{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T14:07:20Z","timestamp":1780668440673,"version":"3.54.1"},"reference-count":158,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T00:00:00Z","timestamp":1775779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T00:00:00Z","timestamp":1775779200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Bone Marrow Transplant"],"published-print":{"date-parts":[[2026,6]]},"DOI":"10.1038\/s41409-026-02839-8","type":"journal-article","created":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T15:58:09Z","timestamp":1775836689000},"page":"647-662","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Bringing the rare into sight: applications of haploidentical stem cell transplantation in the treatment of rare diseases"],"prefix":"10.1038","volume":"61","author":[{"given":"Xiao-Di","family":"Ma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5018-6507","authenticated-orcid":false,"given":"Zheng-Li","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2145-6643","authenticated-orcid":false,"given":"Xiao-Jun","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,4,10]]},"reference":[{"key":"2839_CR1","doi-asserted-by":"crossref","unstructured":"Bacigalupo A, Lankester A, Ciceri F, Bertaina A. Haploidentical HCT. In: Sureda A, Corbacioglu S, Greco R, Kr\u00f6ger N, Carreras E, editors. The EBMT handbook: hematopoietic cell transplantation and cellular therapies. Cham: Springer; 2024. p 577\u2013585.","DOI":"10.1007\/978-3-031-44080-9_65"},{"key":"2839_CR2","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1038\/bmt.2012.66","volume":"47","author":"JR Passweg","year":"2012","unstructured":"Passweg JR, Baldomero H, Gratwohl A, Bregni M, Cesaro S, Dreger P, et al. The EBMT activity survey: 1990-2010. Bone Marrow Transplant. 2012;47:906\u201323. https:\/\/doi.org\/10.1038\/bmt.2012.66.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR3","doi-asserted-by":"publisher","first-page":"6006","DOI":"10.1182\/blood-2011-07-338822","volume":"118","author":"Y Reisner","year":"2011","unstructured":"Reisner Y, Hagin D, Martelli MF. Haploidentical hematopoietic transplantation: current status and future perspectives. Blood. 2011;118:6006\u201317. https:\/\/doi.org\/10.1182\/blood-2011-07-338822.","journal-title":"Blood"},{"key":"2839_CR4","doi-asserted-by":"publisher","first-page":"1394","DOI":"10.1097\/cm9.0000000000002235","volume":"135","author":"X Wang","year":"2022","unstructured":"Wang X, Huang R, Zhang X, Zhang X. Current status and prospects of hematopoietic stem cell transplantation in China. Chin Med J. 2022;135:1394\u2013403. https:\/\/doi.org\/10.1097\/cm9.0000000000002235.","journal-title":"Chin Med J"},{"key":"2839_CR5","doi-asserted-by":"publisher","first-page":"3065","DOI":"10.1182\/blood-2005-05-2146","volume":"107","author":"DP Lu","year":"2006","unstructured":"Lu DP, Dong L, Wu T, Huang XJ, Zhang MJ, Han W, et al. Conditioning including antithymocyte globulin followed by unmanipulated HLA-mismatched\/haploidentical blood and marrow transplantation can achieve comparable outcomes with HLA-identical sibling transplantation. Blood. 2006;107:3065\u201373. https:\/\/doi.org\/10.1182\/blood-2005-05-2146.","journal-title":"Blood"},{"key":"2839_CR6","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1016\/j.bbmt.2008.03.005","volume":"14","author":"L Luznik","year":"2008","unstructured":"Luznik L, O\u2019Donnell PV, Symons HJ, Chen AR, Leffell MS, Zahurak M, et al. HLA-haploidentical bone marrow transplantation for hematologic malignancies using nonmyeloablative conditioning and high-dose, posttransplantation cyclophosphamide. Biol Blood Marrow Transplant. 2008;14:641\u201350. https:\/\/doi.org\/10.1016\/j.bbmt.2008.03.005.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR7","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1016\/j.bbmt.2016.12.628","volume":"23","author":"AE DeZern","year":"2017","unstructured":"DeZern AE, Zahurak M, Symons H, Cooke K, Jones RJ, Brodsky RA. Alternative donor transplantation with high-dose post-transplantation cyclophosphamide for refractory severe aplastic anemia. Biol Blood Marrow Transplant. 2017;23:498\u2013504. https:\/\/doi.org\/10.1016\/j.bbmt.2016.12.628.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR8","doi-asserted-by":"publisher","first-page":"1523","DOI":"10.3324\/haematol.2011.059378","volume":"97","author":"B Federmann","year":"2012","unstructured":"Federmann B, Bornhauser M, Meisner C, Kordelas L, Beelen DW, Stuhler G, et al. Haploidentical allogeneic hematopoietic cell transplantation in adults using CD3\/CD19 depletion and reduced intensity conditioning: a phase II study. Haematologica. 2012;97:1523\u201331. https:\/\/doi.org\/10.3324\/haematol.2011.059378.","journal-title":"Haematologica"},{"key":"2839_CR9","doi-asserted-by":"publisher","first-page":"2518","DOI":"10.1097\/cm9.0000000000001471","volume":"134","author":"JZ Wang","year":"2021","unstructured":"Wang JZ, Huang XJ, Zhang YY, Tang FF, Han TT, Mo XD, et al. Successful hematopoietic stem cell transplantation with haploidentical donors and non-irradiation conditioning in patients with Fanconi anemia. Chin Med J. 2021;134:2518\u201320. https:\/\/doi.org\/10.1097\/cm9.0000000000001471.","journal-title":"Chin Med J"},{"key":"2839_CR10","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1111\/bjh.15438","volume":"182","author":"Q Sun","year":"2018","unstructured":"Sun Q, Wu B, Lan H, Meng F, Ma X, Chen X, et al. Haploidentical haematopoietic stem cell transplantation for thalassaemia major based on an FBCA conditioning regimen. Br J Haematol. 