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Identification of the defective NADPH‐oxidase component in Chronic Granulomatous Disease: a study of 57 European families
Author(s) -
CASIMIR C.,
CHETTY M.,
BOHLER M.C.,
GARCIA R.,
FISCHER A.,
GRISCELLI C.,
JOHNSON B.,
SEGAL A. W.
Publication year - 1992
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1111/j.1365-2362.1992.tb01481.x
Subject(s) - chronic granulomatous disease , cytochrome c oxidase , protein subunit , nadph oxidase , oxidase test , cytochrome , cytochrome c , cytochrome b , cytosol , biology , microbiology and biotechnology , immunology , chemistry , mitochondrion , biochemistry , enzyme , gene , mitochondrial dna
Abstract. Chronic Granulomatous Disease (CGD) manifests as a predisposition to infection as a result of defective function of the NADPH oxidase of phago‐cytic 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 β subunit of the cytochrome. 13 (23%) lacked p47‐phox, 3 (5%) p67‐ phox , and 3 (5%) the α subunit of the cytochrome.