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 57 75 13 73
Antibody Deficiency Due to Cd20 Defect 57 75
Common Variable Immunodeficiency 5 29 6
Cvid5 57 75
Immunodeficiency, Variable, Common, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency, common variable, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613495
MedGen 42 C3150740
MeSH 44 D017074
UMLS 73 C3150740

Summaries for Immunodeficiency, Common Variable, 5

UniProtKB/Swiss-Prot : 75 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 recurrent bacterial infections

Description from OMIM: 613495

Related Diseases for Immunodeficiency, Common Variable, 5

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 5

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 recurrent bacterial infections 32 HP:0002718
3 immunodeficiency 32 HP:0002721
4 decreased antibody level in blood 32 HP:0004313

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 29 MS4A1

Anatomical Context for Immunodeficiency, Common Variable, 5

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

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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