2018;182:554\u20138. https:\/\/doi.org\/10.1111\/bjh.15438.","journal-title":"Br J Haematol"},{"key":"2839_CR11","doi-asserted-by":"publisher","first-page":"921","DOI":"10.1038\/nrd3275","volume":"9","author":"E Tambuyzer","year":"2010","unstructured":"Tambuyzer E. Rare diseases, orphan drugs and their regulation: questions and misconceptions. Nat Rev Drug Discov. 2010;9:921\u20139. https:\/\/doi.org\/10.1038\/nrd3275.","journal-title":"Nat Rev Drug Discov"},{"key":"2839_CR12","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1002\/ajmg.a.61124","volume":"179","author":"CR Ferreira","year":"2019","unstructured":"Ferreira CR. The burden of rare diseases. Am J Med Genet A. 2019;179:885\u201392. https:\/\/doi.org\/10.1002\/ajmg.a.61124.","journal-title":"Am J Med Genet A"},{"key":"2839_CR13","doi-asserted-by":"publisher","unstructured":"Segura EER, Ayoub PG, Hart KL, Kohn DB. Gene therapy for \u03b2-hemoglobinopathies: from discovery to clinical trials. Viruses. 2023;15 https:\/\/doi.org\/10.3390\/v15030713","DOI":"10.3390\/v15030713"},{"key":"2839_CR14","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-025-03828-8","volume":"20","author":"U Gro\u0161elj","year":"2025","unstructured":"Gro\u0161elj U, Kav\u010di\u010d M, Drole Torkar A, Kafol J, Lain\u0161\u010dek D, Jerala R, et al. Gene therapy of rare diseases as a milestone in medicine\u2014overview of the field and report on initial experiences in Slovenia. Orphanet J Rare Dis. 2025;20:279. https:\/\/doi.org\/10.1186\/s13023-025-03828-8.","journal-title":"Orphanet J Rare Dis"},{"key":"2839_CR15","doi-asserted-by":"publisher","first-page":"2020","DOI":"10.1182\/bloodadvances.2018021162","volume":"2","author":"GE Georges","year":"2018","unstructured":"Georges GE, Doney K, Storb R. Severe aplastic anemia: allogeneic bone marrow transplantation as first-line treatment. Blood Adv. 2018;2:2020\u20138. https:\/\/doi.org\/10.1182\/bloodadvances.2018021162.","journal-title":"Blood Adv"},{"key":"2839_CR16","doi-asserted-by":"publisher","first-page":"1186","DOI":"10.1056\/nejm199810223391702","volume":"339","author":"F Aversa","year":"1998","unstructured":"Aversa F, Tabilio A, Velardi A, Cunningham I, Terenzi A, Falzetti F, et al. Treatment of high-risk acute leukemia with T-cell-depleted stem cells from related donors with one fully mismatched HLA haplotype. N Engl J Med. 1998;339:1186\u201393. https:\/\/doi.org\/10.1056\/nejm199810223391702.","journal-title":"N Engl J Med"},{"key":"2839_CR17","doi-asserted-by":"publisher","first-page":"1746","DOI":"10.1016\/j.exphem.2006.08.009","volume":"34","author":"WA Bethge","year":"2006","unstructured":"Bethge WA, Haegele M, Faul C, Lang P, Schumm M, Bornhauser M, et al. Haploidentical allogeneic hematopoietic cell transplantation in adults with reduced-intensity conditioning and CD3\/CD19 depletion: fast engraftment and low toxicity. Exp Hematol. 2006;34:1746\u201352. https:\/\/doi.org\/10.1016\/j.exphem.2006.08.009.","journal-title":"Exp Hematol"},{"key":"2839_CR18","doi-asserted-by":"publisher","first-page":"2056","DOI":"10.1016\/j.bbmt.2016.08.006","volume":"22","author":"G Li Pira","year":"2016","unstructured":"Li Pira G, Malaspina D, Girolami E, Biagini S, Cicchetti E, Conflitti G, et al. Selective depletion of \u03b1\u03b2 T cells and B cells for human leukocyte antigen-haploidentical hematopoietic stem cell transplantation. A Three-year follow-up of procedure efficiency. Biol Blood Marrow Transplant. 2016;22:2056\u201364. https:\/\/doi.org\/10.1016\/j.bbmt.2016.08.006.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR19","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/j.hemonc.2017.05.006","volume":"10","author":"W Huang","year":"2017","unstructured":"Huang W, Chao NJ. Memory T cells: a helpful guard for allogeneic hematopoietic stem cell transplantation without causing graft-versus-host disease. Hematol Oncol Stem Cell Ther. 2017;10:211\u20139. https:\/\/doi.org\/10.1016\/j.hemonc.2017.05.006.","journal-title":"Hematol Oncol Stem Cell Ther"},{"key":"2839_CR20","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1038\/s41409-019-0750-7","volume":"55","author":"E Mamcarz","year":"2020","unstructured":"Mamcarz E, Madden R, Qudeimat A, Srinivasan A, Talleur A, Sharma A, et al. Improved survival rate in T-cell depleted haploidentical hematopoietic cell transplantation over the last 15 years at a single institution. Bone Marrow Transplant. 2020;55:929\u201338. https:\/\/doi.org\/10.1038\/s41409-019-0750-7.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR21","doi-asserted-by":"publisher","first-page":"2677","DOI":"10.1172\/jci81229","volume":"125","author":"M Bleakley","year":"2015","unstructured":"Bleakley M, Heimfeld S, Loeb KR, Jones LA, Chaney C, Seropian S, et al. Outcomes of acute leukemia patients transplanted with naive T cell-depleted stem cell grafts. J Clin Invest. 2015;125:2677\u201389. https:\/\/doi.org\/10.1172\/jci81229.","journal-title":"J Clin Invest"},{"key":"2839_CR22","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1007\/s12185-021-03138-2","volume":"114","author":"M Gasior Kabat","year":"2021","unstructured":"Gasior Kabat M, Bueno D, Sisinni L, De Paz R, Mozo Y, Perona R, et al. Selective T-cell depletion targeting CD45RA as a novel approach for HLA-mismatched hematopoietic stem cell transplantation in pediatric nonmalignant hematological diseases. Int J Hematol. 