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CVID14
MCID: IMM189
MIFTS: 13
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Immunodeficiency, Common Variable, 14 (CVID14)
Categories:
Genetic diseases, Immune diseases
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MalaCards integrated aliases for Immunodeficiency, Common Variable, 14:Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset in early childhood can be managed with immunoglobulin (ig) therapy one family has been reported (last curated november 2017) Classifications: |
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UniProtKB/Swiss-Prot
:
75
Immunodeficiency, common variable, 14: A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant.
MalaCards based summary : Immunodeficiency, Common Variable, 14, is also known as cvid14. An important gene associated with Immunodeficiency, Common Variable, 14 is IRF2BP2 (Interferon Regulatory Factor 2 Binding Protein 2). Affiliated tissues include b cells, and related phenotypes are immunodeficiency and decreased antibody level in blood
Description from OMIM:
617765
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617765Human phenotypes related to Immunodeficiency, Common Variable, 14:32
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MalaCards organs/tissues related to Immunodeficiency, Common Variable, 14:41
B Cells
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Genes related to Immunodeficiency, Common Variable, 14 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency, Common Variable, 14:75
ClinVar genetic disease variations for Immunodeficiency, Common Variable, 14:6
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Search
GEO
for disease gene expression data for Immunodeficiency, Common Variable, 14.
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