title: Diabetes, renal and cardiovascular disease in p47 phox-/- chronic granulomatous disease.
abstract: Chronic granulomatous disease is a rare immunodeficiency due to defects in the phagocyte NADPH oxidase. The X-linked form (gp91 (phox) deficiency) accounts for about 70 % of cases; autosomal recessive p47 (phox) deficiency accounts for about 25 % of cases. We identified a 10 % incidence of diabetes in p47 (phox) deficient CGD, but none in X-linked CGD. Renal and cardiovascular diseases were also higher in p47 (phox) deficiency. p47 (phox) deficient CGD has non-infectious morbidities distinct from those in X-linked CGD.
authors: Laboratories of Clinical Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-1684, USA.
authors: Jennifer W
authors: JW
authors: Leiding
authors: Beatriz E
authors: BE
authors: Marciano
authors: Christa S
authors: CS
authors: Zerbe
authors: Suk See
authors: SS
authors: Deravin
authors: Harry L
authors: HL
authors: Malech
authors: Steven M
authors: SM
authors: Holland
mesh_terms: D000293:Adolescent; D000328:Adult; D002318:Cardiovascular Diseases / Q000453:epidemiology* / Q000235:genetics; D015897:Comorbidity; D003920:Diabetes Mellitus / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics*; D010586:Phagocytes / Q000276:immunology / Q000378:metabolism* / Q000473:pathology; D051436:Renal Insufficiency, Chronic / Q000453:epidemiology* / Q000235:genetics; D055815:Young Adult
chemical_list: D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1
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