2021;114:116\u201323. https:\/\/doi.org\/10.1007\/s12185-021-03138-2.","journal-title":"Int J Hematol"},{"key":"2839_CR23","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1002\/cac2.12014","volume":"40","author":"FM Zheng","year":"2020","unstructured":"Zheng FM, Zhang X, Li CF, Cheng YF, Gao L, He YL, et al. Haploidentical- versus identical-sibling transplant for high-risk pediatric AML: a multi-center study. Cancer Commun. 2020;40:93\u2013104. https:\/\/doi.org\/10.1002\/cac2.12014.","journal-title":"Cancer Commun"},{"key":"2839_CR24","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.35485","author":"YQ Sun","year":"2025","unstructured":"Sun YQ, Wu LX, Zhang YC, Xu YJ, Huang XB, Ye BD, et al. Comparison of outcomes between haploidentical and matched related donors for chronic myelomonocytic leukemia: a multicenter real-world study. Int J Cancer. 2025. https:\/\/doi.org\/10.1002\/ijc.35485.","journal-title":"Int J Cancer"},{"key":"2839_CR25","doi-asserted-by":"publisher","first-page":"4777","DOI":"10.1158\/1078-0432.Ccr-09-0691","volume":"15","author":"H Xiao-Jun","year":"2009","unstructured":"Xiao-Jun H, Lan-Ping X, Kai-Yan L, Dai-Hong L, Yu W, Huan C, et al. Partially matched related donor transplantation can achieve outcomes comparable with unrelated donor transplantation for patients with hematologic malignancies. Clin Cancer Res. 2009;15:4777\u201383. https:\/\/doi.org\/10.1158\/1078-0432.Ccr-09-0691.","journal-title":"Clin Cancer Res"},{"key":"2839_CR26","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2025.217594","volume":"621","author":"ZL Xu","year":"2025","unstructured":"Xu ZL, Zhang YP, Ye BD, Zhao X, Zhou M, Lu PH, et al. Comparable survival outcomes in HLA-Matched and haploidentical hematopoietic stem cell transplantation for severe aplastic anemia patients aged 40-50: A CBMTR Registry-based propensity score matching analysis over the last decade. Cancer Lett. 2025;621:217594. https:\/\/doi.org\/10.1016\/j.canlet.2025.217594.","journal-title":"Cancer Lett"},{"key":"2839_CR27","doi-asserted-by":"publisher","first-page":"2918","DOI":"10.3324\/haematol.2022.280758","volume":"107","author":"ZL Xu","year":"2022","unstructured":"Xu ZL, Xu LP, Wu DP, Wang SQ, Zhang X, Xi R, et al. Comparable long-term outcomes between upfront haploidentical and identical sibling donor transplant in aplastic anemia: a national registry-based study. Haematologica. 2022;107:2918\u201327. https:\/\/doi.org\/10.3324\/haematol.2022.280758.","journal-title":"Haematologica"},{"key":"2839_CR28","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1182\/blood-2021-146997","volume":"138","author":"MJ McAdams","year":"2021","unstructured":"McAdams MJ, Hyder M, Dimitrova D, Sadler JL, McKeown C, Steinberg SM, et al. Phase I\/II study of reduced dosing of Post-Transplantation Cyclophosphamide (PTCy) after HLA-haploidentical bone marrow transplantation. Blood. 2021;138:101\u2013101. https:\/\/doi.org\/10.1182\/blood-2021-146997.","journal-title":"Blood"},{"key":"2839_CR29","doi-asserted-by":"publisher","first-page":"1575","DOI":"10.1038\/s41409-019-0465-9","volume":"54","author":"JR Passweg","year":"2019","unstructured":"Passweg JR, Baldomero H, Basak GW, Chabannon C, Corbacioglu S, Duarte R, et al. The EBMT activity survey report 2017: a focus on allogeneic HCT for nonmalignant indications and on the use of non-HCT cell therapies. Bone Marrow Transplant. 2019;54:1575\u201385. https:\/\/doi.org\/10.1038\/s41409-019-0465-9.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR30","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1111\/bjh.14225","volume":"175","author":"LP Xu","year":"2016","unstructured":"Xu LP, Wang SQ, Wu DP, Wang JM, Gao SJ, Jiang M, et al. Haplo-identical transplantation for acquired severe aplastic anaemia in a multicentre prospective study. Br J Haematol. 2016;175:265\u201374. https:\/\/doi.org\/10.1111\/bjh.14225.","journal-title":"Br J Haematol"},{"key":"2839_CR31","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1016\/j.bbmt.2014.06.028","volume":"20","author":"J Clay","year":"2014","unstructured":"Clay J, Kulasekararaj AG, Potter V, Grimaldi F, McLornan D, Raj K, et al. Nonmyeloablative peripheral blood haploidentical stem cell transplantation for refractory severe aplastic anemia. Biol Blood Marrow Transplant. 2014;20:1711\u20136. https:\/\/doi.org\/10.1016\/j.bbmt.2014.06.028.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR32","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/s13045-017-0398-y","volume":"10","author":"LP Xu","year":"2017","unstructured":"Xu LP, Jin S, Wang SQ, Xia LH, Bai H, Gao SJ, et al. Upfront haploidentical transplant for acquired severe aplastic anemia: registry-based comparison with matched related transplant. J Hematol Oncol. 