{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T21:18:47Z","timestamp":1794431927066,"version":"4.9.1"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Med"],"published-print":{"date-parts":[[2024,2]]},"DOI":"10.1038\/s41591-023-02789-4","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T06:02:24Z","timestamp":1707890544000},"page":"488-497","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency"],"prefix":"10.1038","volume":"30","author":[{"given":"Maddalena","family":"Migliavacca","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Barzaghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Fossati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola M. V.","family":"Rancoita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Gabaldo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Dionisio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Giannelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica Andrea","family":"Salerio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Ferrua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Tucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3514-666X","authenticated-orcid":false,"given":"Valeria","family":"Calbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Gallo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Recupero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Consiglieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Pajno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Sambuco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9394-7292","authenticated-orcid":false,"given":"Alessio","family":"Priolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Ferri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vittoria","family":"Garella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Monti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Silvani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Darin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Casiraghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ambra","family":"Corti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Zancan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Levi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6366-4224","authenticated-orcid":false,"given":"Daniela","family":"Cesana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Carlucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pituch-Noworolska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7830-7008","authenticated-orcid":false,"given":"Dalia","family":"AbdElaziz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0162-0266","authenticated-orcid":false,"given":"Ulrich","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Finocchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Cancrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saverio","family":"Ladogana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7464-0751","authenticated-orcid":false,"given":"Andrea","family":"Meinhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1214-0302","authenticated-orcid":false,"given":"Isabelle","family":"Meyts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Montin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia Dora","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fulvio","family":"Porta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marl\u00e8ne","family":"Pasquet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Speckmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polina","family":"Stepensky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Tommasini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Rabusin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep","family":"Karakas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Galicchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Leonardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9958-2570","authenticated-orcid":false,"given":"Marzia","family":"Duse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8860-6132","authenticated-orcid":false,"given":"Sukru Nail","family":"Guner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clelia","family":"Di Serio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0873-0123","authenticated-orcid":false,"given":"Fabio","family":"Ciceri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Ester","family":"Bernardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5398-1717","authenticated-orcid":false,"given":"Alessandro","family":"Aiuti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Pia","family":"Cicalese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,14]]},"reference":[{"key":"2789_CR1","doi-asserted-by":"crossref","first-page":"3615","DOI":"10.1182\/blood-2011-12-396879","volume":"120","author":"A Hassan","year":"2012","unstructured":"Hassan, A. et al. Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and European Society for Immunodeficiency. Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood 120, 3615\u20133624 (2012).","journal-title":"Blood"},{"key":"2789_CR2","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1007\/s10875-021-01145-w","volume":"42","author":"AY Kreins","year":"2022","unstructured":"Kreins, A. Y. et al. Long-term immune recovery after hematopoietic stem cell transplantation for ADA deficiency: a single-center experience. J. Clin. Immunol. 