CVID5
MCID: IMM032
MIFTS: 17

Immunodeficiency, Common Variable, 5 (CVID5)

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 58 76 13 74
Antibody Deficiency Due to Cd20 Defect 58 76
Common Variable Immunodeficiency 5 30 6
Cvid5 58 76
Immunodeficiency, Variable, Common, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
immunodeficiency, common variable, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613495
MeSH 45 D017074
MedGen 43 C3150740
UMLS 74 C3150740

Summaries for Immunodeficiency, Common Variable, 5

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Immunodeficiency, Common Variable, 5 is MS4A1 (Membrane Spanning 4-Domains A1). Affiliated tissues include b cells and t cells, and related phenotypes are recurrent respiratory infections and immunodeficiency

Description from OMIM: 613495

Related Diseases for Immunodeficiency, Common Variable, 5

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 5

Human phenotypes related to Immunodeficiency, Common Variable, 5:

33
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 33 HP:0002205
2 immunodeficiency 33 HP:0002721
3 decreased antibody level in blood 33 HP:0004313
4 recurrent bacterial infections 33 HP:0002718

Symptoms via clinical synopsis from OMIM:

58
Immunology:
recurrent bacterial infections
normal numbers of b cells
normal numbers of t cells
reduced numbers of memory b cells
b cells lack surface cd20 expression
more
Laboratory Abnormalities:
hypogammaglobulinemia
low serum igg and iga
low or normal serum igm

Respiratory:
respiratory infections, recurrent

Clinical features from OMIM:

613495

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 30 MS4A1

Anatomical Context for Immunodeficiency, Common Variable, 5

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

42
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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