title: Identification of the defective NADPH-oxidase component in chronic granulomatous disease: a study of 57 European families.
abstract: Chronic Granulomatous Disease (CGD) manifests as a predisposition to infection as a result of defective function of the NADPH oxidase of phagocytic cells. Proteins identified as part of this system include two subunits of a cytochrome b (cytochrome b-245) and two cytosolic factors. The affected oxidase component was determined in 63 CGD patients from 57 families, by Western blotting of extracts of their neutrophils with antibodies to those proteins. 38 (67%) of the families were X-linked with a defect of the beta subunit of the cytochrome. 13 (23%) lacked p47-phox, 3 (5%) p67-phox, and 3 (5%) the alpha subunit of the cytochrome.
authors.affiliation: Department of Medicine, University College, Rayne Institute, London, UK.
authors.forename: C
authors.initials: C
authors.lastname: Casimir
authors.forename: M
authors.initials: M
authors.lastname: Chetty
authors.forename: M C
authors.initials: MC
authors.lastname: Bohler
authors.forename: R
authors.initials: R
authors.lastname: Garcia
authors.forename: A
authors.initials: A
authors.lastname: Fischer
authors.forename: C
authors.initials: C
authors.lastname: Griscelli
authors.forename: B
authors.initials: B
authors.lastname: Johnson
authors.forename: A W
authors.initials: AW
authors.lastname: Segal
mesh_terms: D000595:Amino Acid Sequence; D015153:Blotting, Western; D005060:Europe; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*; D019255:NADPH Oxidases
chemical_list: D009247:NADH, NADPH Oxidoreductases; D019255:NADPH Oxidases