TY - JOUR AU - Xu, Yuanda AU - Qing, Qi AU - Liu, Xuesong AU - Chen, Sibei AU - Chen, Ziyi AU - Niu, Xuefeng AU - Tan, Yaxia AU - He, Weiqun AU - Liu, Xiaoqing AU - Li, Yimin AU - Chen, Rongchang AU - Chen, Ling PY - 2016 TI - Bruton’s agammaglobulinemia in an adult male due to a novel mutation: a case report JF - Journal of Thoracic Disease; Vol 8, No 10 (October 01, 2016): Journal of Thoracic Disease Y2 - 2016 KW - N2 - 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. UR - https://jtd.amegroups.org/article/view/10008