 | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F206:P206] | |
101592 | M | 212605![]() |
0 | Moroccan | Decreased IgM levels | ARPC1B deficiency | PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient] |
101601 | M | 212619![]() |
- | Italian | Decreased IgM levels | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101604 | M | 212620![]() |
4 | Italian | Decreased IgM levels | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
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![]() |
- | 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)] |
101631 | F | 212624![]() |
- | Turkish | Decreased IgM levels | ARPC1B deficiency | PMID:30254128 [Fam.F:II.1(P6)] |
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] | ||
101652 | M | 212629![]() |
3 | Nepalese | Decreased IgM levels | ARPC1B deficiency | PMID:30771411 [P4(II.1)] |
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] | ||
101667 | M | 212631![]() |
6 | Moroccan | Decreased IgM levels | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
101669 | M | 211549 | 32,- | Decreased IgA levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F234:P234] | ||
101671 | F | 212632![]() |
4 | Iranian | Decreased IgM levels | ARPC1B deficiency | PMID:30771411 [P7(IV.8)]; PMID:31710310 [Patient 2] |
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] | ||
101690 | F | 212636![]() |
4 | Jordanian | Decreased IgM levels | ARPC1B deficiency | PMID:30771411 [P13(IV.5)] |
101695 | M | 211280 | -,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F241:P241] | ||
101697 | F | 211447 | -,31 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F243:P243] | ||
101706 | F | 211545 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F245:P245] | ||
101708 | F | 211547 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F246:P246] | ||
101710 | F | 210771 | 4,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F247:P247] | ||
101711 | M | 210925![]() |
4,- | Turkish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:34975878 [Fam.F412:P412]; PMID:32278790 [Fam.BT:II.1(II.1)]; PMID:150198 [Fam.DE:II.1(460)]; PMID:36105815 [Fam.R230K:II.1(R230K/2)] |
101717 | F | 210260![]() |
-,- | Caucasian | Decreased 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![]() |
9 | North American | Decreased IgA levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.10(P7)] |
101738 | M | 210300![]() |
6 | 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 | - | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
101773 | M | 210876![]() |
-,11 | German | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:34975878 [Fam.F413:P413]; PMID:32278790 [Fam.BK:II.1(II.1)]; PMID:150198 [Fam.CC:II.1(405)]; PMID:36105815 [R57C/1] |
101774 | M | 210908![]() |
-,- | Argentinian | Decreased 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] | |
101777 | F | 210920 | - | Libyan | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:26745254 [P1(II.1)] |
101780 | M | 210923![]() |
0 | German | Decreased IgG levels | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.II:III.1(P3)] |
101788 | M | 210950![]() |
-,- | Swiss | 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 | Decreased IgG levels,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 | Decreased IgG levels,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 | 11 | 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 | -,23 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F288:P288] | ||
101825 | M | 211554 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F289:P289] | ||
101826 | F | 211561 | - | German | Hypogammaglobulinemia | PMID:34975878 [Fam.F290:P290] | |
101827 | M | 211564 | -,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 | 4 | 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 | 1,- | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F409:P409] | ||
101953 | M | 212093 | 2,- | Decreased IgM levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F410:P410] | ||
101956 | M | 211966 | - | Hypogammaglobulinemia | PMID:34975878 [Fam.F389:P389] | ||
101957 | M | 212517 | -,26 | Decreased IgG levels,Hypogammaglobulinemia | PMID:34975878 [Fam.F391:P391] | ||
101959 | M | 210641 | 42 | German | Decreased 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] | ||
101973 | F | 214053![]() |
17 | Turkish | Decreased IgM levels | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.6(D.II.4)]; PMID:34390440 [HIES52] |
