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MCID: IMM032
MIFTS: 17
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Immunodeficiency, Common Variable, 5
Categories:
Genetic diseases, Immune diseases
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MalaCards integrated aliases for Immunodeficiency, Common Variable, 5:
Characteristics:OMIM:53
Inheritance:
autosomal recessive
Miscellaneous:
onset in early childhood one patient has been reported (as of july 2010) HPO:31Classifications: |
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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
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Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:613495Human phenotypes related to Immunodeficiency, Common Variable, 5:31
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MalaCards organs/tissues related to Immunodeficiency, Common Variable, 5:38
B Cells,
T Cells
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Genes related to Immunodeficiency, Common Variable, 5 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Immunodeficiency, Common Variable, 5:6
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Search
GEO
for disease gene expression data for Immunodeficiency, Common Variable, 5.
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