Yuanda Xu: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
Qi Qing: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
Xuesong Liu: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
Sibei Chen: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
Ziyi Chen: Guangzhou Institute of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.
Xuefeng Niu: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
Yaxia Tan: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
Weiqun He: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
Xiaoqing Liu: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
Yimin Li: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
Rongchang Chen: State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.
Ling Chen: 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.
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.