101974 | F | 214053![]() |
- | Turkish | Decreased IgM levels | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.3(D.II.2)] |
101975 | F | 214053![]() |
- | Turkish | Decreased IgM levels | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
101987 | F | 214115 | - | Hypogammaglobulinemia | PMID:34390440 [NEG094] | ||
102134 | M | 214352![]() |
- | Sudanese | Transient hypogammaglobulinemia of infancy | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.6(C.II.6)] |
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] |
102274 | F | 214929![]() |
0 | German | Decreased IgG levels | OAS1 immunodeficiency | PMID:34145065 [P1(II.2)] |
102277 | M | 214930![]() |
- | North American | Decreased IgG levels | OAS1 immunodeficiency | PMID:34145065 [P2(II.1)] |
102281 | M | 214931![]() |
- | North American | Decreased 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)] |
102357 | M | 214937![]() |
1 | German | Decreased IgM levels | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.A:II.1(P1)] |
102396 | F | 214944![]() |
1 | Saudi | Decreased IgG levels | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.4(P5)] |
102397 | F | 214944![]() |
0 | Saudi | Decreased IgM levels | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.5(P6)] |
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)] |
102425 | M | 214949![]() |
47 | French | Decreased IgG levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:II.2(P2)] |
102426 | F | 214949![]() |
10 | French | Decreased IgA levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.2(P4)] |
102439 | M | 214956![]() |
38 | Bulgarian | Decreased IgG levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
102444 | M | 214957![]() |
25 | Slovak | Decreased IgA levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
102449 | F | 214958![]() |
27 | Mexican/Salvadoran | Decreased IgM levels | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
102466 | M | 214962![]() |
2,5 | Polish | Decreased IgA levels,Hypogammaglobulinemia | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
102474 | M | 214963![]() |
7 | Admixed | Decreased IgM levels | Hyper-IgE recurrent infection syndrome 4B | PMID:33771552 [Patient(II.1)] |
102530 | M | 214966![]() |
33 | Japanese | Decreased IgA levels | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
102626 | M | 214969![]() |
- | Filipino | Decreased IgG levels | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.1:II.1(P1)] |
102630 | M | 214970![]() |
3 | European | Decreased IgA levels | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
102633 | M | 214971![]() |
19 | European | Decreased IgG levels | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.3:II.1(P3)] |
102637 | M | 214972![]() |
17 | Decreased IgA levels | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
102645 | M | 214974![]() |
- | Caucasian | Decreased IgG levels | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
102731 | F | 214982![]() |
8 | Colombian | Decreased 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)] |
102881 | F | 215003![]() |
0 | Portuguese | Decreased IgG levels | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.1:II.1(P1)]; PMID:33464451 [P3]; PMID:28077132 [P7]; PMID:22590644 [Patient(II.1)] |
102891 | F | 215006![]() |
1 | Indian | Decreased IgG levels | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6] |
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)] |
103051 | M | 215095![]() |
9 | Finnish | Decreased IgM levels | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
103062 | M | 215096![]() |
- | Finnish | Decreased IgM levels | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
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)] |
103281 | F | 215111![]() |
2 | Chinese (China) | Decreased IgG levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
103285 | F | 215112![]() |
1 | Ashkenazi Jewish | Decreased IgG levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:II.1(P2)] |
103286 | M | 215112![]() |
2 | Ashkenazi Jewish | Decreased IgG levels | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:I.1(P3)] |
103288 | F | 215113![]() |
21 | Hungarian | Decreased 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)] |
103459 | M | 215131![]() |
4 | Omani | Decreased IgM levels | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.3:II.1(P3)] |
103478 | M | 215135![]() |
