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

Casimir, Colin M. and Chetty, M. and Bohler, M.-C. and Garcia, R. and Fischer, A. and Griscelli, C. and Johnson, Barbara and Segal, Anthony W. (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. ISSN 0014-2972

Full text is not in this repository.

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.

Item Type: Article
Research Areas: A. > School of Science and Technology > Natural Sciences
A. > School of Science and Technology > Natural Sciences > Molecular Biology group
ISI Impact: 31
Item ID: 3297
Useful Links:
Depositing User: Dr Colin Casimir
Date Deposited: 02 Dec 2009 10:08
Last Modified: 10 Mar 2015 10:18
URI: http://eprints.mdx.ac.uk/id/eprint/3297

Actions (login required)

Edit Item Edit Item