Mutations Of Bruton's Tyrosine Kinase Gene In Brazilian Patients With X-linked Agammaglobulinemia.

dc.creatorRamalho, V D
dc.creatorOliveira Júnior, E B
dc.creatorTani, S M
dc.creatorRoxo Júnior, P
dc.creatorVilela, M M S
dc.date2010-Sep
dc.date2015-11-27T13:18:09Z
dc.date2015-11-27T13:18:09Z
dc.date.accessioned2018-03-29T01:11:27Z
dc.date.available2018-03-29T01:11:27Z
dc.identifierBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]. v. 43, n. 9, p. 910-3, 2010-Sep.
dc.identifier1414-431X
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/20721470
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/198997
dc.identifier20721470
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1299230
dc.descriptionMutations 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.
dc.description43
dc.description910-3
dc.languageeng
dc.relationBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]
dc.relationBraz. J. Med. Biol. Res.
dc.rightsaberto
dc.rights
dc.sourcePubMed
dc.subjectAgammaglobulinemia
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFlow Cytometry
dc.subjectGenetic Diseases, X-linked
dc.subjectHumans
dc.subjectMale
dc.subjectMutation
dc.subjectPolymerase Chain Reaction
dc.subjectPolymorphism, Single-stranded Conformational
dc.subjectProtein-tyrosine Kinases
dc.titleMutations Of Bruton's Tyrosine Kinase Gene In Brazilian Patients With X-linked Agammaglobulinemia.
dc.typeArtículos de revistas


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