Photo from wikipedia
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… Click to show full 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:
granulomatous disease;
chronic granulomatous;
novel mutation;
case;
report
Journal Title: Respiratory Medicine Case Reports
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Respiratory Medicine Case Reports
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!