PMID: 9159207Jan 1, 1997Paper

BTK, the tyrosine kinase affected in X-linked agammaglobulinemia

Frontiers in Bioscience : a Journal and Virtual Library
Mauno VihinenC I Edvard Smith

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 and Bmx 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 200 unique mutations have been identified and are collected in a mutation database, BTKbase. Here, we describle, the structure, function, and interactions of the affected signaling molecules in atomic detail.

Citations

Dec 15, 2000·Oncogene·Y Qiu, H J Kung
Sep 24, 2004·Immunology·Eva M Pålsson-McDermott, Luke A J O'Neill
Oct 4, 2000·The Journal of Experimental Medicine·E M SchaefferP L Schwartzberg
Jun 18, 2003·The Journal of Experimental Medicine·Nicole J HorwoodBrian M J Foxwell
Jun 2, 2006·Molecular Systems Biology·Kanae Oda, Hiroaki Kitano
Jul 18, 2018·Proceedings of the National Academy of Sciences of the United States of America·Adelajda ZorbaMatthew F Calabrese

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