Bruton agammaglobulinemia tyrosine kinase: A genetic type of immunodeficiency characterized by failure to produce mature B lymphocytes and gamma globulin, due to mutation (change) in the agammaglobulinemia tyrosine kinase gene situated on the X chromosome (in the region Xq21.3-q22). The disorder is inherited as an X-linked recessive trait.
Patients are males with absent or minimal lymphoid tissue (for example, with little or no tonsils and adenoids) who are particularly prone to bacterial but not viral infections. Although patients have recurrent bacterial infections, they generally have a normal response to viral infection, because cell-mediated immunity is intact.
A notable exception is the usually fatal echovirus-induced meningoencephalitis often associated with a "dermatomyositis-like" syndrome. A clinical picture resembling rheumatoid arthritis develops in many patients.
Before the advent of antibiotics, death usually occurred in the first decade. Treatment today is with regular IV gamma globulin and prophylactic and therapeutic antibiotics. The prognosis is now markedly improved.
G Protein beta gamma subunits act on the catalytic domain to stimulate Bruton's agammaglobulinemia tyrosine kinase. J Biol Chem. Jan 11 2002;277(2):1488-92.
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Bruton agammaglobulinemia tyrosine kinase. Scientific background: Summary: The protein encoded by this gene plays a crucial role in B-cell development.
What is the official name of the BTK gene? The official name of this gene is â€œBruton agammaglobulinemia tyrosine kinase.â€ BTK is the gene's official symbol.
A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male.