CD34+ peripheral blood progenitors as a target for genetic correction of the two flavocytochrome b558 defective forms of chronic granulomatous disease

Blood. 1994 Jul 1;84(1):53-8.

Abstract

Chronic granulomatous disease (CGD) can result from any of four single gene defects involving components of the superoxide (O2-.)-generating phagocyte NADPH oxidase (phox). The phox transmembrane flavocytochrome b558 is composed of two peptides, gp91phox and p22phox. Mutations of gp91phox cause X-linked CGD, whereas mutations of p22phox cause one of the three autosomal recessive forms of CGD. We used the Maloney leukemia virus-based MFG retrovirus vector to produce replication defective retroviruses encoding gp91phox or p22phox. To maximize viral titer MFG retroviruses do not contain internal promoter or resistance elements. Epstein-Barr virus transformed B-lymphocyte cell lines (EBV-B) derived from normal individuals contain phox components and produce O2-., whereas those derived from CGD patients show the CGD defect. Transduction of gp91phox or p22phox-deficient CGD EBV-B lines resulted in correction of O2-. production from a barely detectable baseline to an average 7.2% and 13.8% of normal control, respectively, without any selective regimen to enrich for transduced cells. CD34+ hematopoietic progenitor cells, the therapeutic target for gene therapy of CGD, were isolated from peripheral blood of CGD patients, transduced with MFG-phox retroviruses, and differentiated in culture to mature phagocytes. Transduction of progenitors corrected the gp91phox (seven patients) and p22phox (two patients) CGD phagocyte oxidase defect to 2.5% and 4.9% of normal O2-. production, respectively, representing an 87-fold and 161-fold increase. These studies show correction of flavocytochrome b558-deficient CGD in primary hematopoietic progenitors, providing a basis for development of gene therapy for the X-linked gp91phox and autosomal p22phox-deficient forms of CGD.

MeSH terms

  • Antigens, CD / analysis*
  • Antigens, CD34
  • B-Lymphocytes / metabolism
  • Cell Line
  • Cytochrome b Group / genetics*
  • Genetic Therapy*
  • Granulomatous Disease, Chronic / genetics*
  • Granulomatous Disease, Chronic / therapy
  • Hematopoietic Stem Cells / immunology
  • Hematopoietic Stem Cells / metabolism*
  • Humans
  • NADH, NADPH Oxidoreductases / genetics*
  • NADPH Oxidases
  • Superoxides / metabolism
  • Transduction, Genetic

Substances

  • Antigens, CD
  • Antigens, CD34
  • Cytochrome b Group
  • Superoxides
  • cytochrome b558
  • NADH, NADPH Oxidoreductases
  • NADPH Oxidases