Summary Literature (0)

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

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0015517 - common variable immunodeficiency

MIM:

MIM:240500 - IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2

MIM:607594 - IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1

MIM:613493 - IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3

MIM:613494 - IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4

MIM:613495 - IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

MIM:613496 - IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6

MIM:614699 - IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7

MIM:614700 - IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8

MIM:615577 - IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

MIM:615767 - IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11

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

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