Data/hora: 01/06/2024 14:39:40

Provedor de dados: 	56	
País: 	Brazil	
Título: 	Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia	
Autores: 	Ramalho,V.D.; Oliveira Júnior,E.B.; Tani,S.M.; Roxo Júnior,P.; Vilela,M.M.S.	
Data: 	2010-09-01	
Ano: 	2010	
Palavras-chave: 	X-linked agammaglobulinemia; Bruton tyrosine kinase; Genome analysis; Brazilian.	
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 &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 pattern of BTK expression was obtained from mothers, indicating that they were XLA carriers.	
Tipo: 	Info:eu-repo/semantics/other	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000900015	
Editor: 	Associação Brasileira de Divulgação Científica	
Relação: 	10.1590/S0100-879X2010007500079	
Formato: 	text/html	
Fonte: 	Brazilian Journal of Medical and Biological Research  v.43 n.9 2010	
Fonte: 	info:eu-repo/semantics/openAccess