A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report.
Respir Med Case Rep. 2020;31:101213
Authors: Xu X, Lu B, Xie Y, Yang D, Lu G, Fan H
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.
PMID: 32963958 [PubMed – as supplied by publisher]