title: Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia.
abstract: Mutations that impair early B cell development result in profound antibody deficiency, which is characterized by a paucity of mature B cells and the early onset of recurrent pyogenic infections. Among these inherited early B cell defects, X-linked agammaglobulinemia (XLA) with mutations in Bruton's tyrosine kinase (BTK) gene is mostly identified. Recent studies have shown that mutations in the gene for mu heavy chain (IGHM) and for other components of the pre-B cell receptor complex, including lambda5/14.1 (IGLL1) or Igalpha (CD79a), can cause a disorder that is clinically similar to XLA. In a genetic survey of XLA in Turkey, we examined possible mutations in the IGHM, IGLL1, and Igalpha genes in some male patients with presumed XLA who did not have identifiable BTK mutations. We found an eight-year-old boy with a novel homozygous mutation in the Igalpha gene (IVS2+1G>A) causing B cell defect. This is the second case of agammaglobulinemia due to an Igalpha (CD79a) deficiency in the world.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan.
authors.forename: Yue
authors.initials: Y
authors.lastname: Wang
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Ozden
authors.initials: O
authors.lastname: Sanal
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
authors.forename: Fügen
authors.initials: F
authors.lastname: Ersoy
authors.forename: Takeshi
authors.initials: T
authors.lastname: Futatani
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics* / Q000276:immunology; D015703:Antigens, CD / Q000235:genetics*; D001402:B-Lymphocytes / Q000276:immunology; D001483:Base Sequence; D051925:CD79 Antigens; D002648:Child; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011947:Receptors, Antigen, B-Cell / Q000235:genetics*; D014421:Turkey
chemical_list: D015703:Antigens, CD; D051925:CD79 Antigens; C497881:CD79A protein, human; D011947:Receptors, Antigen, B-Cell; D004247:DNA