MCID: IMM058
MIFTS: 16

Immunodeficiency, Common Variable, 7

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 7

MalaCards integrated aliases for Immunodeficiency, Common Variable, 7:

Name: Immunodeficiency, Common Variable, 7 57 75 13 73
Common Variable Immunodeficiency 7 29 6
Cvid7 57 75
Immunodeficiency, Variable, Common, Type 7 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
one patient has been reported (last curated july 2012)


HPO:

32
immunodeficiency, common variable, 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614699
MeSH 44 D017074
UMLS 73 C3542922

Summaries for Immunodeficiency, Common Variable, 7

UniProtKB/Swiss-Prot : 75 Immunodeficiency, common variable, 7: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.

MalaCards based summary : Immunodeficiency, Common Variable, 7, is also known as common variable immunodeficiency 7. An important gene associated with Immunodeficiency, Common Variable, 7 is CR2 (Complement C3d Receptor 2). Affiliated tissues include b cells, and related phenotypes are recurrent respiratory infections and immunodeficiency

Description from OMIM: 614699

Related Diseases for Immunodeficiency, Common Variable, 7

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 7

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory infections, recurrent

Immunology:
recurrent infections
hypogammaglobulinemia

Abdomen Gastrointestinal:
diarrhea, recurrent

Laboratory Abnormalities:
deceased igg
decreased iga
low-normal igm
decreased switched memory b cells
proper antibody response to protein vaccinations


Clinical features from OMIM:

614699

Human phenotypes related to Immunodeficiency, Common Variable, 7:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 immunodeficiency 32 HP:0002721
3 chronic diarrhea 32 HP:0002028
4 iga deficiency 32 HP:0002720

Drugs & Therapeutics for Immunodeficiency, Common Variable, 7

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 7

Genetic Tests for Immunodeficiency, Common Variable, 7

Genetic tests related to Immunodeficiency, Common Variable, 7:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 7 29 CR2

Anatomical Context for Immunodeficiency, Common Variable, 7

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 7:

41
B Cells

Publications for Immunodeficiency, Common Variable, 7

Variations for Immunodeficiency, Common Variable, 7

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 7:

6
(show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 CR2 NM_001006658.2(CR2): c.2297G> A (p.Trp766Ter) single nucleotide variant Pathogenic rs398122863 GRCh37 Chromosome 1, 207647642: 207647642
2 CR2 NM_001006658.2(CR2): c.2297G> A (p.Trp766Ter) single nucleotide variant Pathogenic rs398122863 GRCh38 Chromosome 1, 207474297: 207474297
3 CR2 NM_001006658.2(CR2): c.1225+1G> C single nucleotide variant Pathogenic rs398122864 GRCh37 Chromosome 1, 207643448: 207643448
4 CR2 NM_001006658.2(CR2): c.1225+1G> C single nucleotide variant Pathogenic rs398122864 GRCh38 Chromosome 1, 207470103: 207470103
5 CR2 NM_001006658.2(CR2): c.524C> T (p.Pro175Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs75282758 GRCh37 Chromosome 1, 207641950: 207641950
6 CR2 NM_001006658.2(CR2): c.524C> T (p.Pro175Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs75282758 GRCh38 Chromosome 1, 207468605: 207468605
7 CR2 NM_001006658.2(CR2): c.2611G> T (p.Val871Leu) single nucleotide variant Likely benign rs144572703 GRCh37 Chromosome 1, 207648456: 207648456
8 CR2 NM_001006658.2(CR2): c.2611G> T (p.Val871Leu) single nucleotide variant Likely benign rs144572703 GRCh38 Chromosome 1, 207475111: 207475111
9 CR2 NM_001006658.2(CR2): c.2649T> C (p.Gly883=) single nucleotide variant Benign rs1143665 GRCh37 Chromosome 1, 207648494: 207648494
10 CR2 NM_001006658.2(CR2): c.2649T> C (p.Gly883=) single nucleotide variant Benign rs1143665 GRCh38 Chromosome 1, 207475149: 207475149
11 CR2 NM_001006658.2(CR2): c.624C> G (p.Pro208=) single nucleotide variant Benign rs61759494 GRCh37 Chromosome 1, 207642050: 207642050
12 CR2 NM_001006658.2(CR2): c.624C> G (p.Pro208=) single nucleotide variant Benign rs61759494 GRCh38 Chromosome 1, 207468705: 207468705
13 CR2 NM_001006658.2(CR2): c.2844G> A (p.Glu948=) single nucleotide variant Benign/Likely benign rs61754518 GRCh37 Chromosome 1, 207649706: 207649706
14 CR2 NM_001006658.2(CR2): c.2844G> A (p.Glu948=) single nucleotide variant Benign/Likely benign rs61754518 GRCh38 Chromosome 1, 207476361: 207476361
15 CR2 NM_001006658.2(CR2): c.1676G> A (p.Gly559Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs143614333 GRCh37 Chromosome 1, 207646222: 207646222
16 CR2 NM_001006658.2(CR2): c.1676G> A (p.Gly559Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs143614333 GRCh38 Chromosome 1, 207472877: 207472877
17 CR2 NM_001006658.2(CR2): c.624C> A (p.Pro208=) single nucleotide variant Benign rs61759494 GRCh38 Chromosome 1, 207468705: 207468705
18 CR2 NM_001006658.2(CR2): c.624C> A (p.Pro208=) single nucleotide variant Benign rs61759494 GRCh37 Chromosome 1, 207642050: 207642050
19 CR2 NM_001006658.2(CR2): c.1617C> T (p.Thr539=) single nucleotide variant Benign rs34349246 GRCh38 Chromosome 1, 207472818: 207472818
20 CR2 NM_001006658.2(CR2): c.1617C> T (p.Thr539=) single nucleotide variant Benign rs34349246 GRCh37 Chromosome 1, 207646163: 207646163
21 CR2 NM_001006658.2(CR2): c.2298G> A (p.Trp766Ter) single nucleotide variant Uncertain significance rs151093663 GRCh38 Chromosome 1, 207474298: 207474298
22 CR2 NM_001006658.2(CR2): c.2298G> A (p.Trp766Ter) single nucleotide variant Uncertain significance rs151093663 GRCh37 Chromosome 1, 207647643: 207647643
23 CR2 NM_001006658.2(CR2): c.2352T> C (p.Ile784=) single nucleotide variant Benign rs142319454 GRCh38 Chromosome 1, 207474852: 207474852
24 CR2 NM_001006658.2(CR2): c.2352T> C (p.Ile784=) single nucleotide variant Benign rs142319454 GRCh37 Chromosome 1, 207648197: 207648197
25 CR2 NM_001006658.2(CR2): c.2445A> G (p.Gly815=) single nucleotide variant Benign rs141282665 GRCh37 Chromosome 1, 207648290: 207648290
26 CR2 NM_001006658.2(CR2): c.2445A> G (p.Gly815=) single nucleotide variant Benign rs141282665 GRCh38 Chromosome 1, 207474945: 207474945
27 CR2 NM_001006658.2(CR2): c.3189-8_3189-7delCT deletion Benign rs112859639 GRCh38 Chromosome 1, 207485456: 207485457