2017;10:25 https:\/\/doi.org\/10.1186\/s13045-017-0398-y.","journal-title":"J Hematol Oncol"},{"key":"2839_CR33","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1016\/j.scib.2022.01.024","volume":"67","author":"LP Xu","year":"2022","unstructured":"Xu LP, Xu ZL, Wang SQ, Wu DP, Gao SJ, Yang JM, et al. Long-term follow-up of haploidentical transplantation in relapsed\/refractory severe aplastic anemia: a multicenter prospective study. Sci Bull. 2022;67:963\u201370. https:\/\/doi.org\/10.1016\/j.scib.2022.01.024.","journal-title":"Sci Bull"},{"key":"2839_CR34","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1182\/asheducation-2006.1.63","volume":"2006","author":"A Shimamura","year":"2006","unstructured":"Shimamura A. Inherited bone marrow failure syndromes: molecular features. Hematology. 2006;2006:63\u201371.","journal-title":"Hematology"},{"key":"2839_CR35","doi-asserted-by":"publisher","first-page":"5875","DOI":"10.1038\/sj.onc.1209878","volume":"25","author":"CG Mathew","year":"2006","unstructured":"Mathew CG. Fanconi anaemia genes and susceptibility to cancer. Oncogene. 2006;25:5875\u201384. https:\/\/doi.org\/10.1038\/sj.onc.1209878.","journal-title":"Oncogene"},{"key":"2839_CR36","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.blre.2016.10.002","volume":"31","author":"NE Mamrak","year":"2017","unstructured":"Mamrak NE, Shimamura A, Howlett NG. Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. Blood Reviews. 2017;31:93\u201399. https:\/\/doi.org\/10.1016\/j.blre.2016.10.002.","journal-title":"Blood Reviews"},{"key":"2839_CR37","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1111\/bjh.14615","volume":"178","author":"C Dufour","year":"2017","unstructured":"Dufour C. How I manage patients with Fanconi anaemia. Br J Haematol. 2017;178:32\u201347. https:\/\/doi.org\/10.1111\/bjh.14615.","journal-title":"Br J Haematol"},{"key":"2839_CR38","doi-asserted-by":"publisher","first-page":"3798","DOI":"10.1182\/blood-2015-02-626002","volume":"125","author":"ML MacMillan","year":"2015","unstructured":"MacMillan ML, DeFor TE, Young JA, Dusenbery KE, Blazar BR, Slungaard A, et al. Alternative donor hematopoietic cell transplantation for Fanconi anemia. Blood. 2015;125:3798\u2013804. https:\/\/doi.org\/10.1182\/blood-2015-02-626002.","journal-title":"Blood"},{"key":"2839_CR39","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1111\/j.1365-2141.1980.tb07178.x","volume":"45","author":"E Gluckman","year":"1980","unstructured":"Gluckman E, Devergie A, Schaison G, Bussel A, Berger R, Sohier J, et al. Bone marrow transplantation in Fanconi anaemia. Br J Haematol. 1980;45:557\u201364. https:\/\/doi.org\/10.1111\/j.1365-2141.1980.tb07178.x.","journal-title":"Br J Haematol"},{"key":"2839_CR40","doi-asserted-by":"publisher","first-page":"4279","DOI":"10.1182\/blood-2013-01-479733","volume":"122","author":"R Peffault de Latour","year":"2013","unstructured":"Peffault de Latour R, Porcher R, Dalle JH, Aljurf M, Korthof ET, Svahn J, et al. Allogeneic hematopoietic stem cell transplantation in Fanconi anemia: the European Group for Blood and Marrow Transplantation experience. Blood. 2013;122:4279\u201386. https:\/\/doi.org\/10.1182\/blood-2013-01-479733.","journal-title":"Blood"},{"key":"2839_CR41","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1111\/bjh.15006","volume":"180","author":"M Bierings","year":"2018","unstructured":"Bierings M, Bonfim C, Peffault De Latour R, Aljurf M, Mehta PA, Knol C, et al. Transplant results in adults with Fanconi anaemia. Br J Haematol. 2018;180:100\u20139. https:\/\/doi.org\/10.1111\/bjh.15006.","journal-title":"Br J Haematol"},{"key":"2839_CR42","doi-asserted-by":"publisher","first-page":"1329","DOI":"10.1182\/blood.2023022751","volume":"144","author":"SH Lum","year":"2024","unstructured":"Lum SH, Eikema DJ, Piepenbroek B, Wynn RF, Samarasinghe S, Dalissier A, et al. Outcomes of hematopoietic stem cell transplantation in 813 pediatric patients with Fanconi anemia. Blood. 2024;144:1329\u201342. https:\/\/doi.org\/10.1182\/blood.2023022751.","journal-title":"Blood"},{"key":"2839_CR43","doi-asserted-by":"publisher","first-page":"1333","DOI":"10.1182\/bloodadvances.2020003707","volume":"5","author":"L Strocchio","year":"2021","unstructured":"Strocchio L, Pagliara D, Algeri M, Li Pira G, Rossi F, Bertaina V, et al. HLA-haploidentical TCR\u03b1\u03b2+\/CD19+-depleted stem cell transplantation in children and young adults with Fanconi anemia. Blood Adv. 2021;5:1333\u20139. https:\/\/doi.org\/10.1182\/bloodadvances.2020003707.","journal-title":"Blood Adv"},{"key":"2839_CR44","doi-asserted-by":"publisher","DOI":"10.1111\/petr.14348","volume":"26","author":"D Medina-Valencia","year":"2022","unstructured":"Medina-Valencia D, Aristizabal AM, Beltran E, Franco AA. Fanconi anemia and haploidentical stem cell transplantation. Pediatr Transplant. 2022;26:e14348. https:\/\/doi.org\/10.1111\/petr.14348.","journal-title":"Pediatr Transplant"},{"key":"2839_CR45","doi-asserted-by":"publisher","first-page":"2292","DOI":"10.1016\/j.bbmt.2020.08.019","volume":"26","author":"R Uppuluri","year":"2020","unstructured":"Uppuluri R, Swaminathan VV, Ramanan KM, Meena S, Varla H, Ramakrishnan B, et al. Haploidentical stem cell transplantation with post-transplant cyclophosphamide in Fanconi anemia: improving outcomes with improved supportive care in India. Biol Blood Marrow Transplant. 2020;26:2292\u20138. https:\/\/doi.org\/10.1016\/j.bbmt.2020.08.019.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR46","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1016\/j.bbmt.2016.11.006","volume":"23","author":"C Bonfim","year":"2017","unstructured":"Bonfim C, Ribeiro L, Nichele S, Loth G, Bitencourt M, Koliski A, et al. Haploidentical bone marrow transplantation with post-transplant cyclophosphamide for children and adolescents with Fanconi anemia. Biol Blood Marrow Transplant. 