- | French | Decreased IgG levels | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
103485 | F | 215137![]() |
7 | French | Hypogammaglobulinemia | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103538 | F | 215155![]() |
1 | Mexican | Decreased IgM levels | ARPC1B deficiency | PMID:36708766 [Fam.B:II.2(P3)] |
103541 | M | 215155![]() |
2 | Mexican | Decreased IgM levels | ARPC1B deficiency | PMID:36708766 [Fam.B:II.1(P4)] |
103547 | M | 215157![]() |
11 | Mexican | Decreased IgG levels | ARPC1B deficiency | PMID:36708766 [Fam.D:II.4(P6)] |
103820 | M | 215254![]() |
11 | French | Decreased IgA levels | Adenosine deaminase 2 deficiency | PMID:25278816 [Fam.F785:II.5(P1)] |
103830 | F | 215256![]() |
- | European | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.1:II.2(P1)] |
103834 | F | 215257![]() |
- | European | Decreased IgA levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.2:II.3(P2)] |
103839 | M | 215258![]() |
- | European | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.3:II.3(P3)] |
103844 | F | 215259![]() |
- | European | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.4:II.2(P4)] |
103848 | M | 215260![]() |
- | European | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.5:II.1(P5)] |
103855 | F | 215262![]() |
- | Turkish | Decreased IgM levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.7:II.1(P7)]; PMID:26233953 [Fam.F2:II.2(P2)] |
103858 | M | 215262![]() |
- | Turkish | Decreased IgM levels | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.7:II.2(P8)]; PMID:26233953 [Fam.F2:II.1(P3)] |
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 | Decreased IgG levels,Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
103997 | M | 215318![]() |
-,- | Decreased IgG levels,Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
103998 | M | 215319![]() |
- | Decreased 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![]() |
-,- | Decreased IgG levels,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] | |
104005 | F | 215326![]() |
- | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4] | |
104007 | M | 215326![]() |
- | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:I.2(P10)]; PMID:35677041 [Pt5] | |
104237 | M | 215421![]() |
- | European/American | Decreased IgM levels | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [ref.8]; PMID:36932076 [P1(II.3)]; GRID:000818 [Patient]; GRID:000819 [pt.1] |
104268 | M | 215444![]() |
- | Ashkenazi Jewish | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
104395 | M | 215521![]() |
- | British | Decreased IgM levels | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [ref.9]; PMID:36932076 [P2(II.1)]; GRID:000819 [pt.2] |
104398 | M | 215522![]() |
- | Czech | Decreased IgA levels | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36932076 [P3(II.1)] |
104403 | M | 215524![]() |
2 | Asian | Decreased IgG levels | Early-onset atopic inflammation | PMID:36216080 [Index(III.1)] |
104409 | F | 215524![]() |
1 | Asian | Decreased IgG levels | Early-onset atopic inflammation | PMID:36216080 [Fam.Index:III.3(sister2)] |
104481 | M | 215536![]() |
10 | Caucasian | Hypogammaglobulinemia | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.2(P14)] |
104491 | M | 215536![]() |
8 | Caucasian | Hypogammaglobulinemia | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.3(P15)] |
104532 | M | 215544![]() |
- | Caucasian | Decreased IgM levels | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.A:II.1(Patient A)] |
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)] |
104733 | F | 215572![]() |
- | French | Decreased IgG levels | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:II.16] |
104773 | F | 215572![]() |
- | French | Decreased IgG levels | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.7] |
104782 | M | 215572![]() |
- | French | Decreased IgG levels | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:V.2] |
104786 | F | 215573![]() |
13 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)] | |
104787 | M | 215573![]() |
40 | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
104790 | M | 215574![]() |
- | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
104797 | M | 215577![]() |
- | Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
104838 | M | 215578![]() |
-,- | Caucasian | Decreased 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![]() |
59 | 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)] |
104957 | M | 215622![]() |
