Immunodeficiency, Common Variable, 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IMM058 MIFTS: 16	Immunodeficiency, Common Variable, 7 Categories: Genetic diseases, Immune diseases
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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614699

MedGen ⁴² C3542922 CN130275

MeSH ⁴⁴ D017074

SNOMED-CT via HPO ⁶⁹ 258211005 236071009 29260007 more

UMLS ⁷³ C3542922

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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

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Related Diseases for Immunodeficiency, Common Variable, 7

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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 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

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Drugs & Therapeutics for Immunodeficiency, Common Variable, 7

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

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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

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Anatomical Context for Immunodeficiency, Common Variable, 7

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

⁴¹

B Cells

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Publications for Immunodeficiency, Common Variable, 7

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Genes for Immunodeficiency, Common Variable, 7

Genes related to Immunodeficiency, Common Variable, 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CR2	Complement C3d Receptor 2	Protein Coding	1018.14	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders (show sections)	22035880

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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

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Expression for Immunodeficiency, Common Variable, 7

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

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Pathways for Immunodeficiency, Common Variable, 7

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GO Terms for Immunodeficiency, Common Variable, 7

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