Characterization of novel Bruton's tyrosine kinase gene mutations in Central European patients with agammaglobulinemia
β Scribed by Doris Kristufek; Rosa Maria Aspalter; Martha Marianne Eibl; Hermann Maximilian Wolf
- Book ID
- 116756233
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 286 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0161-5890
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Communicated by Mark H. Paalman X-linked agammglobulinemia (XLA) is a ptototypical humoral immunodeficiency caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). The genetic defect in XLA impairs early B cell development resulting in marked reduction of mature B cells in the blood
Mutations in the Bruton tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in the peripheral blood. We evaluated 17 male Brazilian patients
Mutation pattern was characterized in the Bruton's tyrosine kinase gene (BTK) in 26 patients with X-linked agammaglobulinemia, the first described immunoglobulin deficiency, and was related to BTK expression. A total of 24 different mutations were identified. Most BTK mutations were found to result
Mutations in the gene encoding Bruton tyrosine kinase (BTK) result in X-linked agammaglobulinemia (XLA), an immunodeficiency of antibody defect. By using base excision sequence scanning method (BESS) followed by direct sequencing we found in seven unrelated families with a classical XLA phenotype va
## Communicated by David Ginsburg Bruton's tyrosine kinase (Btk) has been identified as the protein responsible for the primary immunodeficiency X-linked agammaglobulinemia (XLA) and has been described as a new member of Srcrelated cytoplasmic protein tyrosine kinases. We have recently characteriz