common variable immunodeficiency

Summary

DOID:12177 - common variable immunodeficiency

Disease Ontology Definition:An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens.

Synonyms: CVID, acquired agammaglobulinemia, acquired hypogammaglobulinemia, common variable agammaglobulinemia, sporadic hypogammaglobulinemia,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: prkcd, ms4a1, cd19, ikzf1, cd81, lrba, nfkb2, nfkb1, irf2bp2, tnfsf12

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0015517 - common variable immunodeficiency

MONDO:0015517 - common variable immunodeficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): agammaglobulinemia (is_a), autoimmune disease (is_a), autosomal recessive disease (is_a)