common variable immunodeficiency Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). (Human Disease Ontology, DOID_12177)
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Genes

10 genes involed in the disease common variable immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
CD19 CD19 molecule
CD81 CD81 molecule
CR2 complement component (3d/Epstein Barr virus) receptor 2
ICOS inducible T-cell co-stimulator
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
PRKCD protein kinase C, delta
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C