60 | Dutch | Decreased IgM levels | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.20(II.20)]; PMID:26279205 [Fam.NL1:II.23(21)]; PMID:29403474 [Fam.NL1 (5):II.23(21)]; PMID:11583829 [Fam.1:II.23(II:23)]; PMID:16639407 [Fam.1:II.23(21)]; PMID:150198 [Fam.AA:II.23(025)] |
104962 | F | 215622![]() |
52 | Dutch | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.3(III.3)]; PMID:26279205 [Fam.NL1:III.4(25)]; PMID:29403474 [Fam.NL1 (5):III.4(25)]; PMID:11583829 [Fam.1:III.3(III:3)]; PMID:16639407 [Fam.1:III.4(25)]; PMID:150198 [Fam.AA:III.4(030)] |
104970 | M | 215622![]() |
40 | 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![]() |
- | 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 | Decreased IgG levels,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 | Decreased IgG levels,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![]() |
- | 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] |
105149 | M | 215654![]() |
- | Chinese (China) | Decreased IgG levels | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
105172 | M | 215659 | -,- | Caucasian | 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 | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [L.II.2]; PMID:29729943 [Fam.L:II.2(L.II.2 (36))]; PMID:27102614 [Fam.C:II.2(4)] |
105179 | F | 215661 | -,- | Caucasian | Decreased IgG levels,Hypogammaglobulinemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)] |
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 | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.3(III.3)]; PMID:29403474 [Fam.1 (9):III.3(F1.III-3)]; PMID:28115215 [Fam.1:III.3(F1.III-3)]; PMID:150198 [Fam.AQ:III.3(177)]; PMID:36356849 [Fam.6:III.3(F6:III:3)]; PMID:36105815 [Fam.H67R:III.3(H67R/4)] |
105204 | M | 215670![]() |
0 | Decreased IgA levels | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.1:II.1(G.M.)] | |
105212 | F | 215666![]() |
44,44 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)] |
105214 | F | 215666![]() |
-,29 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.2(III.2)]; PMID:29403474 [Fam.1 (9):III.2(F1.III-2)]; PMID:28115215 [Fam.1:III.2(F1.III-2)]; PMID:150198 [Fam.AQ:III.2(176)]; PMID:36356849 [Fam.6:III.2(F6:III:2)]; PMID:36105815 [Fam.H67R:III.2(H67R/3)] |
105218 | F | 215666![]() |
-,26 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.6(III.6)]; PMID:29403474 [Fam.1 (9):III.6(F1.III-6)]; PMID:28115215 [Fam.1:III.6(F1.III-6)]; PMID:150198 [Fam.AQ:III.6(180)]; PMID:36356849 [Fam.6:III.6(F6:III:6)]; PMID:36105815 [Fam.H67R:III.6(H67R/5)] |
105219 | F | 215666![]() |
28 | Finnish | Decreased IgE levels | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.7(III.7)]; PMID:29403474 [Fam.1 (9):III.7(F1.III-7)]; PMID:28115215 [Fam.1:III.7(F1.III-7)]; PMID:150198 [Fam.AQ:III.7(181)]; PMID:36356849 [Fam.6:III.7(F6:III:7)]; PMID:36105815 [Fam.H67R:III.7(H67R/6)] |
105220 | F | 215666![]() |
-,13 | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)] |
105221 | M | 215666![]() |
10,- | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:IV.2(IV.2)]; PMID:28115215 [Fam.1:IV.1(F1.IV-1)]; PMID:150198 [Fam.AQ:IV.1(183)]; PMID:36356849 [Fam.6:IV.1(F6:IV:1)]; PMID:36105815 [Fam.H67R:IV.1(H67R/8)] |
105222 | F | 215666![]() |
2,- | Finnish | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:IV.1(IV.1)]; PMID:29403474 [Fam.1 (9):IV.2(F1.IV-2)]; PMID:28115215 [Fam.1:IV.2(F1.IV-2)]; PMID:150198 [Fam.AQ:IV.2(184)]; PMID:36356849 [Fam.6:IV.2(F6:IV:2)]; PMID:36105815 [Fam.H67R:IV.2(H67R/9)] |
105225 | F | 215671![]() |
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)] |
105232 | M | 215672![]() |
- | Finnish | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.1(II.1)]; PMID:29403474 [Fam.3 (9):II.1(F3.II-1)]; PMID:28115215 [Fam.3:II.1(F3.II-1)]; PMID:150198 [Fam.AS:II.1(196)]; PMID:36356849 [Fam.3:II.1(F3:II:1)]; PMID:36892687 [II:1(II.1)]; PMID:38593810 [Fam.1:II.1(F1.II-1)] |
105234 | F | 215672![]() |
- | Finnish | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.F3:I.2(I.2)]; PMID:28115215 [Fam.3:I.2(F3.I-2)]; PMID:150198 [Fam.AS:I.2(195)]; PMID:36356849 [Fam.3:I.2(F3:I:2)]; PMID:36892687 [I:2(I.2)]; PMID:38593810 [Fam.1:I.2(F1.I-2)] |
105239 | F | 215672![]() |
57 | Finnish | Decreased IgM levels | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.8(II.6)]; PMID:28115215 [Fam.3:II.6(F3.II-6)]; PMID:150198 [Fam.AS:II.14(209)]; PMID:36356849 [Fam.3:II.14(F3:II:14)]; PMID:36892687 [II:7(II.7)]; PMID:38593810 [Fam.1:II.13(F1.II-7)] |
