A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report. (2020)

• Record Type: Journal Article
• Authors: Xu, Xuehua; Lu, Bingtai; Xie, Yaping; Yang, Diyuan; Lu, Gen; Fan, Huifeng
• Is Part Of: Respiratory medicine case reports. Volume 31(2020)
• Publication Date: 2020
• Subjects: Chronic granulomatous disease -- Mutation -- CYBB gene -- Burkholderia cepacia -- Aspergillus; Respiratory organs -- Diseases -- Periodicals; Chest -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory System -- Periodicals; Chest -- Diseases; Respiratory organs -- Diseases; Electronic journals; Periodicals; 616.2
• DOI: 10.1016/j.rmcr.2020.101213
• Languages: English
• ISSNs: 2213-0071

Abstract

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.1234 del G), which perhaps changed the structure and function of the related proteins.