28 CR2 NM_001006658.2(CR2): c.3189-8_3189-7delCT deletion Benign rs112859639 GRCh37 Chromosome 1, 207658801: 207658802
29 CR2 NM_001006658.2(CR2): c.3251C> A (p.Ser1084Tyr) single nucleotide variant Uncertain significance rs142273168 GRCh37 Chromosome 1, 207658871: 207658871
30 CR2 NM_001006658.2(CR2): c.3251C> A (p.Ser1084Tyr) single nucleotide variant Uncertain significance rs142273168 GRCh38 Chromosome 1, 207485526: 207485526
31 CR2 NM_001006658.2(CR2): c.1458T> C (p.Phe486=) single nucleotide variant Likely benign rs147378770 GRCh37 Chromosome 1, 207644397: 207644397
32 CR2 NM_001006658.2(CR2): c.1458T> C (p.Phe486=) single nucleotide variant Likely benign rs147378770 GRCh38 Chromosome 1, 207471052: 207471052
33 CR2 NM_001006658.2(CR2): c.1390C> T (p.Pro464Ser) single nucleotide variant Uncertain significance rs41313740 GRCh37 Chromosome 1, 207644249: 207644249
34 CR2 NM_001006658.2(CR2): c.1390C> T (p.Pro464Ser) single nucleotide variant Uncertain significance rs41313740 GRCh38 Chromosome 1, 207470904: 207470904
35 CR2 NM_001006658.2(CR2): c.52G> A (p.Val18Ile) single nucleotide variant Uncertain significance rs892246082 GRCh37 Chromosome 1, 207627815: 207627815
36 CR2 NM_001006658.2(CR2): c.52G> A (p.Val18Ile) single nucleotide variant Uncertain significance rs892246082 GRCh38 Chromosome 1, 207454470: 207454470
37 CR2 NM_001006658.2(CR2): c.389T> C (p.Val130Ala) single nucleotide variant Uncertain significance rs543886209 GRCh38 Chromosome 1, 207466856: 207466856
38 CR2 NM_001006658.2(CR2): c.389T> C (p.Val130Ala) single nucleotide variant Uncertain significance rs543886209 GRCh37 Chromosome 1, 207640201: 207640201
39 CR2 NM_001006658.2(CR2): c.605A> C (p.Lys202Thr) single nucleotide variant Uncertain significance rs893377104 GRCh38 Chromosome 1, 207468686: 207468686
40 CR2 NM_001006658.2(CR2): c.605A> C (p.Lys202Thr) single nucleotide variant Uncertain significance rs893377104 GRCh37 Chromosome 1, 207642031: 207642031
41 CR2 NM_001006658.2(CR2): c.1597A> T (p.Ile533Phe) single nucleotide variant Uncertain significance rs762951469 GRCh38 Chromosome 1, 207472798: 207472798
42 CR2 NM_001006658.2(CR2): c.1597A> T (p.Ile533Phe) single nucleotide variant Uncertain significance rs762951469 GRCh37 Chromosome 1, 207646143: 207646143
43 CR2 NM_001006658.2(CR2): c.1622G> T (p.Ser541Ile) single nucleotide variant Benign rs144075435 GRCh38 Chromosome 1, 207472823: 207472823
44 CR2 NM_001006658.2(CR2): c.1622G> T (p.Ser541Ile) single nucleotide variant Benign rs144075435 GRCh37 Chromosome 1, 207646168: 207646168
45 CR2 NM_001006658.2(CR2): c.1931G> A (p.Cys644Tyr) single nucleotide variant Uncertain significance rs149972318 GRCh38 Chromosome 1, 207473132: 207473132
46 CR2 NM_001006658.2(CR2): c.1931G> A (p.Cys644Tyr) single nucleotide variant Uncertain significance rs149972318 GRCh37 Chromosome 1, 207646477: 207646477
47 CR2 NM_001006658.2(CR2): c.2006A> G (p.His669Arg) single nucleotide variant Likely benign rs139230275 GRCh38 Chromosome 1, 207473572: 207473572
48 CR2 NM_001006658.2(CR2): c.2006A> G (p.His669Arg) single nucleotide variant Likely benign rs139230275 GRCh37 Chromosome 1, 207646917: 207646917
49 CR2 NM_001006658.2(CR2): c.2738C> T (p.Pro913Leu) single nucleotide variant Uncertain significance rs772503117 GRCh38 Chromosome 1, 207476255: 207476255
50 CR2 NM_001006658.2(CR2): c.2738C> T (p.Pro913Leu) single nucleotide variant Uncertain significance rs772503117 GRCh37 Chromosome 1, 207649600: 207649600

Expression for Immunodeficiency, Common Variable, 7

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 7.

Pathways for Immunodeficiency, Common Variable, 7

GO Terms for Immunodeficiency, Common Variable, 7

Sources for Immunodeficiency, Common Variable, 7

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