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)] |
105307 | M | 215686![]() |
- | European | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.C:III.4(III.4)]; PMID:29477724 [Fam.C:III.4(III:4)]; PMID:150198 [Fam.AW:III.4(256)] |
105308 | F | 215687![]() |
-,- | European | Decreased 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.-)] | |
105348 | M | 215710 | 1 | Panhypogammaglobulinemia | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P1(II.-)] | |
105350 | M | 215712 | 5 | Omani | Agammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:28690850 [P1] |
105359 | F | 210314![]() |
- | German | Decreased IgM levels | NFKB1 insufficiency | PMID:32278790 [Fam.BF:III.2(III.2)]; PMID:150198 [Fam.AO:III.1(166)]; GRID:001142 [Fam.#:III.1(FR113)] |
105363 | F | 215722 | 13 | Afro-American | Decreased IgM levels | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
105370 | F | 215725 | -,- | Caucasian | 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)] |
105400 | M | 215751 | - | Turkish | Decreased IgG levels | Immunodeficiency, common variable, 8 | PMID:32219082 [Patient 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)] |
105421 | F | 215762![]() |
6 | Caucasian | Decreased IgM levels | NFKB1 insufficiency | PMID:32278790 [Fam.BB:II.1(II.1)]; PMID:30063981 [Fam.1:III.1(III.1)]; PMID:150198 [Fam.BM:III.1(301)] |
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 | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.BS:II.2(320)]; PMID:31803180 [Fam.B:II.2(S4)] |
105467 | M | 215773 | 6 | Hypogammaglobulinemia | Angioedema, hereditary, types I and II, 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 | Decreased IgG levels,Hypogammaglobulinemia | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.A:II.1(A.1)] |
105486 | F | 215779![]() |
- | Afro-American | Panhypogammaglobulinemia | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.C:II.1(C.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 | - | 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 | 40,- | Decreased IgG levels,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 | 11,21 | 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)] |
105626 | M | 215822 | - | Caucasian | Decreased IgG levels | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.1(P3)] |
105630 | M | 215824 | 1 | Hypogammaglobulinemia | Immunodeficiency 84 | PMID:34694366 [Fam.1:II.2(p2)] | |
105633 | F | 215827 | - | Hypogammaglobulinemia | Immunodeficiency 84 | PMID:34694366 [Fam.1:II.1(p3)] | |
105635 | F | 215829 | - | Caucasian | Hypogammaglobulinemia | Activated p110-delta syndrome 1 | PMID:26371693 [1] |
105641 | F | 215831![]() |
- | Chinese (China) | Decreased 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)] | |
105659 | F | 215836 | - | Decreased IgG levels | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
105660 | F | 215836 | 1 | Decreased IgG levels | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.3(Sibling 3)] | |
105666 | M | 215672![]() |
- | Finnish | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.F3:III.2(III.2)]; PMID:150198 [Fam.AS:III.8(217)]; PMID:36356849 [Fam.3:III.8(F3:III:8)]; PMID:36892687 [III:2(III.2)]; PMID:38593810 [Fam.1:III.8(F1.III-8)] |
105679 | M | 215839![]() |
-,- | Caucasian | Decreased IgA levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
105686 | F | 215839![]() |
- | Caucasian | Decreased IgM levels | NFKB1 insufficiency | PMID:32278790 [Fam.BH:III.3(III.3)]; PMID:150198 [Fam.CD:III.3(414)] |
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] |
105761 | F | 215851![]() |
71 | Finnish | Decreased IgG levels | Immunodeficiency, common variable, 14 | PMID:34451894 [Fam.Patient:II.1(sister)]; PMID:37876937 [Fam.C:II.1(C.2)] |
105767 | M | 211008![]() |
60 | Caucasian | Decreased IgG levels | NFKB1 insufficiency | PMID:32278790 [Fam.BS:I.1(I.1)]; PMID:150198 [Fam.DD:I.1(455)]; PMID:36105815 [Fam.M216V:I.1(M216V/2)] |
105769 | F | 210925![]() |
- | Turkish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.BT:I.1(I.1)]; PMID:150198 [Fam.DE:I.2(459)]; PMID:36105815 [Fam.R230K:I.1(R230K/1)] |
105771 | F | 210925![]() |
- | Turkish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.BT:II.2(II.3)]; PMID:150198 [Fam.DE:II.2(461)]; PMID:36105815 [Fam.R230K:II.2(R230K/3)] |
105772 | F | 210925![]() |