2017;23:310\u20137. https:\/\/doi.org\/10.1016\/j.bbmt.2016.11.006.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR47","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1111\/bjh.18408","volume":"199","author":"L Xu","year":"2022","unstructured":"Xu L, Lu Y, Hu S, Li C, Tang Y, Wang H, et al. Unmanipulated haploidentical haematopoietic cell transplantation with radiation-free conditioning in Fanconi anaemia: a retrospective analysis from the Chinese blood and marrow transplantation registry group. Br J Haematol. 2022;199:401\u201310. https:\/\/doi.org\/10.1111\/bjh.18408.","journal-title":"Br J Haematol"},{"key":"2839_CR48","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1182\/blood-2023-178400","volume":"142","author":"R Agarwal","year":"2023","unstructured":"Agarwal R, Bertaina A, Soco CF, Saini G, Kunte N, Hiroshima L, et al. Radiation and busulfan-free hematopoietic stem cell transplantation using briquilimab (JSP191) anti-CD117 antibody-conditioning, transient immunosuppression and TCR\u03b1\u03b2 + T-cell\/CD19 + B-cell depleted haploidentical grafts in patients with Fanconi anemia. Blood. 2023;142:229 https:\/\/doi.org\/10.1182\/blood-2023-178400.","journal-title":"Blood"},{"key":"2839_CR49","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2023.1236038","volume":"13","author":"SV Bhoopalan","year":"2023","unstructured":"Bhoopalan SV, Suryaprakash S, Sharma A, Wlodarski MW. Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science. Front Oncol. 2023;13:1236038. https:\/\/doi.org\/10.3389\/fonc.2023.1236038.","journal-title":"Front Oncol"},{"key":"2839_CR50","doi-asserted-by":"publisher","first-page":"327","DOI":"10.2174\/1566523218666181109124538","volume":"18","author":"A Aspesi","year":"2018","unstructured":"Aspesi A, Borsotti C, Follenzi A. Emerging therapeutic approaches for diamond blackfan anemia. Curr Gene Ther. 2018;18:327\u201335. https:\/\/doi.org\/10.2174\/1566523218666181109124538.","journal-title":"Curr Gene Ther"},{"key":"2839_CR51","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1111\/j.1399-3046.2006.00616.x","volume":"11","author":"H Mugishima","year":"2007","unstructured":"Mugishima H, Ohga S, Ohara A, Kojima S, Fujisawa K, Tsukimoto I. Hematopoietic stem cell transplantation for Diamond-Blackfan anemia: a report from the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology. Pediatr Transplant. 2007;11:601\u20137. https:\/\/doi.org\/10.1111\/j.1399-3046.2006.00616.x.","journal-title":"Pediatr Transplant"},{"key":"2839_CR52","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1111\/bjh.12787","volume":"165","author":"F Fagioli","year":"2014","unstructured":"Fagioli F, Quarello P, Zecca M, Lanino E, Corti P, Favre C, et al. 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\u201381. https:\/\/doi.org\/10.1111\/bjh.12787.","journal-title":"Br J Haematol"},{"key":"2839_CR53","doi-asserted-by":"crossref","unstructured":"Katewa S. Successful T cell replete haploidentical peripheral blood hematopoietic stem cell transplantation in a young girl with Diamond-Blackfan anemia. Pediatr Neonatal Biol Open Access. 2018:3;1.","DOI":"10.23880\/PNBOA-16000113"},{"key":"2839_CR54","doi-asserted-by":"publisher","first-page":"2387","DOI":"10.1111\/bjh.19831","volume":"205","author":"G Loth","year":"2024","unstructured":"Loth G, Dumke CCK, Muratori RR, Pelegrina PD, Peixoto CMA, Bach JLM, et al. Haematopoietic cell transplantation for 106 infants and preschoolers with acquired and inherited bone marrow failures. Br J Haematol. 2024;205:2387\u2013402. https:\/\/doi.org\/10.1111\/bjh.19831.","journal-title":"Br J Haematol"},{"key":"2839_CR55","doi-asserted-by":"publisher","first-page":"1805","DOI":"10.1016\/j.ymthe.2017.04.002","volume":"25","author":"S Debnath","year":"2017","unstructured":"Debnath S, Jaako P, Siva K, Rothe M, Chen J, Dahl M, et al. Lentiviral vectors with cellular promoters correct anemia and lethal bone marrow failure in a mouse model for Diamond-Blackfan Anemia. Mol Ther. 2017;25:1805\u201314. https:\/\/doi.org\/10.1016\/j.ymthe.2017.04.002.","journal-title":"Mol Ther"},{"key":"2839_CR56","doi-asserted-by":"publisher","first-page":"1048","DOI":"10.1086\/319505","volume":"68","author":"S Goobie","year":"2001","unstructured":"Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, et al. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet. 2001;68:1048\u201354. https:\/\/doi.org\/10.1086\/319505.","journal-title":"Am J Hum Genet"},{"key":"2839_CR57","doi-asserted-by":"publisher","first-page":"e238","DOI":"10.1016\/s2352-3026(19)30206-6","volume":"7","author":"KC Myers","year":"2020","unstructured":"Myers KC, Furutani E, Weller E, Siegele B, Galvin A, Arsenault V, et al. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. Lancet Haematol. 