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Type: Artigo
Title: Mutations of bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia
Author: Ramalho, V.D.
Oliveira Júnior, E.B.
Tani, S.M.
Roxo Júnior, P.
Vilela, M.M.S.
Abstract: 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 <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 pattern of BTK expression was obtained from mothers, indicating that they were XLA carriers
Subject: Proteínas tirosina quinases
Country: Brasil
Editor: Associação Brasileira de Divulgação Científica
Rights: Aberto
Identifier DOI: 10.1590/S0100-879X2010007500079
Date Issue: 2010
Appears in Collections:FCM - Artigos e Outros Documentos

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