Consulta: creatorFacets:"Vilela,M.M.S."
Registros recuperados: 1
Data/hora: 15/06/2024 21:04:10

Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia
Provedor de dados: 56
Autores: Ramalho,V.D.; Oliveira Júnior,E.B.; Tani,S.M.; Roxo Júnior,P.; Vilela,M.M.S.
Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood. We evaluated 5 male Brazilian patients, ranging from 3 to 10 years of age, from unrelated families, whose diagnosis was based on recurrent infections, markedly reduced levels of IgM, IgG and IgA, and circulating B cell numbers &lt;2%. BTK gene analysis was carried out using PCR-SSCP followed by sequencing. We detected three novel (Ala347fsX55, I355T, and Thr324fsX24) and two previously reported mutations (Q196X and E441X). Flow cytometry revealed a reduced expression of BTK protein in patients and a mosaic...
Tipo: Info:eu-repo/semantics/other
Palavras-chave: X-linked agammaglobulinemia; Bruton tyrosine kinase; Genome analysis; Brazilian.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000900015