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Clinical, Immunological and Genetic Spectrum Of Novel BTK Gene Mutations In X-Linked Agammaglobulinemia Patients and Female Carriers
β Scribed by Pyle, Regan; Hagan, John B.; Martinez, Amanda; Joshi, Avni Y.; Boyce, Thomas; Volcheck, Gerald W.; Yilmaz-Demirdag, Yesim; Bahna, Sami L.; Abraham, Roshini S.
- Book ID
- 122299984
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 44 KB
- Volume
- 133
- Category
- Article
- ISSN
- 1097-6825
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π SIMILAR VOLUMES
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
## X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase ) of BTK mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. Twenty Australian patients with an XLA phenotype, from 15 unrelated families, were found to have 14 mutations. Five of the mutations were previously described c.83G>A (p.R28H), c.86