42, 94\u2013107 (2022).","journal-title":"J. Clin. Immunol."},{"key":"2789_CR3","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1007\/s10875-022-01238-0","volume":"42","author":"E Ghimenton","year":"2022","unstructured":"Ghimenton, E. et al. Hematopoietic cell transplantation for adenosine deaminase severe combined immunodeficiency\u2014improved outcomes in the modern era. J. Clin. Immunol. 42, 819\u2013826 (2022).","journal-title":"J. Clin. Immunol."},{"key":"2789_CR4","doi-asserted-by":"crossref","first-page":"1744","DOI":"10.1016\/j.jaci.2021.10.017","volume":"149","author":"A Lankester","year":"2022","unstructured":"Lankester, A. et al. Hematopoietic cell transplantation in severe combined immunodeficiency: the SCETIDE 2006-2014 European cohort. J. Allergy Clin. Immunol. 149, 1744\u20131754 (2022).","journal-title":"J. Allergy Clin. Immunol."},{"key":"2789_CR5","first-page":"685","volume":"140","author":"DE Geoffrey","year":"2022","unstructured":"Geoffrey, D. E. et al. Outcomes following treatment for adenosine deaminase deficient severe combined immunodeficiency: a report from the PIDTC. Blood 140, 685\u2013705 (2022).","journal-title":"Blood"},{"key":"2789_CR6","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1182\/blood-2014-03-563817","volume":"124","author":"A Bertaina","year":"2014","unstructured":"Bertaina, A. et al. HLA-haploidentical stem cell transplantation after removal of \u03b1\u03b2+ T and B cells in children with nonmalignant disorders. Blood 124, 822\u2013826 (2014).","journal-title":"Blood"},{"key":"2789_CR7","doi-asserted-by":"crossref","first-page":"641","DOI":"10.3324\/haematol.2020.255620","volume":"106","author":"F Tucci","year":"2021","unstructured":"Tucci, F. et al. Emapalumab treatment in an ADA-SCID patient with refractory hemophagocytic lymphohistiocytosis-related graft failure and disseminated bacillus Calmette\u2013Gu\u00e9rin infection. Haematologica 106, 641\u2013646 (2021).","journal-title":"Haematologica"},{"key":"2789_CR8","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1007\/s10875-022-01239-z","volume":"42","author":"C Tsilifis","year":"2022","unstructured":"Tsilifis, C. et al. TCR\u03b1\u03b2-depleted haploidentical grafts are a safe alternative to HLA-matched unrelated donor stem cell transplants for infants with severe combined immunodeficiency. J. Clin. Immunol. 42, 851\u2013858 (2022).","journal-title":"J. Clin. Immunol."},{"key":"2789_CR9","doi-asserted-by":"crossref","first-page":"113","DOI":"10.3389\/fimmu.2018.00113","volume":"9","author":"M Migliavacca","year":"2018","unstructured":"Migliavacca, M. et al. First occurrence of plasmablastic lymphoma in adenosine deaminase-deficient severe combined immunodeficiency disease patient and review of the literature. Front Immunol. 9, 113 (2018).","journal-title":"Front Immunol."},{"key":"2789_CR10","doi-asserted-by":"crossref","first-page":"3524","DOI":"10.1182\/blood-2009-06-189209","volume":"114","author":"HB Gaspar","year":"2009","unstructured":"Gaspar, H. B. et al. How I treat ADA deficiency. Blood 114, 3524\u20133532 (2009).","journal-title":"Blood"},{"key":"2789_CR11","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1016\/j.jaip.2023.01.032","volume":"11","author":"E Grunebaum","year":"2023","unstructured":"Grunebaum, E. et al. Updated management guidelines for adenosine deaminase deficiency. J. Allergy Clin. Immunol. Pract. 11, 1665\u20131675 (2023).","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"2789_CR12","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/s41576-020-00298-5","volume":"22","author":"G Ferrari","year":"2021","unstructured":"Ferrari, G. et al. Gene therapy using haematopoietic stem and progenitor cells. Nat. Rev. Genet. 22, 216\u2013234 (2021).","journal-title":"Nat. Rev. Genet."},{"key":"2789_CR13","doi-asserted-by":"crossref","first-page":"2002","DOI":"10.1056\/NEJMoa2027675","volume":"384","author":"DB Kohn","year":"2021","unstructured":"Kohn, D. B. et al. Autologous ex vivo lentiviral gene therapy for adenosine deaminase deficiency. N. Engl. J. Med. 384, 2002\u20132013 (2021).","journal-title":"N. Engl. J. Med."},{"key":"2789_CR14","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.1038\/s41409-021-01378-8","volume":"56","author":"AC Lankester","year":"2021","unstructured":"Lankester, A. C. et al. EBMT\/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity. Bone Marrow Transplant. 56, 2052\u20132062 (2021).","journal-title":"Bone Marrow Transplant."},{"key":"2789_CR15","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1056\/NEJMoa0805817","volume":"360","author":"A Aiuti","year":"2009","unstructured":"Aiuti, A. et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N. Engl. J. Med. 360, 447\u2013458 (2009).","journal-title":"N. Engl. J. Med."},{"key":"2789_CR16","doi-asserted-by":"crossref","first-page":"26917","DOI":"10.1016\/j.ymthe.2017.12.022","volume":"26","author":"MP Cicalese","year":"2018","unstructured":"Cicalese, M. P. et al. Gene therapy for adenosine deaminase deficiency: a comprehensive evaluation of short- and medium-term safety. Mol. Ther. 26, 26917\u201326931 (2018).","journal-title":"Mol. Ther."