Chronic granulomatous disease.
Chronic granulomatous disease (CGD) encompasses a group of rare inherited disorders characterized by defects in a phagocyte-specific NADPH-oxidase complex that forms the superoxide radical during the respiratory burst. In this chapter, the protein components and cellular biochemistry of the oxidase are reviewed in light of recent genetic and biochemical studies of CGD. The classification and molecular genetic analysis of CGD is discussed. Finally, the use of recombinant human interferon-gamma as a new therapeutic agent for management of the disorder is reviewed.
Dinauer
M C
MC
Division of Hematology/Oncology, Children's Hospital, Dana Farber Cancer Institute, Boston, Massachusetts.
Orkin
S H
SH
D005609:Free Radicals; D006105:Granulomatous Disease, Chronic / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D006801:Humans; D007371:Interferon-gamma / Q000627:therapeutic use; D008264:Macrophages / Q000276:immunology; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics / Q000502:physiology; D019255:NADPH Oxidases; D009504:Neutrophils / Q000276:immunology; D010587:Phagocytosis / Q000276:immunology; D016897:Respiratory Burst / Q000235:genetics / Q000502:physiology; D013481:Superoxides / Q000378:metabolism
D005609:Free Radicals; D013481:Superoxides; D007371:Interferon-gamma; D009247:NADH, NADPH Oxidoreductases; D019255:NADPH Oxidases; C022709:superoxide-forming enzyme