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Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. Nikolajeva O., Worth A., Hague R., Martinez-Alier N., Smart J., Adams S., Davies E.G., Gaspar H.B. New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy. 2009 114:3524–3532.Ĭhapel H., Geha R., Rosen F., IUIS PID (Primary Immunodeficiencies) Classification committee Primary immunodeficiency diseases: an update. Gaspar H.B., Aiuti A., Porta F., Candotti F., Hershfield M.S., Notarangelo L.D. No event indicative of leukemic transformation was reported.ĪDA-SCID adenosine deaminase gene therapy immune deficiency immune reconstitution opportunistic infection retroviral vector safety.Ĭopyright © 2018 The Authors.

GT did not impact the incidence of neurologic/hearing impairments. Incidence rates for all of these events were highest during pre-treatment, treatment, and/or 3-month follow-up and then declined over medium-term follow-up. The most common adverse events reported post-GT include upper respiratory tract infection, gastroenteritis, rhinitis, bronchitis, oral candidiasis, cough, neutropenia, diarrhea, and pyrexia. Thirty-nine serious adverse events (SAEs) were reported by 15 of 18 patients no SAEs were considered related to GT. Adverse events were mostly grade 1 or grade 2 and were reported by all 18 patients following GT. Survival was 100% with a median of 6.9 years follow-up (range, 2.3 to 13.4 years). Here, we report short- and medium-term safety analyses from 18 patients enrolled as part of single-arm, open-label studies or compassionate use programs. Gene therapy (GT) with an autologous CD34 +-enriched cell fraction that contains CD34 + cells transduced with a retroviral vector encoding the human ADA cDNA sequence leads to immune reconstitution in most patients. Electronic address: of adenosine deaminase activity leads to severe combined immunodeficiency (ADA-SCID) production and function of T, B, and natural killer (NK) cells are impaired. 6 San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy, 20132 Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy, 20132 Vita-Salute San Raffaele University, Milan, Italy, 20132.