Open AccessResidual NADPH Oxidase and Survival in Chronic Granulomatous Disease
Author(s) -
Douglas B. Kuhns,
W. Gregory Alvord,
Theo Heller,
Jordan J. Feld,
Kristen Pike,
Beatriz E. Marciano,
Gülbû Uzel,
Suk See De Ravin,
Debra A. Long Priel,
Benjamin P. Soule,
Kol A. Zarember,
Harry L. Malech,
Steven M. Holland,
John I. Gallin
Publication year - 2010
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa1007097
Subject(s) - chronic granulomatous disease , missense mutation , frameshift mutation , medicine , nonsense mutation , microbiology and biotechnology , mutation , pathology , immunology , gene , biology , genetics
Failure to generate phagocyte-derived superoxide and related reactive oxygen intermediates (ROIs) is the major defect in chronic granulomatous disease, causing recurrent infections and granulomatous complications. Chronic granulomatous disease is caused by missense, nonsense, frameshift, splice, or deletion mutations in the genes for p22(phox), p40(phox), p47(phox), p67(phox) (autosomal chronic granulomatous disease), or gp91(phox) (X-linked chronic granulomatous disease), which result in variable production of neutrophil-derived ROIs. We hypothesized that residual ROI production might be linked to survival in patients with chronic granulomatous disease.
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