- | Turkish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [Fam.BT:II.3(II.2)]; PMID:150198 [Fam.DE:II.3(462)]; PMID:36105815 [Fam.R230K:II.3(R230K/4)] |
105773 | M | 215866 | 63,- | German | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
105774 | F | 215867 | - | German | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:32278790 [BV.I.1]; PMID:150198 [Fam.DG:464]; PMID:36105815 [P246T] |
105775 | F | 215868 | - | 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)] |
105799 | M | 215881![]() |
- | Pakistani | Decreased IgM levels | Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
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)] | |
105859 | F | 215894![]() |
- | British | Decreased IgM levels | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)] |
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![]() |
- | British | Decreased IgA levels | Immunodeficiency, common variable, 2 | PMID:150198 [Fam.EA:III.1(556)]; PMID:34922003 [Fam.A:III.1(A4)] |
105894 | F | 215900![]() |
- | North American | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.DW:I.2(537)]; PMID:34307247 [Fam.1:I.2(mother)] |
105898 | F | 215901![]() |
- | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.DY:II.1(544)]; PMID:34825039 [Fam.1:II.1(index)] | |
105899 | F | 215900![]() |
-,- | North American | Decreased 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)] | |
105990 | F | 215921![]() |
- | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.FG:III.1(631)]; PMID:36203612 [Fam.1:III.1(1.III.1)] | |
105991 | M | 215922![]() |
-,55 | Decreased IgA levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FH:II.1(634)]; PMID:36203612 [Fam.2:II.2(2.II.1)] | |
105995 | M | 215922![]() |
-,- | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FH:II.3(636)]; PMID:36203612 [Fam.2:II.3(2.II.2)] | |
105999 | F | 215922![]() |
-,- | Decreased 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 | Decreased IgM levels,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 | Decreased IgG levels,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 | Decreased IgG levels,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)] |
106109 | M | 215952![]() |
4 | Iranian | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
106173 | M | 215972 | - | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FJ:661]; PMID:34619682 [P.254] | |
106193 | M | 215974![]() |
- | Finnish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FL:III.8(678)]; PMID:36356849 [Fam.1:III.8(F1:III:8)] |
106200 | F | 215975![]() |
- | Finnish | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.2(693)]; PMID:36356849 [Fam.2:III.2(F2:III:2)] |
106209 | F | 215975![]() |
-,53 | Finnish | Decreased 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 | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.8(707)]; PMID:36356849 [Fam.2:IV.8(F2:IV:8)] |
106223 | M | 215976![]() |
-,44 | Finnish | Decreased 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 | Decreased IgG levels,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 | Decreased IgG levels,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 | Decreased IgG levels,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 | Decreased IgG levels,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 | Decreased IgM levels,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 | Decreased IgG levels,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![]() |
-,14 | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.EU:II.1(605)]; PMID:36105815 [Fam.H67R-2:II.1(H67R/11)] | |
106347 | M | 215994 | -,- | Decreased 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![]() |
- | British | Decreased IgA levels | Activated p110-delta syndrome 1 | PMID:34922003 [Fam.C:II.1(C1)] |
106358 | M | 216000 | 20,20 | Decreased IgG levels,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)] | |
106423 | F | 216015![]() |
9 | Decreased IgM levels | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.4(765)]; PMID:38130541 [Fam.1:III.4(P1)] | |
106445 | M | 216015![]() |
- | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)] | |
106456 | F | 216020![]() |
- | Chinese (China) | Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FS:II.1(737)]; PMID:37705523 [Fam.1:II.1(index)] |
106463 | F | 216023![]() |
- | Japanese | Decreased 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] |
106676 | F | 216106![]() |
