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J Clin Immunol. 2013 May;33(4):725-30. doi: 10.1007/s10875-013-9871-8. Epub 2013 Feb 6.

Diabetes, renal and cardiovascular disease in p47 phox-/- chronic granulomatous disease.

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  • 1Laboratories of Clinical Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-1684, USA.


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.

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