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Bruton tyrosine kinase (Btk) in X-linked agammaglobulinemia (XLA)

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Author

Summary, in English

X-linked agammaglobulinemia (XLA) is a heritable immunodeficiency disorder that is caused by a differentiation block leading to almost complete absence of B lymphocytes and plasma cells. The affected protein is a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine kinase (Btk). Btk along with Tec, Itk, Bmx and Txk belong to a distinct family of protein kinases. These proteins contain five regions; PH, TH, SH3, SH2 and kinase domains. Mutations causing XLA may affect any of these domains. About 380 unique mutations have been identified and are collected in a mutation database, BTKbase. Here, we describe the structure, function, and interactions of the affected signaling molecules in atomic detail.

Publishing year

2000

Language

English

Pages

917-927

Publication/Series

Frontiers in Bioscience

Volume

5

Document type

Journal article review

Publisher

Frontiers in Bioscience

Topic

  • Medical Genetics

Keywords

  • human
  • B-cells
  • Btk
  • Bruton's tyrosine kinase
  • signal transduction
  • XLA
  • X-linked agammaglobulinemia
  • review

Status

Published

ISBN/ISSN/Other

  • ISSN: 1093-9946