2020;7:e238\u2013e46. https:\/\/doi.org\/10.1016\/s2352-3026(19)30206-6.","journal-title":"Lancet Haematol"},{"key":"2839_CR58","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1016\/j.jtct.2022.07.010","volume":"28","author":"S Cesaro","year":"2022","unstructured":"Cesaro S, Donadieu J, Cipolli M, Dalle JH, Styczynski J, Masetti R, et al. Stem cell transplantation in patients affected by Shwachman-Diamond syndrome: expert consensus and recommendations from the EBMT severe aplastic anaemia working party. Transplant Cell Ther. 2022;28:637\u201349. https:\/\/doi.org\/10.1016\/j.jtct.2022.07.010.","journal-title":"Transplant Cell Ther"},{"key":"2839_CR59","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1111\/j.1365-2141.2005.05758.x","volume":"131","author":"S Cesaro","year":"2005","unstructured":"Cesaro S, Oneto R, Messina C, Gibson BE, Buzyn A, Steward C, et al. Haematopoietic stem cell transplantation for Shwachman\u2013Diamond disease: a study from the European Group for blood and marrow transplantation. Br J Haematol. 2005;131:231\u20136. https:\/\/doi.org\/10.1111\/j.1365-2141.2005.05758.x.","journal-title":"Br J Haematol"},{"key":"2839_CR60","doi-asserted-by":"publisher","first-page":"1796","DOI":"10.1038\/s41409-020-0863-z","volume":"55","author":"S Cesaro","year":"2020","unstructured":"Cesaro S, Pillon M, Sauer M, Smiers F, Faraci M, de Heredia CD, et al. Long-term outcome after allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: a retrospective analysis and a review of the literature by the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation (SAAWP-EBMT). Bone Marrow Transplant. 2020;55:1796\u2013809. https:\/\/doi.org\/10.1038\/s41409-020-0863-z.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR61","doi-asserted-by":"publisher","first-page":"1446","DOI":"10.1016\/j.bbmt.2020.04.029","volume":"26","author":"K Myers","year":"2020","unstructured":"Myers K, Hebert K, Antin J, Boulad F, Burroughs L, Hofmann I, et al. Hematopoietic Stem Cell Transplantation for Shwachman-Diamond syndrome. Biol Blood Marrow Transplant. 2020;26:1446\u201351. https:\/\/doi.org\/10.1016\/j.bbmt.2020.04.029.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR62","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1080\/15476286.2015.1094596","volume":"13","author":"AA Bertuch","year":"2016","unstructured":"Bertuch AA. The molecular genetics of the telomere biology disorders. RNA Biol. 2016;13:696\u2013706. https:\/\/doi.org\/10.1080\/15476286.2015.1094596.","journal-title":"RNA Biol"},{"key":"2839_CR63","doi-asserted-by":"publisher","first-page":"5607","DOI":"10.1182\/blood-2010-11-322149","volume":"117","author":"EM Parry","year":"2011","unstructured":"Parry EM, Alder JK, Qi X, Chen JJ, Armanios M. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood. 2011;117:5607\u201311. https:\/\/doi.org\/10.1182\/blood-2010-11-322149.","journal-title":"Blood"},{"key":"2839_CR64","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1016\/j.bbmt.2016.03.001","volume":"22","author":"P Barbaro","year":"2016","unstructured":"Barbaro P, Vedi A. Survival after hematopoietic stem cell transplant in patients with dyskeratosis congenita: systematic review of the literature. Biol Blood Marrow Transplant. 2016;22:1152\u20138. https:\/\/doi.org\/10.1016\/j.bbmt.2016.03.001.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR65","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1080\/16078454.2021.1876393","volume":"26","author":"Y Lu","year":"2021","unstructured":"Lu Y, Xiong M, Sun RJ, Zhao YL, Zhang JP, Cao XY, et al. Hematopoietic stem cell transplantation for inherited bone marrow failure syndromes: alternative donor and disease-specific conditioning regimen with unmanipulated grafts. Hematology. 2021;26:134\u201343. https:\/\/doi.org\/10.1080\/16078454.2021.1876393.","journal-title":"Hematology"},{"key":"2839_CR66","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.1002\/ajh.27006","volume":"98","author":"KM Musallam","year":"2023","unstructured":"Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, et al. Epidemiology of clinically significant forms of alpha- and beta-thalassemia: a global map of evidence and gaps. Am J Hematol. 2023;98:1436\u201351. https:\/\/doi.org\/10.1002\/ajh.27006.","journal-title":"Am J Hematol"},{"key":"2839_CR67","doi-asserted-by":"publisher","unstructured":"Colombatti R, Hegemann I, Medici M, Birkeg\u00e5rd C. Systematic literature review shows gaps in data on global prevalence and birth prevalence of sickle cell disease and sickle cell trait: call for action to scale up and harmonize data collection. J Clin Med. 2023;12 https:\/\/doi.org\/10.3390\/jcm12175538","DOI":"10.3390\/jcm12175538"},{"key":"2839_CR68","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1056\/nejm199002153220701","volume":"322","author":"G Lucarelli","year":"1990","unstructured":"Lucarelli G, Galimberti M, Polchi P, Angelucci E, Baronciani D, Giardini C, et al. Bone marrow transplantation in patients with thalassemia. N Engl J Med. 1990;322:417\u201321. https:\/\/doi.org\/10.1056\/nejm199002153220701.","journal-title":"N Engl J Med"},{"key":"2839_CR69","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1038\/bmt.2015.293","volume":"51","author":"D Baronciani","year":"2016","unstructured":"Baronciani D, Angelucci E, Potschger U, Gaziev J, Yesilipek A, Zecca M, et al. Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000-10. Bone Marrow Transplant. 2016;51:536\u201341. https:\/\/doi.org\/10.1038\/bmt.2015.293.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR70","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1097\/moh.0000000000000867","volume":"32","author":"N Scaramellini","year":"2025","unstructured":"Scaramellini N, Panzieri DL, Cappellini MD. Gene therapy for sickle cell disease and thalassemia. Curr Opin Hematol. 