Article
BTKbase: the mutation database for X-linked agammaglobulinemia.
Human mutation - 1 Dec 2006
Väliaho Jouni, Smith C I Edvard, Vihinen Mauno
Abstract excerpt
X-linked agammaglobulinemia (XLA) is a hereditary immunodeficiency caused by mutations in the gene encoding Bruton tyrosine kinase (BTK). XLA patients have a decreased number of mature B cells and a lack of all immunoglobulin isotypes, resulting in susceptibility to severe bacterial infections. XLA-causing mutations are collected in a mutation database (BTKbase), which is available at...
Topics
- Agammaglobulinemia
- Amino Acid Sequence
- Databases, Genetic
- Genetic Diseases, X-Linked
- Humans
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Structure-Activity Relationship