MCID: IMM032
MIFTS: 17

Immunodeficiency, Common Variable, 5

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 5

MalaCards integrated aliases for Immunodeficiency, Common Variable, 5:

Name: Immunodeficiency, Common Variable, 5 53 71 13 69
Antibody Deficiency Due to Cd20 Defect 53 71
Cvid5 53 71
Common Variable Immunodeficiency 5 28

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
one patient has been reported (as of july 2010)


HPO:

31
immunodeficiency, common variable, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613495
MedGen 39 C3150740
MeSH 41 D017074
UMLS 69 C3150740

Summaries for Immunodeficiency, Common Variable, 5

UniProtKB/Swiss-Prot : 71 Immunodeficiency, common variable, 5: 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, 5, is also known as antibody deficiency due to cd20 defect, and has symptoms including recurrent respiratory infections, immunodeficiency and decreased antibody level in blood. An important gene associated with Immunodeficiency, Common Variable, 5 is MS4A1 (Membrane Spanning 4-Domains A1). Affiliated tissues include b cells and t cells.

Description from OMIM: 613495

Related Diseases for Immunodeficiency, Common Variable, 5

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 5

Symptoms via clinical synopsis from OMIM:

53
Respiratory:
respiratory infections, recurrent

Laboratory Abnormalities:
hypogammaglobulinemia
low serum igg and iga
low or normal serum igm

Immunology:
recurrent bacterial infections
normal numbers of b cells
reduced numbers of memory b cells
b cells lack surface cd20 expression
normal numbers of t cells
more

Clinical features from OMIM:

613495

Human phenotypes related to Immunodeficiency, Common Variable, 5:

31
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 immunodeficiency 31 HP:0002721
3 decreased antibody level in blood 31 HP:0004313
4 recurrent bacterial infections 31 HP:0002718

Drugs & Therapeutics for Immunodeficiency, Common Variable, 5

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 5

Genetic Tests for Immunodeficiency, Common Variable, 5

Genetic tests related to Immunodeficiency, Common Variable, 5:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 5 28 MS4A1

Anatomical Context for Immunodeficiency, Common Variable, 5

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 5:

38
B Cells, T Cells

Publications for Immunodeficiency, Common Variable, 5

Variations for Immunodeficiency, Common Variable, 5

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MS4A1 MS4A1, IVS5DS, 11-BP INS AND 2-BP DEL indel Pathogenic

Expression for Immunodeficiency, Common Variable, 5

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 5.

Pathways for Immunodeficiency, Common Variable, 5

GO Terms for Immunodeficiency, Common Variable, 5

Sources for Immunodeficiency, Common Variable, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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