BTKbase: X-linked agammaglobulinemia (XLA)

Version 8.5 last updated 21 August, 2008 contains 1155 public entries


Curated:	Mauno Vihinen and C. I. Edvard Smith
Maintained by:	Jouni Väliaho
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Short description of the BTKbase :

Defects in the Bruton tyrosine kinase (BTK) gene cause agammaglobulinemia. Agammaglobulinemia is characterized by failure to produce mature B lymphocyte cells and is associated with a failure of Ig heavy chain rearrangement. Two thirds of cases are familial, and one third of cases are believed to arise from new mutations. Mutations of the BTK gene are found in approximately 80% of patients with agammaglobulinemia.

Other IMT services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: BTKbase