Identification of the defective NADPH-oxidase component in chronic granulomatous disease: a study of 57 European families

Article

Casimir, C., Chetty, M., Bohler, M., Garcia, R., Fischer, A., Griscelli, C., Johnson, B. and Segal, A. 1992. Identification of the defective NADPH-oxidase component in chronic granulomatous disease: a study of 57 European families. European Journal of Clinical Investigation. 22 (6), pp. 403-406. https://doi.org/10.1111/j.1365-2362.1992.tb01481.x
TypeArticle
TitleIdentification of the defective NADPH-oxidase component in chronic granulomatous disease: a study of 57 European families
AuthorsCasimir, C., Chetty, M., Bohler, M., Garcia, R., Fischer, A., Griscelli, C., Johnson, B. and Segal, A.
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.

Research GroupMolecular Biology group
PublisherWileyBlackwell
JournalEuropean Journal of Clinical Investigation
ISSN0014-2972
Publication dates
PrintJun 1992
Publication process dates
Deposited02 Dec 2009
Output statusPublished
Digital Object Identifier (DOI)https://doi.org/10.1111/j.1365-2362.1992.tb01481.x
LanguageEnglish
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