Chronic granulomatous disease: towards gene therapy.


Thrasher, A., Segal, A. and Casimir, C. 1993. Chronic granulomatous disease: towards gene therapy. Immunodeficiency. 4 (1-4), pp. 327-33.
TitleChronic granulomatous disease: towards gene therapy.
AuthorsThrasher, A., Segal, A. and Casimir, C.

Failure of a superoxide generating system, the NADPH oxidase, present in neutrophils and other phagocytes gives rise to chronic granulomatous disease (CGD), a group of single gene inherited disorders all characterised by an extreme susceptibility to pyogenic infection, with potentially fatal consequences. About 30% of CGD cases are due to an autosomally inherited deficiency of a 47 kDa cytoplasmic component of the oxidase (p47-phox). Epstein-Barr virus (EBV) immortalised B-lymphocyte lines established from these CGD patients also express this NADPH oxidase defect and consequently are rendered incapable of generating superoxide on stimulation. We have utilised a p47-phox-deficient EBV-transformed B cell line as a recipient for retroviral transfer of a functional p47-phox cDNA. The presence and activity of the retrovirally encoded p47-phox in the transduced cells is demonstrated and we show that this restores their capacity to generate superoxide.

Research GroupMolecular Biology group
PublisherHarwood Academic Publishers
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Deposited02 Dec 2009
Output statusPublished
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