Article
Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.
Human mutation - 1 Oct 2001
Wang Y, Kanegane H, Sanal O, Ersoy F, Tezcan I, Futatani T, Tsukada S, Miyawaki T
Abstract excerpt
X-linked agammglobulinemia (XLA) is a ptototypical humoral immunodeficiency caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). The genetic defect in XLA impairs early B cell development resulting in marked reduction of mature B cells in the blood. Studies from different countries have demonstrated that approximately 90% of males with presumed XLA bear mutations in BTK. In this study, we...
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