X-linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease
Author
Summary, in English
X-linked agammaglobulinemia is a heritable immunodeficiency disease caused by a differentiation abnormality, resulting in the virtual absence of B lymphocytes and plasma cells, The affected gene encodes a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine kinase, designated Btk, Btk and the other family members, Tec, Itk and Bmx, contain five regions, four of which are common structural and functional modules that are found in other signaling proteins. Mutations affect all domains of the gene, but amino acid substitutions seem to be confined to certain regions, More than 150 unique mutations have been identified and are collected in a mutation database, BTKbase. Here we discuss the three-dimensional structural implications of such mutations and their putative functional role. Of special interest are mutations affecting the pleckstrin homology domain, as Btk is the only disease-associated protein so far reported to carry mutations in this particular module.
Publishing year
1996
Language
English
Pages
825-834
Publication/Series
BioEssays
Volume
18
Issue
10
Document type
Journal article review
Publisher
John Wiley & Sons Inc.
Topic
- Medical Genetics
Status
Published
ISBN/ISSN/Other
- ISSN: 0265-9247