Clinical features and mutation analysis of X-linked agammaglobulinemia in 20 Chinese patients

Xian Qin, Li-Ping Jiang, Xue-Mei Tang, Mo Wang, En-Mei Liu, Xiao-Dong Zhao
2013 World Journal of Pediatrics  
X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton's tyrosine kinase (BTK) gene mutation. XLA patients have an extremely small amount of peripheral B cells and profound deficiency in all immunoglobulin isotypes. We analyzed the clinical, immunologic, and molecular characteristics of children with XLA in an attempt to improve the diagnosis and treatment of XLA in China. Methods: Twenty children with XLA-compatible phenotypes from 18 unrelated families were enrolled
more » ... ies were enrolled in this study. The BTK gene was amplifi ed and sequenced, followed by mutation analysis in these children and their female relatives. Results: Eighteen different mutations of the BTK gene were identifi ed in the 20 patients. Eleven mutations had been reported previously including eight missense mutations (c.
doi:10.1007/s12519-013-0400-x pmid:23335184 fatcat:wvuyrs4tu5dbzar5ulnl3yicoy