IMR Press / FBL / Volume 5 / Issue 3 / DOI: 10.2741/vihinen

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.

Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA)
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1 Institute of Medical Technology, FIN-33014 University of Tampere, Finland
2 Tampere University Hospital, FIN-20520 Tampere, Finland
3 Department of Bioscience at Novum, Karolinska Institute, S-14157 Huddinge and Department of Immunology, Microbiology, Pathology and Infectious Diseases (IMPI) and Clinical Research Centre, Karolinska Institute, Huddinge University Hospital, S-141 86 Huddinge, Sweden
4 Department of Biochemistry and Food Chemistry, University of Turku, Vatselankatu 2, Arcanum, FIN-20014 Turku, Finland
Front. Biosci. (Landmark Ed) 2000, 5(3), 917–928;
Published: 1 December 2000

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.

Bruton's tyrosine kinase
signal transduction
X-linked agammaglobulinemia
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