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
Article
in English
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Protein-Tyrosine Kinases
/
Agammaglobulinemia
/
Genetic Diseases, X-Linked
/
Mutation
Limits:
Child
/
Child, preschool
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2010
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Estadual de Campinas/BR
/
Universidade de São Paulo/BR
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