2025;32:120\u20139. https:\/\/doi.org\/10.1097\/moh.0000000000000867.","journal-title":"Curr Opin Hematol"},{"key":"2839_CR71","doi-asserted-by":"publisher","first-page":"1651","DOI":"10.1002\/ajh.27758","volume":"100","author":"R Origa","year":"2025","unstructured":"Origa R, Gianesin B, Zappu A, Denotti AR, Di Giorgio MA, Sciortino R, et al. Luspatercept for transfusion-dependent beta-thalassemia: real-world experience in a large cohort of patients from Italy. Am J Hematol. 2025;100:1651\u20135. https:\/\/doi.org\/10.1002\/ajh.27758.","journal-title":"Am J Hematol"},{"key":"2839_CR72","doi-asserted-by":"publisher","first-page":"2066","DOI":"10.1016\/j.bbmt.2014.07.016","volume":"20","author":"U Anurathapan","year":"2014","unstructured":"Anurathapan U, Pakakasama S, Mekjaruskul P, Sirachainan N, Songdej D, Chuansumrit A, et al. Outcomes of thalassemia patients undergoing hematopoietic stem cell transplantation by using a standard myeloablative versus a novel reduced-toxicity conditioning regimen according to a new risk stratification. Biol Blood Marrow Transplant. 2014;20:2066\u201371. https:\/\/doi.org\/10.1016\/j.bbmt.2014.07.016.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR73","doi-asserted-by":"publisher","first-page":"1106","DOI":"10.1016\/j.bbmt.2020.01.002","volume":"26","author":"U Anurathapan","year":"2020","unstructured":"Anurathapan U, Hongeng S, Pakakasama S, Songdej D, Sirachainan N, Pongphitcha P, et al. Hematopoietic stem cell transplantation for severe thalassemia patients from haploidentical donors using a novel conditioning regimen. Biol Blood Marrow Transplant. 2020;26:1106\u201312. https:\/\/doi.org\/10.1016\/j.bbmt.2020.01.002.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR74","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1080\/03630269.2022.2059671","volume":"46","author":"U Anurathapan","year":"2022","unstructured":"Anurathapan U, Pakakasama S, Songdej D, Pongphitcha P, Chuansumrit A, Andersson BS, et al. Haploidentical hematopoietic stem cell transplantation in thalassemia. Hemoglobin. 2022;46:2\u20136. https:\/\/doi.org\/10.1080\/03630269.2022.2059671.","journal-title":"Hemoglobin"},{"key":"2839_CR75","doi-asserted-by":"publisher","first-page":"1552","DOI":"10.21037\/tp-20-415","volume":"10","author":"C Huang","year":"2021","unstructured":"Huang C, Qu Y, Liu S, Nie S, Jiang H. Hematopoietic stem cell transplantation for thalassemia major using HLA fully-matched and mismatched donor grafts. Transl Pediatr. 2021;10:1552\u201365. https:\/\/doi.org\/10.21037\/tp-20-415.","journal-title":"Transl Pediatr"},{"key":"2839_CR76","doi-asserted-by":"publisher","first-page":"1108","DOI":"10.1038\/s41409-022-01663-0","volume":"57","author":"H Liang","year":"2022","unstructured":"Liang H, Pan L, Xie Y, Fan J, Zhai L, Liang S, et al. Health-related quality of life in pediatric patients with \u03b2-thalassemia major after hematopoietic stem cell transplantation. Bone Marrow Transplant. 2022;57:1108\u201315. https:\/\/doi.org\/10.1038\/s41409-022-01663-0.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR77","doi-asserted-by":"publisher","first-page":"1296","DOI":"10.1182\/blood-2009-05-218982","volume":"115","author":"P Sodani","year":"2010","unstructured":"Sodani P, Isgr\u00f2 A, Gaziev J, Polchi P, Paciaroni K, Marziali M, et al. Purified T-depleted, CD34+ peripheral blood and bone marrow cell transplantation from haploidentical mother to child with thalassemia. Blood. 2010;115:1296\u2013302. https:\/\/doi.org\/10.1182\/blood-2009-05-218982.","journal-title":"Blood"},{"key":"2839_CR78","doi-asserted-by":"publisher","first-page":"1557","DOI":"10.1016\/j.bbmt.2010.05.003","volume":"16","author":"A Isgr\u00f2","year":"2010","unstructured":"Isgr\u00f2 A, Marziali M, Sodani P, Gaziev J, Erer B, Polchi P, et al. Immunohematologic reconstitution in pediatric patients after T cell-depleted HLA-haploidentical stem cell transplantation for thalassemia. Biol Blood Marrow Transplant. 2010;16:1557\u201366. https:\/\/doi.org\/10.1016\/j.bbmt.2010.05.003.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR79","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1182\/bloodadvances.2017012005","volume":"2","author":"J Gaziev","year":"2018","unstructured":"Gaziev J, Isgr\u00f2 A, Sodani P, Paciaroni K, De Angelis G, Marziali M, et al. Haploidentical HSCT for hemoglobinopathies: improved outcomes with TCR\u03b1\u03b2(+)\/CD19(+)-depleted grafts. Blood Adv. 2018;2:263\u201370. https:\/\/doi.org\/10.1182\/bloodadvances.2017012005.","journal-title":"Blood Adv"},{"key":"2839_CR80","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1038\/s41409-025-02546-w","volume":"60","author":"K Kleinschmidt","year":"2025","unstructured":"Kleinschmidt K, Penkivech G, Troeger A, Foell J, Hanafee-Alali T, Leszczak S, et al. \u03b1\u00df T-cell depleted haploidentical stem cell transplantation for pediatric and young adult patients with transfusion-dependent thalassemia. Bone Marrow Transplant. 2025;60:682\u20139. https:\/\/doi.org\/10.1038\/s41409-025-02546-w.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR81","doi-asserted-by":"publisher","DOI":"10.1111\/petr.13893","volume":"25","author":"V Vellaichamy Swaminathan","year":"2021","unstructured":"Vellaichamy Swaminathan V, Ravichandran N, Ramanan KM, Meena SK, Varla H, Ramakrishnan B, et al. Augmented immunosuppression and PTCY-based haploidentical hematopoietic stem cell transplantation for thalassemia major. Pediatr Transplant. 