Immunodeficiency, Common Variable, 8, with Autoimmunity - CISMeF
Immunodeficiency, Common Variable, 8, with AutoimmunityNCIt concept
Preferred Label : Immunodeficiency, Common Variable, 8, with Autoimmunity;
NCIt synonyms : CVID8;
NCIt related terms : LRBA Deficiency;
NCIt definition : An autosomal recessive common variable immunodeficiency caused by mutation(s) in the
LRBA gene, encoding lipopolysaccharide-responsive and beige-like anchor protein. It
is characterized by recurrent infections and the development of autoimmune disorders.;