Journal article
NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2
Abstract
OBJECTIVE: The NOX2 NADPH oxidase complex produces reactive oxygen species and plays a critical role in the killing of microbes by phagocytes. Genetic mutations in genes encoding components of the complex result in both X-linked and autosomal recessive forms of chronic granulomatous disease (CGD). Patients with CGD often develop intestinal inflammation that is histologically similar to Crohn's colitis, suggesting a common aetiology for both …
Authors
Muise AM; Xu W; Guo C-H; Walters TD; Wolters VM; Fattouh R; Lam GY; Hu P; Murchie R; Sherlock M
Journal
Gut, Vol. 61, No. 7,
Publisher
BMJ
Publication Date
July 2012
DOI
10.1136/gutjnl-2011-300078
ISSN
0017-5749
Fields of Research (FoR)
Sustainable Development Goals (SDG)
Medical Subject Headings (MeSH)
Crohn DiseaseGenotyping TechniquesGranulomatous Disease, ChronicHumansInflammatory Bowel DiseasesMutation, MissenseNADPH OxidasesPolymorphism, Single NucleotideReactive Oxygen SpeciesReverse Transcriptase Polymerase Chain ReactionSequence Analysis, DNArac GTP-Binding ProteinsRAC2 GTP-Binding Protein