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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
Ramalho, V. D. [1] ; Oliveira Junior, E. B. [1] ; Tani, S. M. [1] ; Roxo Junior, P. [2] ; Vilela, M. M. S. [1]
Total Authors: 5
Affiliation:
[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
Total Affiliations: 2
Document type: Journal article
Source: Brazilian Journal of Medical and Biological Research; v. 43, n. 9, p. 910-913, SEP 2010.
Web of Science Citations: 3
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. (AU)