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X-linked agammaglobulinemia in a 10-year-old boy with a novel non-invariant splice-site mutation in Btk gene.

Blood cells, molecules & diseases - 15 Apr 2010

Maekawa Kota, Yamada Masafumi, Okura Yuka, Sato Yasumasa, Yamada Yutaka, Kawamura Nobuaki, Ariga Tadashi

Abstract excerpt

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the gene coding for Bruton's tyrosine kinase (Btk). Most XLA patients have severely reduced or absent peripheral blood B cells and serum immunoglobulins, since the expression or function of Btk, critical for the maturation of B cell lineages at pro-B and pre-B cell stages, is deficient. Early and accurate diagnosis of...

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PMID: 20122858
DOI: 10.1016/j.bcmd.2010.01.004

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Source receipt: pubmed, retrieved 7 Sept 2026.

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