A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report

Xuehua Xu; Bingtai Lu; Yaping Xie; Diyuan Yang; Gen Lu; Huifeng Fan

doi:10.1016/j.rmcr.2020.101213

A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report

Respir Med Case Rep. 2020 Sep 2:31:101213. doi: 10.1016/j.rmcr.2020.101213. eCollection 2020.

Authors

Xuehua Xu¹, Bingtai Lu², Yaping Xie¹, Diyuan Yang¹, Gen Lu¹, Huifeng Fan¹

Affiliations

¹ Department of Respiration, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, Guangdong, China.
² Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, Guangdong, China.

Abstract

Chronic granulomatous disease (CGD) is caused by gene mutations that affect the phagocyte NADPH oxidase. This results in recurrent infections by catalase-positive bacteria or fungi. Here, we report a case of X-linked CGD presenting a mixed infection with Burkholderia cepacia and Aspergillus. A novel mutation was found by bioinformatics analyses of his genealogy (c.1234delG), which perhaps changed the structure and function of the related proteins.

Keywords: Aspergillus; Burkholderia cepacia; CYBB gene; Chronic granulomatous disease; Mutation.

Publication types

Case Reports