Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia
Braz. j. med. biol. res
;
43(9): 910-913, Sept. 2010. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-556859
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 percent. 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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Proteínas Tirosina Quinases
/
Agamaglobulinemia
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Mutação
Limite:
Criança
/
Criança, pré-escolar
/
Humanos
/
Masculino
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
2010
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade Estadual de Campinas/BR
/
Universidade de São Paulo/BR
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