Chronic granulomatous disease: towards gene therapy.

Thrasher, Adrian J., Segal, Anthony W. and Casimir, Colin M. ORCID: https://orcid.org/0000-0003-1689-4814 (1993) Chronic granulomatous disease: towards gene therapy. Immunodeficiency, 4 (1-4) . pp. 327-33. ISSN 1067-795X [Article]

Abstract

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.

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