title: Genetic defects in common variable immunodeficiency.
abstract: Common variable immunodeficiency (CVID) is the most frequent clinically manifested primary immunodeficiency. According to clinical and laboratory findings, CVID is a heterogeneous group of diseases. Recently, the defects of molecules regulating activation and terminal differentiation of B lymphocytes have been described in some patients with CVID. In this study, we show the overview of deficiencies of inducible costimulator, transmembrane activator and calcium-modulator and cytophilin ligand interactor, CD19 molecules, their genetic basis, pathogenesis and clinical manifestations.
authors.affiliation: Second Department of Internal Medicine, Charles University in Prague, Faculty of Medicine, University Hospital, 500 05 Hradec Králové, Czech Republic. kopecky.otakar@fhnk.cz
authors.forename: O
authors.initials: O
authors.lastname: Kopecký
authors.forename: S
authors.initials: S
authors.lastname: Lukesová
mesh_terms: D000818:Animals; D017074:Common Variable Immunodeficiency / Q000235:genetics* / Q000276:immunology* / Q000473:pathology; D006801:Humans