SESSION TITLE: Genetic Disorders
SESSION TYPE: Original Investigation Poster
PRESENTED ON: Saturday, April 16, 2016 at 11:45 AM - 12:45 PM
PURPOSE: X-linked agammaglobulinemia (XLA) is a rare inherited disease characterized by an arrest of B cell differentiation, leading to recurrent bacterial infections. Mutation of Bruton's tyrosine kinase (BTK) gene has been identified as a cause of XLA. This study aimed to explore the role of genetic factors in the XLA by pedigree genetic analysis, providing meaningful BTK gene mutation for the mechanism of XLA in Chinese population.