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Blood, 22 October 2009, Vol. 114, No. 17, pp. 3524-3532. Prepublished online as a Blood First Edition Paper on July 28, 2009; DOI 10.1182/blood-2009-06-189209. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2009-06-189209v1 114/17/3524    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Google Scholar Articles by Gaspar, H. B. Articles by Notarangelo, L. D. PubMed PubMed Citation Articles by Gaspar, H. B. Articles by Notarangelo, L. D. Related Collections Immunobiology How I Treat Free Research Articles Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HOW I TREAT How I treat ADA deficiency H. Bobby Gaspar1, Alessandro Aiuti2,3, Fulvio Porta4, Fabio Candotti5, Michael S. Hershfield6, and Luigi D. Notarangelo7 1 Centre for Immunodeficiency, Molecular Immunology Unit, University College London Institute of Child Health, London, United Kingdom; 2 San Raffaele Telethon Institute for Gene Therapy, Milan, Italy; 3 University of Rome Tor Vergata, Rome, Italy; 4 Oncology-Haematology and BMT Unit, Ospedale dei Bambini, Spedali Civili, Brescia, Italy; 5 Disorders of Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; 6 Departments of Medicine and Biochemistry, Duke University Medical Center, Durham, NC; and 7 Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital Boston, MA Adenosine deaminase deficiency is a disorder of purine metabolism leading to severe combined immunodeficiency (ADA-SCID). Without treatment, the condition is fatal and requires early intervention. Haematopoietic stem cell transplantation is the major treatment for ADA-SCID, although survival following different donor sources varies considerably. Unlike other SCID forms, 2 other options are available for ADA-SCID: enzyme replacement therapy (ERT) with pegylated bovine ADA, and autologous haematopoietic stem cell gene therapy (GT). Due to the rarity of the condition, the lack of large scale outcome studies, and availability of different treatments, guidance on treatment strategies is limited. We have reviewed the currently available evidence and together with our experience of managing this condition propose a consensus management strategy. Matched sibling donor transplants represent a successful treatment option with high survival rates and excellent immune recovery. Mismatched parental donor transplants have a poor survival outcome and should be avoided unless other treatments are unavailable. ERT and GT both show excellent survival, and therefore the choice between ERT, MUD transplant, or GT is difficult and dependent on several factors, including accessibility to the different modalities, response of patients to long-term ERT, and the attitudes of physicians and parents to the short- and potential long-term risks associated with different treatments. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: B. Cassani, E. Montini, G. Maruggi, A. Ambrosi, M. Mirolo, S. Selleri, E. Biral, I. Frugnoli, V. Hernandez-Trujillo, C. Di Serio, et al. Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy Blood, October 22, 2009; 114(17): 3546 - 3556. [Abstract] [Full Text] [PDF]

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