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

Vihinen, Mauno LU ; 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.
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author
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
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
2013-06-28 15:27:45
date last changed
2017-03-05 03:29:45
@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},
  keyword      = {human,B-cells,Btk,Bruton's tyrosine kinase,signal transduction,XLA,X-linked agammaglobulinemia,review},
  language     = {eng},
  pages        = {917--927},
  publisher    = {Frontiers},
  series       = {Frontiers in Bioscience},
  title        = {Bruton tyrosine kinase (Btk) in X-linked agammaglobulinemia (XLA)},
  url          = {http://dx.doi.org/10.2741/vihinen},
  volume       = {5},
  year         = {2000},
}