Bruton tyrosine kinase (Btk) in X-linked agammaglobulinemia (XLA)
(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:
https://lup.lub.lu.se/record/3851896
- author
- Vihinen, Mauno LU ; Mattsson, PT and Smith, CIE
- publishing date
- 2000
- 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
- 2022-03-13 02:55:53
@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}}, }