@article{JTD10008,
author = {Yuanda Xu and Qi Qing and Xuesong Liu and Sibei Chen and Ziyi Chen and Xuefeng Niu and Yaxia Tan and Weiqun He and Xiaoqing Liu and Yimin Li and Rongchang Chen and Ling Chen},
title = {Bruton’s agammaglobulinemia in an adult male due to a novel mutation: a case report},
journal = {Journal of Thoracic Disease},
volume = {8},
number = {10},
year = {2016},
keywords = {},
abstract = {X-linked agammaglobulinemia (XLA) is caused by mutation in the gene coding for Bruton’s tyrosine kinase (BTK), which impairs peripheral B cell maturation and hypogammaglobulinemia. In this report, we present a case of XLA in a 22-year-old adult male. Genetic testing revealed a novel mutation located at the conserved region (c.383T>C). The patient had a history of recurrent respiratory tract infection which eventually progressed to chronic type II respiratory failure. Several pathogenic bacteria were isolated on culture of respiratory secretions obtained on bronchoscopy. The patient improved on treatment with antibiotics.},
issn = {2077-6624}, url = {https://jtd.amegroups.org/article/view/10008}
}