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Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency
Open accessAbstract
BACKGROUND: We investigated the long-term outcome of gene therapy for severe combined immunodeficiency (SCID) due to the lack of adenosine deaminase (ADA), a fatal disorder of purine metabolism and immunodeficiency. METHODS: We infused autologous CD34+ bone marrow cells transduced with a retroviral vector containing the ADA gene into 10 children with SCID due to ADA deficiency who lacked an HLA-identical sibling donor, after nonmyeloablative conditioning with busulfan. Enzyme-replacement therapy was not given after infusion of the cells. RESULTS: All patients are alive after a median follow-up of 4.0 years (range, 1.8 to 8.0). Transduced hematopoietic stem cells have stably engrafted and differentiated into myeloid cells containing ADA (mean range at 1 year in bone marrow lineages, 3.5 to 8.9%) and lymphoid cells (mean range in peripheral blood, 52.4 to 88.0%). Eight patients do not require enzyme-replacement therapy, their blood cells continue to express ADA, and they have no signs of defective detoxification of purine metabolites. Nine patients had immune reconstitution with increases in T-cell counts (median count at 3 years, 1.07x10(9) per liter) and normalization of T-cell function. In the five patients in whom intravenous immune globulin replacement was discontinued, antigen-specific antibody responses were elicited after exposure to vaccines or viral antigens. Effective protection against infections and improvement in physical development made a normal lifestyle possible. Serious adverse events included prolonged neutropenia (in two patients), hypertension (in one), central-venous-catheter-related infections (in two), Epstein-Barr virus reactivation (in one), and autoimmune hepatitis (in one). CONCLUSIONS: Gene therapy, combined with reduced-intensity conditioning, is a safe and effective treatment for SCID in patients with ADA deficiency. (ClinicalTrials.gov numbers, NCT00598481 and NCT00599781.)
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Metadata
- Authors
- Aiuti, A., Cattaneo, F., Galimberti, S., Benninghoff, U., Cassani, B., Callegaro, L., Scaramuzza, S., Andolfi, G., Mirolo, M., Brigida, I., Tabucchi, A., Carlucci, F., Eibl, M., Aker, M., Slavin, S., Al-Mousa, H., Al Ghonaium, A., Ferster, A., Duppenthaler, A., Notarangelo, L., Wintergerst, U., Buckley, R. H., Bregni, M., Marktel, S., Valsecchi, M. G., Rossi, P., Ciceri, F., Miniero, R., Bordignon, C., & Roncarolo, M.-G.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2009-01-29
- Volume
- 360
- Issue
- 5
- Pages
- 447-458
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2121444412
- Cited by
- 1,007
- References
- 1
- FWCI
- 65.94
- Type
- journal article
- Language
- en
- Open access
- bronze
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