68 | Dutch | Decreased IgG levels | NFKB1 insufficiency | PMID:150198 [Fam.ET:I.2(598)]; PMID:36105815 [Fam.G64V:I.2(G64V/1)] |
106679 | F | 216106![]() |
34 | Dutch | Decreased 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] | |
106794 | F | 216145![]() |
- | German | Panhypogammaglobulinemia | Immunodeficiency, common variable, 14 | PMID:34619682 [P.263]; PMID:39059757 [Fam.1:II.2(P2)] |
106807 | F | 216145![]() |
14 | German | Panhypogammaglobulinemia | Immunodeficiency, common variable, 14 | PMID:34619682 [P.159]; PMID:39059757 [Fam.1:II.1(P1)] |
106811 | M | 216157 | - | German | Panhypogammaglobulinemia | Immunodeficiency, common variable, 14 | PMID:39059757 [P3] |
106812 | F | 216158 | 16 | Panhypogammaglobulinemia | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
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)] |
106853 | M | 216172 | - | South Asian | Decreased IgM levels | Adenosine deaminase 2 deficiency | PMID:31008556 [Fam.4:P4] |
106854 | F | 216173![]() |
- | Caucasian | Decreased IgM levels | Adenosine deaminase 2 deficiency | PMID:31008556 [Fam.5:II.1(P5)] |
106857 | F | 216173![]() |
- | Caucasian | Decreased IgM levels | Adenosine deaminase 2 deficiency | PMID:31008556 [Fam.5:II.2(P6)] |
106858 | F | 216174 | 4 | East Asian | Decreased IgM levels | Adenosine deaminase 2 deficiency | PMID:31008556 [Fam.6:P7] |
106862 | M | 216176 | 9 | Japanese | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.1:II.3(P1)] |
106867 | M | 216177 | 13 | Japanese | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.2:II.1(P2)] |
106868 | M | 216177 | 18 | Japanese | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.2:II.2(P3)] |
106880 | F | 216180 | 13 | Japanese | Decreased IgM levels | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.5:II.2(P7)] |
106884 | F | 216181 | 12 | Japanese | Decreased IgM levels | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.6:II.2(P8)] |
106892 | M | 216183 | - | Caucasian | Hypogammaglobulinemia | Immunodeficiency, common variable, 17 | PMID:27231034 [Fam.F1:III.3(P1.1)] |
106895 | M | 216183 | - | Caucasian | Hypogammaglobulinemia | Immunodeficiency, common variable, 17 | PMID:27231034 [Fam.F1:III.6(P1.2)] |
106912 | F | 216186 | 49,49 | Hypogammaglobulinemia,Panhypogammaglobulinemia | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
106939 | M | 216189![]() |
-,- | Caucasian | Decreased IgM levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
106953 | M | 216195 | 7,7 | Decreased IgG levels,Hypogammaglobulinemia | NFKB1 insufficiency | PMID:150198 [Fam.GA:793]; PMID:38901617 [Fam.1:I.1(P1)] | |
106954 | M | 216196![]() |
- | Decreased 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)] |
107096 | F | 216332 | - | Japanese | Dysgammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
107097 | F | 216333![]() |
9 | Japanese | Hypogammaglobulinemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.4:P4.1] |
107118 | F | 216340![]() |
1 | Iranian | Decreased IgG levels | Autoinflammation with episodic fever and immune dysregulation | PMID:38609546 [P2(II.2)] |
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)] |
107151 | M | 216364![]() |
6 | Turkish | Decreased IgM levels | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.A:II.1(Patient 1)] |
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)] |
107164 | F | 216366![]() |
18 | Sri Lankan Tamil | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:26607704 [Fam.P1:II.2(P2)] |
107181 | M | 216372![]() |
- | Iraqi | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.A:V.3(A5)] |
107213 | M | 216375![]() |
- | Caucasian | Decreased IgM levels | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.C:II.1(C1)] |
107217 | M | 216376 | - | Caucasian | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:27059682 [D] |
107218 | F | 216377 | - | Caucasian | Decreased IgG levels | Adenosine deaminase 2 deficiency | PMID:27059682 [E] |
107220 | M | 216379![]() |
- | Swedish | Decreased IgM levels | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.G:II.1(G1)] |
107223 | M | 216379![]() |
- | Swedish | Decreased IgM levels | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.G:II.2(G2)] |
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] |
107249 | F | 216398![]() |
2 | Argentinian | Decreased IgG levels | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt7]; PMID:29378236 [Fam.1:Patient 1] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).