De novo mutation of CYBB gene in a boy presenting as intra-abdominal infection of Burkholderia contaminans: a case report

• Ngā kaituhi matua: Qianqian Zhao (Author), Jing Yin (Author), Jijun Ma (Author), Xiaoxue Liu (Author), Jiawen Wu (Author), Chongwei Li (Author)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2022-04-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Abstract Background Chronic granulomatous disease (CGD) is an inborn error of immunity. It is characterized by recurrent bacterial or fungal infections, including infections by Burkholderia species. This is due to respiratory burst dysfunction of phagocytes. Currently, there is no report on Burkhold...