Handbook_Volume III

43 1. Aspetti Generali Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults. Blood 2020, 136, 12011211, doi:10.1182/blood.2020005590 [26] Strocchio, L.; Pagliara, D.; Algeri, M.; Li Pira, G.; Rossi, F.; Bertaina, V.; Leone, G.; Pinto, R.M.; Andreani, M.; Agolini, E.; et al. HLA-haploidentical TCRalphabeta+/CD19+-depleted stem cell transplantation in children and young adults with Fanconi anemia. Blood Adv 2021, 5, 1333-1339, doi:10.1182/bloodadvances.2020003707 [27] Bonfim, C.; Ribeiro, L.; Nichele, S.; Loth, G.; Bitencourt, M.; Koliski, A.; Kuwahara, C.; Fabro, A.L.; Pereira, N.F.; Pilonetto, D.; et al. Haploidentical Bone Marrow Transplantation with Post-Transplant Cyclophosphamide for Children and Adolescents with Fanconi Anemia. Biol Blood Marrow Transplant 2017, 23, 310-317, doi:10.1016/j.bbmt.2016.11.006 [28] Fagioli, F.; Quarello, P.; Zecca, M.; Lanino, E.; Corti, P.; Favre, C.; Ripaldi, M.; Ramenghi, U.; Locatelli, F.; Prete, A. Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry. Br J Haematol 2014, 165, 673-681, doi:10.1111/ bjh.12787 [29] Locatelli, F.; Kabbara, N.; Ruggeri, A.; Ghavamzadeh, A.; Roberts, I.; Li, C.K.; Bernaudin, F.; Vermylen, C.; Dalle, J.H.; Stein, J.; et al. Outcome of patients with hemoglobinopathies given either cord blood or bone marrow transplantation from an HLA-identical sibling. Blood 2013, 122, 1072-1078, doi:10.1182/blood-2013-03-489112 [30] Angelucci, E.; Matthes-Martin, S.; Baronciani, D.; Bernaudin, F.; Bonanomi, S.; Cappellini, M.D.; Dalle, J.H.; Di Bartolomeo, P.; de Heredia, C.D.; Dickerhoff, R.; et al. Hematopoietic stem cell transplantation in thalassemia major and sickle cell disease: indications and management recommendations from an international expert panel. Haematologica 2014, 99, 811-820, doi:10.3324/haematol.2013.099747 [31] Eapen, M.; Brazauskas, R.; Walters, M.C.; Bernaudin, F.; Bo-Subait, K.; Fitzhugh, C.D.; Hankins, J.S.; Kanter, J.; Meerpohl, J.J.; Bolanos-Meade, J.; et al. Effect of donor type and conditioning regimen intensity on allogeneic transplantation outcomes in patients with sickle cell disease: a retrospective multicentre, cohort study. Lancet Haematol 2019, 6, e585-e596, doi:10.1016/ S2352-3026(19)30154-1 [32] Frangoul, H.; Altshuler, D.; Cappellini, M.D.; Chen, Y.S.; Domm, J.; Eustace, B.K.; Foell, J.; de la Fuente, J.; Grupp, S.; Handgretinger, R.; et al. CRISPR-Cas9 Gene Editing for Sickle Cell Disease and beta-Thalassemia. N Engl J Med 2021, 384, 252-260, doi:10.1056/NEJMoa2031054 [33] Tan, E.Y.; Boelens, J.J.; Jones, S.A.; Wynn, R.F. Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism. Front Pediatr 2019, 7, 433, doi:10.3389/fped.2019.00433 [34] Gentner, B.; Tucci, F.; Galimberti, S.; Fumagalli, F.; De Pellegrin, M.; Silvani, P.; Camesasca, C.; Pontesilli, S.; Darin, S.; Ciotti, F.; et al. Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome. N Engl J Med 2021, 385, 1929-1940, doi:10.1056/NEJMoa2106596 [35] Fumagalli, F.; Calbi, V.; Natali Sora, M.G.; Sessa, M.; Baldoli, C.; Rancoita, P.M.V.; Ciotti, F.; Sarzana, M.; Fraschini, M.; Zambon, A.A.; et al. Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access. Lancet 2022, 399, 372-383, doi:10.1016/S01406736(21)02017-1 [36] Sobacchi, C.; Schulz, A.; Coxon, F.P.; Villa, A.; Helfrich, M.H. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol 2013, 9, 522-536, doi:10.1038/ nrendo.2013.137.

RkJQdWJsaXNoZXIy ODUzNzk5