title: Bruton's agammaglobulinemia in an adult male due to a novel mutation: a case report.
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.
authors.affiliation: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
authors.forename: Yuanda
authors.initials: Y
authors.lastname: Xu
authors.affiliation: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Qing
authors.affiliation: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
authors.forename: Xuesong
authors.initials: X
authors.lastname: Liu
authors.affiliation: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
authors.forename: Sibei
authors.initials: S
authors.lastname: Chen
authors.affiliation: Guangzhou Institute of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.
authors.forename: Ziyi
authors.initials: Z
authors.lastname: Chen
authors.affiliation: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
authors.forename: Xuefeng
authors.initials: X
authors.lastname: Niu
authors.affiliation: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
authors.forename: Yaxia
authors.initials: Y
authors.lastname: Tan
authors.affiliation: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
authors.forename: Weiqun
authors.initials: W
authors.lastname: He
authors.affiliation: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
authors.forename: Xiaoqing
authors.initials: X
authors.lastname: Liu
authors.affiliation: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
authors.forename: Yimin
authors.initials: Y
authors.lastname: Li
authors.affiliation: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
authors.forename: Rongchang
authors.initials: R
authors.lastname: Chen
authors.affiliation: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China; ; Guangzhou Institute of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Chen
keywords: X-linked agammaglobulinemia (XLA); novel mutation