Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/198997
Type: Artigo de periódico
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: Agammaglobulinemia
Child
Child, Preschool
Flow Cytometry
Genetic Diseases, X-linked
Humans
Male
Mutation
Polymerase Chain Reaction
Polymorphism, Single-stranded Conformational
Protein-tyrosine Kinases
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/20721470
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

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