DOI: 10.1182/blood.v82.7.2196.2196. X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox

X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox

10.1182/blood.v82.7.2196.2196

Crossref journal-article

American Society of Hematology

Blood (234)

Abstract

Abstract Chronic granulomatous disease (CGD) is an inherited immunodeficiency resulting from the inability of an individual's phagocytes to produce superoxide anions because of defective NADPH oxidase. The disease may be treated by bone marrow transplantation and as such is a candidate for somatic gene therapy. Two thirds of patients have defects in an X- linked gene (X-CGD) encoding gp91-phox, the large subunit of the membrane cytochrome b-245 component of NADPH oxidase. Epstein-Barr virus-transformed B-cell lines from patients with CGD provide a model system for the disease. We have used retrovirus-mediated expression of gp91-phox to reconstitute functionally NADPH oxidase activity in B-cell lines from three unrelated patients with X-CGD. The protein is glycosylated and membrane associated, and the reconstituted oxidase is appropriately activated via protein kinase C. The kinetics of superoxide production by such reconstituted cells is similar to that of normal B-cell lines. These data show the potential of gene therapy for this disease.

Bibliography

Porter, C., Parkar, M., Levinsky, R., Collins, M., & Kinnon, C. (1993). X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox. Blood, 82(7), 2196â2202.

Authors 5

CD Porter (first)
MH Parkar (additional)
RJ Levinsky (additional)
MK Collins (additional)
C Kinnon (additional)

References 0 Referenced 34

None

Dates

Type	When
Created	5 years, 10 months ago (Oct. 13, 2019, 9:40 p.m.)
Deposited	5 years, 9 months ago (Nov. 20, 2019, 6 a.m.)
Indexed	1 year, 1 month ago (July 24, 2024, 7:41 p.m.)
Issued	31 years, 11 months ago (Oct. 1, 1993)
Published	31 years, 11 months ago (Oct. 1, 1993)
Published Print	31 years, 11 months ago (Oct. 1, 1993)

Funders 0

None

BibTeX

@article{Porter_1993, title={X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox}, volume={82}, ISSN={1528-0020}, url={http://dx.doi.org/10.1182/blood.v82.7.2196.2196}, DOI={10.1182/blood.v82.7.2196.2196}, number={7}, journal={Blood}, publisher={American Society of Hematology}, author={Porter, CD and Parkar, MH and Levinsky, RJ and Collins, MK and Kinnon, C}, year={1993}, month=oct, pages={2196–2202} }

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