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
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia
β Scribed by Maurilia Fiorini; Roberta Franceschini; Annarosa Soresina; Richard-Fabian Schumacher; Alberto G. Ugazio; Paolo Rossi; Alessandro Plebani; Luigi D. Notarangelo
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 60 KB
- Volume
- 23
- Category
- Article
- ISSN
- 1059-7794
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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
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 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
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