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

In English

Författare

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.

Publiceringsår

2000

Språk

Engelska

Sidor

917-927

Publikation/Tidskrift/Serie

Frontiers in Bioscience

Volym

5

Dokumenttyp

Artikel i tidskrift

Förlag

Frontiers in Bioscience

Ämne

  • Medical Genetics

Nyckelord

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

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1093-9946