Chronic granulomatous disease
Copyright policy )Chronic granulomatous disease
Chronic granulomatous disease is a clinical condition that stems from inactivating mutations in NOX2 and its auxiliary proteins. Together, these proteins form the phagocyte NADPH oxidase enzyme that generates superoxide. Superoxide (O2ċ-) and its reduced product hydrogen peroxide (H2O2) give rise to several additional reactive oxygen species (ROS), which together are necessary for adequate killing of pathogens. Thus, CGD patients, with a phagocyte NADPH oxidase that is not properly functioning, suffer from recurrent, life-threatening infections with certain bacteria, fungi, and yeasts. Here, I give a short survey of the genetic mutations that underlie CGD, the effect of these mutations on the activity of the leukocyte NADPH oxidase, the clinical symptoms of CGD patients, and the treatment options for these patients.
- University of Amsterdam Netherlands
- Amsterdam UMC Netherlands
- Academic Medical Center - University of Amsterdam Netherlands
- UNIVERSITEIT VAN AMSTERDAM Netherlands
- Academic Medical Center Netherlands
Phagocytes, Disease Management, NADPH Oxidases, Bacterial Infections, Genetic Therapy, Hydrogen Peroxide, Granulomatous Disease, Chronic, Combined Modality Therapy, Enzyme Activation, Phenotype, Treatment Outcome, Molecular Diagnostic Techniques, Mycoses, Mutation, Humans, Genetic Predisposition to Disease, Symptom Assessment, Reactive Oxygen Species, Biomarkers, Bone Marrow Transplantation, Protein Binding
Phagocytes, Disease Management, NADPH Oxidases, Bacterial Infections, Genetic Therapy, Hydrogen Peroxide, Granulomatous Disease, Chronic, Combined Modality Therapy, Enzyme Activation, Phenotype, Treatment Outcome, Molecular Diagnostic Techniques, Mycoses, Mutation, Humans, Genetic Predisposition to Disease, Symptom Assessment, Reactive Oxygen Species, Biomarkers, Bone Marrow Transplantation, Protein Binding
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