Clinical manifestations of disease in X-linked carriers of chronic granulomatous disease.
Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency due to a defect in one of the NADPH oxidase complex subunits; 70 % of cases are X-linked, due to a CYBB mutation, resulting in defective production of gp91PHOX. Female carriers of X-linked CGD have previously been considered to be unaffected. It is increasingly recognized that they may suffer from similar problems to CGD patients. This review will examine the literature about clinical manifestations of disease in X-linked carriers of CGD.
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Battersby
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Cale
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Goldblatt
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Gennery
D006580:Genetic Carrier Screening; D006105:Granulomatous Disease, Chronic / Q000235:genetics* / Q000276:immunology* / Q000473:pathology; D006801:Humans; D008179:Lupus Erythematosus, Discoid / Q000235:genetics / Q000276:immunology / Q000473:pathology; D019255:NADPH Oxidases / Q000172:deficiency* / Q000235:genetics; D009504:Neutrophils / Q000276:immunology / Q000473:pathology; D016032:Randomized Controlled Trials as Topic; D016897:Respiratory Burst / Q000235:genetics / Q000276:immunology
D019255:NADPH Oxidases