title: Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia.
abstract: X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency in which affected patients have very low levels of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Mutations in the gene encoding for Bruton's tyrosine kinase (Btk) are responsible for most of the agammaglobulinemia. In this work, 14 Btk mutations responsible of causing XLA are described; eight of which are novel and six are mutations previously reported. Seven of the mutations were due to deletions and insertions of exons and introns, respectively, which suggest splicing defects. The others were missense mutations, five of which affect arginine residues and have been described, and two new which affect leucine and glutamine residues (L111P and E605G). Most of these mutations were located at the kinase domain of Btk and, less frequently, they were found in PH and SH2 domains. Protein expression was also affected since most of the patients did not express or express very low Btk.
authors.affiliation: Departamento de Biomedicina Molecular, Centro de Investigacion y de Estudios Avanzados-IPN, Av. Instituto Politécnico Nacional 2508, Colonia Zacatenco, 07360 Mexico, D.F., Mexico.
authors.forename: G
authors.initials: G
authors.lastname: Lopez-Herrera
authors.forename: L
authors.initials: L
authors.lastname: Berron-Ruiz
authors.forename: D
authors.initials: D
authors.lastname: Mogica-Martinez
authors.forename: F
authors.initials: F
authors.lastname: Espinosa-Rosales
authors.forename: L
authors.initials: L
authors.lastname: Santos-Argumedo
mesh_terms: D000293:Adolescent; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008800:Mexico; D009154:Mutation; D011505:Protein-Tyrosine Kinases / Q000097:blood / Q000235:genetics*
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human