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

• Glavni autori: Qianqian Zhao (Autor), Jing Yin (Autor), Jijun Ma (Autor), Xiaoxue Liu (Autor), Jiawen Wu (Autor), Chongwei Li (Autor)
• Format: Knjiga
• Izdano: BMC, 2022-04-01T00:00:00Z.
• Teme: article
• Online pristup: 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...