},{"key":"2789_CR17","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1182\/blood-2016-01-688226","volume":"128","author":"MP Cicalese","year":"2016","unstructured":"Cicalese, M. P. et al. Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. Blood 128, 45\u201354 (2016).","journal-title":"Blood"},{"key":"2789_CR18","doi-asserted-by":"crossref","first-page":"737","DOI":"10.15252\/emmm.201707573","volume":"9","author":"A Aiuti","year":"2017","unstructured":"Aiuti, A. et al. Gene therapy for ADA-SCID, the first marketing approval of an ex vivo gene therapy in Europe: paving the road for the next generation of advanced therapy medicinal products. EMBO Mol. Med. 9, 737\u2013740 (2017).","journal-title":"EMBO Mol. Med."},{"key":"2789_CR19","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1016\/j.jaci.2013.05.040","volume":"132","author":"MG Lawrence","year":"2013","unstructured":"Lawrence, M. G. et al. Elevated IgE and atopy in patients treated for early-onset ADA-SCID. J. Allergy Clin. Immunol. 132, 1444\u20131446 (2013).","journal-title":"J. Allergy Clin. Immunol."},{"key":"2789_CR20","doi-asserted-by":"crossref","first-page":"1187959","DOI":"10.3389\/fimmu.2023.1187959","volume":"14","author":"ES Fratini","year":"2023","unstructured":"Fratini, E. S. et al. Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review. Front. Immunol. 14, 1187959 (2023).","journal-title":"Front. Immunol."},{"key":"2789_CR21","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.3390\/biomedicines11071809","volume":"11","author":"D Canarutto","year":"2023","unstructured":"Canarutto, D. et al. Outcome of BCG vaccination in ADA-SCID patients: a 12-patient series. Biomedicines 11, 1809 (2023).","journal-title":"Biomedicines"},{"key":"2789_CR22","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1038\/s41409-019-0573-6","volume":"54","author":"F Tucci","year":"2019","unstructured":"Tucci, F. et al. Bone marrow harvesting from paediatric patients undergoing haematopoietic stem cell gene therapy. Bone Marrow Transplant. 54, 1995\u20132003 (2019).","journal-title":"Bone Marrow Transplant."},{"key":"2789_CR23","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1016\/j.jaci.2011.04.014","volume":"127","author":"E Grunebaum","year":"2011","unstructured":"Grunebaum, E. et al. Purine metabolism, immune reconstitution, and abdominal adipose tumor after gene therapy for adenosine deaminase deficiency. J. Allergy Clin. Immunol. 127, 1417\u20131419 (2011).","journal-title":"J. Allergy Clin. Immunol."},{"key":"2789_CR24","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1038\/s41591-022-01934-9","volume":"28","author":"A Aiuti","year":"2022","unstructured":"Aiuti, A. et al. Ensuring a future for gene therapy for rare diseases. Nat. Med. 28, 1985\u20131988 (2022).","journal-title":"Nat. Med."},{"key":"2789_CR25","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1182\/blood.2020010260","volume":"138","author":"BC Reinhardt","year":"2021","unstructured":"Reinhardt, B. C. et al. Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency. Blood 138, 1304\u20131316 (2021).","journal-title":"Blood"},{"key":"2789_CR26","doi-asserted-by":"crossref","first-page":"2688","DOI":"10.1182\/blood-2011-01-329359","volume":"118","author":"R Sokolic","year":"2011","unstructured":"Sokolic, R. et al. Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase deficient severe combined immune deficiency. Blood 118, 2688\u20132694 (2011).","journal-title":"Blood"},{"key":"2789_CR27","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-08550-5","volume":"7","author":"N Starc","year":"2017","unstructured":"Starc, N. et al. Biological and functional characterization of bone marrow-derived mesenchymal stromal cells from patients affected by primary immunodeficiency. Sci. Rep. 7, 8153 (2017).","journal-title":"Sci. Rep."},{"key":"2789_CR28","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1089\/scd.2016.0230","volume":"26","author":"M Cavazzana","year":"2017","unstructured":"Cavazzana, M. et al. Gene therapy with hematopoietic stem cells: the diseased bone marrow\u2019s point of view. Stem Cells Dev. 26, 71\u201376 (2017).","journal-title":"Stem Cells Dev."},{"key":"2789_CR29","doi-asserted-by":"crossref","first-page":"3628","DOI":"10.1182\/blood-2012-08-446559","volume":"120","author":"B Gaspar","year":"2012","unstructured":"Gaspar, B. Gene therapy for ADA-SCID: defining the factors for successful outcome. Blood 120, 3628\u20133629 (2012).","journal-title":"Blood"},{"key":"2789_CR30","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1097\/ACI.0b013e3283327da5","volume":"9","author":"AV Sauer","year":"2009","unstructured":"Sauer, A. V. et al. New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy. Curr. Opin. Allergy Clin. Immunol. 9, 496\u2013502 (2009).","journal-title":"Curr. Opin. Allergy Clin. Immunol."},{"key":"2789_CR31","doi-asserted-by":"crossref","first-page":"e401","DOI":"10.1515\/cclm-2021-0307","volume":"59","author":"S Malvagia","year":"2021","unstructured":"Malvagia, S. et al. The successful inclusion of ADA SCID in Tuscany expanded newborn screening program. Clin. Chem. Lab. Med. 59, e401\u2013e404 (2021).","journal-title":"Clin. Chem. Lab. Med."},{"key":"2789_CR32","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S0140-6736(23)00731-6","volume":"402","author":"MS Thakar","year":"2023","unstructured":"Thakar, M.S. et al. Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium. Lancet 402, 129\u2013140 (2023).","journal-title":"Lancet"},{"key":"2789_CR33","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.jaci.2018.04.029","volume":"143","author":"VH-D Kim","year":"2019","unstructured":"Kim, V. H.-D. et al. Neutropenia among patients with adenosine deaminase deficiency. J. Allergy Clin. Immunol. 143, 403\u2013405 (2019).","journal-title":"J. Allergy Clin. Immunol."},{"key":"2789_CR34","doi-asserted-by":"crossref","first-page":"3216","DOI":"10.1182\/blood-2009-03-209221","volume":"114","author":"AV Sauer","year":"2009","unstructured":"Sauer, A. V. et al. ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL\/OPG imbalance and osteoblast insufficiency. Blood 114, 3216\u20133226 (2009).","journal-title":"Blood"},{"key":"2789_CR35","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.omtm.2021.05.013","volume":"22","author":"D Canarutto","year":"2021","unstructured":"Canarutto, D. et al. Peripheral blood stem and progenitor cell collection in pediatric candidates for ex vivo gene therapy: a 10-year series. Mol. Ther. Methods Clin. Dev. 22, 76\u201383 (2021).","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"2789_CR36","volume":"11","author":"AV Sauer","year":"2017","unstructured":"Sauer, A. V. et al. Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients. Sci. Rep. 11, 40136 (2017).","journal-title":"Sci. Rep."},{"key":"2789_CR37","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1007\/s10875-020-00777-8","volume":"40","author":"R Pajno","year":"2020","unstructured":"Pajno, R. et al. Urogenital abnormalities in adenosine deaminase deficiency. J. Clin. Immunol. 40, 610\u2013618 (2020).","journal-title":"J. Clin. Immunol."},{"key":"2789_CR38","unstructured":"Burgio, G. R., Perinotto, G. & Ugazio, A. G. Pediatria Essenziale (UTET, 1991)."},{"key":"2789_CR39","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1081\/NCN-200027508","volume":"23","author":"F Carlucci","year":"2004","unstructured":"Carlucci, F. et al. Evaluation of ADA gene expression and transduction efficiency in ADA\/SCID patients undergoing gene therapy. Nucleosides Nucleotides Nucleic Acids 23, 1245\u20131248 (2004).","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"2789_CR40","doi-asserted-by":"crossref","first-page":"2410","DOI":"10.1126\/science.1070104","volume":"296","author":"A Aiuti","year":"2002","unstructured":"Aiuti, A. et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296, 2410\u20132413 (2002).","journal-title":"Science"},{"key":"2789_CR41","doi-asserted-by":"crossref","first-page":"3546","DOI":"10.1182\/blood-2009-02-202085","volume":"114","author":"B Cassani","year":"2009","unstructured":"Cassani, B. 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 114, 3546\u20133561 (2009).","journal-title":"Blood"},{"key":"2789_CR42","doi-asserted-by":"crossref","first-page":"2434","DOI":"10.1002\/hep.30160","volume":"68","author":"F Tucci","year":"2018","unstructured":"Tucci, F. et al. Successful treatment with ledipasvir\/sofosbuvir in an infant with severe combined immunodeficiency caused by adenosine deaminase deficiency with HCV allowed gene therapy with Strimvelis. Hepatology 68, 2434\u20132437 (2018).","journal-title":"Hepatology"}],"container-title":["Nature Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41591-023-02789-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41591-023-02789-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41591-023-02789-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T11:12:50Z","timestamp":1708686770000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41591-023-02789-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["2789"],"URL":"https:\/\/doi.org\/10.1038\/s41591-023-02789-4","relation":{},"ISSN":["1078-8956","1546-170X"],"issn-type":[{"value":"1078-8956","type":"print"},{"value":"1546-170X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2]]},"assertion":[{"value":"31 August 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 December 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 February 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) is a joint venture between the Telethon Foundation and Ospedale San Raffaele (OSR). GT for ADA-SCID was developed at SR-Tiget and licensed to GlaxoSmithKline (GSK) in 2010. The treatments under NPP and HE were provided free of charge by GSK. Strimvelis Marketing Authorization in Europe occurred in 2016 (under GSK holding) and then transferred to Orchard Therapeutics (Netherlands) B.V. in 2018, which divested the program and transferred the authorization to Fondazione Telethon that became the holder in July 2023. The product, apart from the EU, is also currently approved in Iceland, Norway, Liechtenstein and the United Kingdom. The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript. A.A. receives funding from Fondazione Telethon for other research projects. A.A. was the PI of pilot, pivotal and long-term F-U study of SR-Tiget clinical trials of gene therapy for ADA-SCID. M.P.C. and M.M. are PI and deputy PI, respectively, of the Strimvelis Registry, RIS and RMMs studies. The other authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}