Article
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.
Human mutation - 1 Sept 2002
Tani Sergio Massayuki, Wang Yue, Kanegane Hirokazu, Futatani Takeshi, Pinto Jorge, Vilela Maria Marluce dos Santos, Miyawaki Toshio
Abstract excerpt
Mutations in the Bruton 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 the peripheral blood. We evaluated 17 male Brazilian patients from 13 unrelated families who showed markedly reduced numbers of blood B cells and hypogammaglobulinemia. BTK gene...
Topics
- Adolescent
- Adult
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- Brazil
- Child
- DNA
- DNA Mutational Analysis
- DNA, Complementary
- Family Health
- Female
- Genetic Linkage
- Humans
- Male