title: [Common variable immunodeficiency: an update on etiology, pathophysiology, and classification].
abstract: Common variable immunodeficiency is one of the most common primary immunodeficiency that is categorized into primary antibody deficiency. The responsible genes identified so far include ICOS, TACI, CD19, CD20, CD21, CD81 and BAFF-R; and most of the CVID-causing genes are yet to be identified. TACI mutation is the most common one; however the direct contribution of TACI mutation to pathogenesis of CVID is not yet clear. One third to a half of the patients with CVID shows autoimmunity as well as malignancy in their course. It is of importance to develop diagnostic measure, to identify the disease causing genes, and to develop the optimal therapy.
authors.affiliation: Department of Developmental Biology and Pediatrics, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
mesh_terms: D001327:Autoimmune Diseases / Q000150:complications / Q000276:immunology; D017074:Common Variable Immunodeficiency / Q000145:classification / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D006801:Humans