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MCID: IMM030
MIFTS: 18
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Immunodeficiency, Common Variable, 3
Categories:
Genetic diseases, Immune diseases
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MalaCards integrated aliases for Immunodeficiency, Common Variable, 3:
Characteristics:HPO:32Classifications: |
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UniProtKB/Swiss-Prot
:
75
Immunodeficiency, common variable, 3: 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, 3, is also known as antibody deficiency due to cd19 defect. An important gene associated with Immunodeficiency, Common Variable, 3 is CD19 (CD19 Molecule). Affiliated tissues include b cells and t cells, and related phenotypes are immunodeficiency and recurrent otitis media
Description from OMIM:
613493
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613493Human phenotypes related to Immunodeficiency, Common Variable, 3:32 (show all 6)
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MalaCards organs/tissues related to Immunodeficiency, Common Variable, 3:41
B Cells,
T Cells
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Genes related to Immunodeficiency, Common Variable, 3 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Immunodeficiency, Common Variable, 3:6
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Search
GEO
for disease gene expression data for Immunodeficiency, Common Variable, 3.
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