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Genetic and Developmental Disorders: Genetic Disorders |

Genetic Analysis of Familial X-Linked Agammaglobulinemia

Wei Guan; Duchao Zhang; Peng Yan; Kun Xiao; Hongjun Gu; Lixin Xie
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Chinese PLA General Hospital, Beijing, China


Copyright 2016, American College of Chest Physicians. All Rights Reserved.


Chest. 2016;149(4_S):A250. doi:10.1016/j.chest.2016.02.260
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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.

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