Article
Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia.
American journal of medical genetics - 1 Apr 2002
Wang Yue, Kanegane Hirokazu, Sanal Ozden, Tezcan Ilhan, Ersoy Fügen, Futatani Takeshi, Miyawaki Toshio
Abstract excerpt
Mutations that impair early B cell development result in profound antibody deficiency, which is characterized by a paucity of mature B cells and the early onset of recurrent pyogenic infections. Among these inherited early B cell defects, X-linked agammaglobulinemia (XLA) with mutations in Bruton's tyrosine kinase (BTK) gene is mostly identified. Recent studies have shown that mutations in the gene for mu heavy...
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