title: Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome.
abstract: Common Variable Immuno-Deficiency (CVID) is the most common symptomatic primary antibody-deficiency syndrome, but the basic immunologic defects underlying this syndrome are not well defined. We report here that among eight patients studied (six CVID and two hypogammaglobulinemic patients with recurrent infections), there is in two CVID patients a dramatic reduction in Ig V gene somatic hypermutation with 40-75% of IgG transcripts totally devoid of mutations in the circulating memory B cell compartment. Functional assays of the T cell compartment point to an intrinsic B cell defect in the process of antibody affinity maturation in these two cases.
authors.affiliation: Unité d'immunologie clinique, Hôpital Henri Mondor, 51, avenue du Maréchal de Lattre de Tassigny, 94010 Créteil Cedex 10, France. yves.levy@hmn.hop-ap-paris.fr
authors.forename: Y
authors.initials: Y
authors.lastname: Levy
authors.forename: N
authors.initials: N
authors.lastname: Gupta
authors.forename: F
authors.initials: F
authors.lastname: Le Deist
authors.forename: C
authors.initials: C
authors.lastname: Garcia
authors.forename: A
authors.initials: A
authors.lastname: Fischer
authors.forename: J C
authors.initials: JC
authors.lastname: Weill
authors.forename: C A
authors.initials: CA
authors.lastname: Reynaud
mesh_terms: D000328:Adult; D000361:Agammaglobulinemia / Q000235:genetics / Q000276:immunology; D017668:Age of Onset; D015703:Antigens, CD / Q000032:analysis; D018941:Antigens, CD19 / Q000032:analysis; D001402:B-Lymphocytes / Q000276:immunology*; D001483:Base Sequence; D002051:Burkitt Lymphoma / Q000235:genetics / Q000276:immunology; D002648:Child; D003001:Cloning, Molecular; D017074:Common Variable Immunodeficiency / Q000235:genetics* / Q000276:immunology; D005434:Flow Cytometry; D005803:Genes, Immunoglobulin; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007075:Immunoglobulin M / Q000097:blood; D007135:Immunoglobulin Variable Region / Q000235:genetics*; D007438:Introns; D008875:Middle Aged; D008969:Molecular Sequence Data; D016296:Mutagenesis; D017354:Point Mutation; D012016:Reference Values; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D015703:Antigens, CD; D018941:Antigens, CD19; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D007135:Immunoglobulin Variable Region