Communicated by
Mutations in Btk in Patients with Presumed X-Linked Agammaglobulinemia
β Scribed by Mary Ellen Conley; Derrick Mathias; Jason Treadaway; Yoshiyuki Minegishi; Jurg Rohrer
- Book ID
- 117852385
- Publisher
- American Society of Human Genetics
- Year
- 1998
- Tongue
- English
- Weight
- 463 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/301828
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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