Ontology highlight
ABSTRACT:
SUBMITTER: Wrona D
PROVIDER: S-EPMC6395829 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Wrona Dominik D Siler Ulrich U Reichenbach Janine J
Molecular therapy. Methods & clinical development 20190210
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations of the phagocytic nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. Autosomal recessive p47 <sup><i>phox</i></sup> -deficient CGD (p47 <sup><i>phox</i></sup> CGD) is the second most frequent form of the disease in western countries, and more than 94% of patients have a disease-causing dinucleotide deletion (ΔGT) in the neutrophil cytosolic factor 1 (<i>NCF1</i>) gene. The ΔGT mutation is most likely ...[more]