Chronic granulomatous disease: newly defined molecular abnormalities explain disease variability and normal phagocyte physiology.
Chronic granulomatous disease (CGD) typically presents as recurrent abscess formation beneath the skin and in the mononuclear phagocyte system. Common infecting organisms are staphylococci and enteric bacteria; Aspergillus organisms are a major threat. All CGD cases analyzed to date have revealed a defect in one of four proteins, each encoded on a separate gene. These four proteins are the major constituents of an enzyme complex that transfers electrons from NADPH to oxygen, creating microbicidal (yet tissue-toxic) oxidants. Recent research has defined the gene abnormalities in CGD and set the stage for gene therapy and pharmacologic modulation of host defense and inflammation.
Forehand
J R
JR
Southern Appalachian Center for Pulmonary Studies, Richlands, Virginia.
Johnston
R B
RB
D002648:Child; D015316:Genetic Therapy; D006105:Granulomatous Disease, Chronic / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D006801:Humans; D010586:Phagocytes / Q000502:physiology*