Advances in gene therapy for ADA-deficient SCID

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Adenosine deaminase (ADA)-dificient severe combined immunodeficiency (SCID) was the first inherited disease treated with gene therapy. The pilot gene therapy studies demonstrated the safety, therapeutic potential and limitations of ADA gene transfer into hematopoietic cells using retroviral vectors. This review describes the latest progress in ADA-SCID clinical trials using peripheral blood lymphocytes (PBLs) and hematopoietic stem cells (HSCs). PBL gene therapy was able to restore T-cell functions after discontinuation of ADA enzyme replacement therapy, but only partially corrected the purine metabolic defect. The development of improved HSC gene transfer protocols, combined with low intensity conditioning, allowed full correction of the immunological and metabolic ADA defects, with clinical benefit. These results have important implications for future applications of gene therapy in other disorders involving the hematopoietic system.

Original languageEnglish
Pages (from-to)515-522
Number of pages8
JournalCurrent Opinion in Molecular Therapeutics
Issue number5
Publication statusPublished - Oct 2002


  • Adenosine deaminase
  • Gene transfer
  • Hemotopoietic stem cells
  • Peripheral blood lymphocytes
  • Primary immunodeficiency
  • Retroviral vector

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Pharmacology, Toxicology and Pharmaceutics(all)


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