Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia

Autor(es)

Ramalho, V. D. ^[1] ; Oliveira Junior, E. B. ^[1] ; Tani, S. M. ^[1] ; Roxo Junior, P. ^[2] ; Vilela, M. M. S. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Estadual Campinas, Fac Ciencias Med, Dept Pediat, Ctr Invest Pediat, BR-13083887 Campinas, SP - Brazil

^[2] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Pediat, Ribeirao Preto, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Brazilian Journal of Medical and Biological Research; v. 43, n. 9, p. 910-913, SEP 2010.
• Citações Web of Science: 3

Resumo

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. (AU)

• Processo FAPESP: 08/54220-3 - Atividade citotóxica de NK e proliferação de Linfócitos T para BCG em pacientes com Imunodeficiência Comum Variável (ICV) e Agamaglobulinemia Ligada ao X (ALX)
• Beneficiário: Maria Marluce dos Santos Vilela
• Modalidade de apoio: Auxílio à Pesquisa - Regular