common variable immunodeficiency; Gene Set

Dataset GAD Gene-Disease Associations
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)
Similar Terms
Downloads & Tools

Genes

1 genes associated with the disease common variable immunodeficiency; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
MBL2 mannose-binding lectin (protein C) 2, soluble