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

Vihinen, Mauno LU orcid ; Mattsson, PT and Smith, CIE (2000) In Frontiers in Bioscience 5. p.917-927
Abstract
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.
Please use this url to cite or link to this publication:
author
; and
publishing date
type
Contribution to journal
publication status
published
subject
keywords
human, B-cells, Btk, Bruton's tyrosine kinase, signal transduction, XLA, X-linked agammaglobulinemia, review
in
Frontiers in Bioscience
volume
5
pages
917 - 927
publisher
Frontiers in Bioscience
external identifiers
  • wos:000166736900002
  • scopus:0034546665
ISSN
1093-9946
DOI
10.2741/vihinen
language
English
LU publication?
no
id
58345312-8564-47f5-b9c8-892cc9672534 (old id 3851896)
date added to LUP
2016-04-01 11:56:45
date last changed
2025-10-14 10:45:20
@article{58345312-8564-47f5-b9c8-892cc9672534,
  abstract     = {{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.}},
  author       = {{Vihinen, Mauno and Mattsson, PT and Smith, CIE}},
  issn         = {{1093-9946}},
  keywords     = {{human; B-cells; Btk; Bruton's tyrosine kinase; signal transduction; XLA; X-linked agammaglobulinemia; review}},
  language     = {{eng}},
  pages        = {{917--927}},
  publisher    = {{Frontiers in Bioscience}},
  series       = {{Frontiers in Bioscience}},
  title        = {{Bruton tyrosine kinase (Btk) in X-linked agammaglobulinemia (XLA)}},
  url          = {{http://dx.doi.org/10.2741/vihinen}},
  doi          = {{10.2741/vihinen}},
  volume       = {{5}},
  year         = {{2000}},
}