2021;25:e13893. https:\/\/doi.org\/10.1111\/petr.13893.","journal-title":"Pediatr Transplant"},{"key":"2839_CR82","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1111\/bjh.18520","volume":"200","author":"J Hu","year":"2023","unstructured":"Hu J, Gong S, Chen K, Yang R, Wang L, Yang K, et al. Haploidentical transplant for paediatric patients with severe thalassaemia using post-transplant cyclophosphamide and methotrexate: a prospectively registered multicentre trial from the Bone Marrow Failure Working Group of Hunan Province, China. Br J Haematol. 2023;200:329\u201337. https:\/\/doi.org\/10.1111\/bjh.18520.","journal-title":"Br J Haematol"},{"key":"2839_CR83","doi-asserted-by":"publisher","first-page":"e183","DOI":"10.1016\/S2352-3026(19)30031-6","volume":"6","author":"J Bola\u00f1os-Meade","year":"2019","unstructured":"Bola\u00f1os-Meade J, Cooke KR, Gamper CJ, Ali SA, Ambinder RF, Borrello IM, et al. Effect of increased dose of total body irradiation on graft failure associated with HLA-haploidentical transplantation in patients with severe haemoglobinopathies: a prospective clinical trial. Lancet Haematol. 2019;6:e183\u2013e93. https:\/\/doi.org\/10.1016\/S2352-3026(19)30031-6.","journal-title":"Lancet Haematol"},{"key":"2839_CR84","doi-asserted-by":"publisher","first-page":"2203","DOI":"10.1038\/s41409-021-01302-0","volume":"56","author":"LVE Oostenbrink","year":"2021","unstructured":"Oostenbrink LVE, Pool ES, Jol-van der Zijde CM, Jansen-Hoogendijk AM, Vervat C, van Halteren AGS, et al. Successful mismatched hematopoietic stem cell transplantation for pediatric hemoglobinopathy by using ATG and post-transplant cyclophosphamide. Bone Marrow Transplant. 2021;56:2203\u201311. https:\/\/doi.org\/10.1038\/s41409-021-01302-0.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR85","doi-asserted-by":"publisher","first-page":"1635","DOI":"10.1038\/s41409-021-01233-w","volume":"56","author":"X Lai","year":"2021","unstructured":"Lai X, Liu L, Zhang Z, Shi L, Yang G, Wu M, et al. Hepatic veno-occlusive disease\/sinusoidal obstruction syndrome after hematopoietic stem cell transplantation for thalassemia major: incidence, management, and outcome. Bone Marrow Transplant. 2021;56:1635\u201341. https:\/\/doi.org\/10.1038\/s41409-021-01233-w.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR86","doi-asserted-by":"publisher","first-page":"2533","DOI":"10.21037\/tp-2025-325","volume":"14","author":"Y Zhou","year":"2025","unstructured":"Zhou Y, Zhang L, Meng Y, Lei X, Jia L, Guan X, et al. Immune cell reconstitution after allogeneic hematopoietic stem cell transplantation in children with \u03b2-thalassemia major. Transl Pediatr. 2025;14:2533\u201345. https:\/\/doi.org\/10.21037\/tp-2025-325.","journal-title":"Transl Pediatr"},{"key":"2839_CR87","doi-asserted-by":"publisher","first-page":"259","DOI":"10.12669\/pjms.40.3.7901","volume":"40","author":"H Nisar","year":"2024","unstructured":"Nisar H, Khan M, Khattak TA, Ghafoor T, Chaudhry QUN. Incidence, management and outcome of hepatic veno-occlusive disease\/sinusoidal obstruction syndrome after hematopoietic stem cell transplant in Thalassemia major patients: a prospective study of Pakistani BMT. Pak J Med Sci. 2024;40:259\u201364. https:\/\/doi.org\/10.12669\/pjms.40.3.7901.","journal-title":"Pak J Med Sci"},{"key":"2839_CR88","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1038\/180326a0","volume":"180","author":"VM Ingram","year":"1957","unstructured":"Ingram VM. Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. Nature. 1957;180:326\u20138. https:\/\/doi.org\/10.1038\/180326a0.","journal-title":"Nature"},{"key":"2839_CR89","doi-asserted-by":"publisher","first-page":"e1001484","DOI":"10.1371\/journal.pmed.1001484","volume":"10","author":"FB Piel","year":"2013","unstructured":"Piel FB, Hay SI, Gupta S, Weatherall DJ, Williams TN. Global burden of sickle cell anaemia in children under five, 2010-50: modelling based on demographics, excess mortality, and interventions. PLoS Med. 2013;10:e1001484 https:\/\/doi.org\/10.1371\/journal.pmed.1001484.","journal-title":"PLoS Med"},{"key":"2839_CR90","doi-asserted-by":"publisher","first-page":"1195","DOI":"10.1136\/adc.66.10.1195","volume":"66","author":"C Vermylen","year":"1991","unstructured":"Vermylen C, Cornu G, Philippe M, Ninane J, Borja A, Latinne D, et al. Bone marrow transplantation in sickle cell anaemia. Arch Dis Child. 1991;66:1195\u20138. https:\/\/doi.org\/10.1136\/adc.66.10.1195.","journal-title":"Arch Dis Child"},{"key":"2839_CR91","doi-asserted-by":"publisher","first-page":"1548","DOI":"10.1182\/blood-2016-10-745711","volume":"129","author":"E Gluckman","year":"2017","unstructured":"Gluckman E, Cappelli B, Bernaudin F, Labopin M, Volt F, Carreras J, et al. Sickle cell disease: an international survey of results of HLA-identical sibling hematopoietic stem cell transplantation. Blood. 2017;129:1548\u201356. https:\/\/doi.org\/10.1182\/blood-2016-10-745711.","journal-title":"Blood"},{"key":"2839_CR92","doi-asserted-by":"publisher","first-page":"1072","DOI":"10.1182\/blood-2013-03-489112","volume":"122","author":"F Locatelli","year":"2013","unstructured":"Locatelli F, Kabbara N, Ruggeri A, Ghavamzadeh A, Roberts I, Li CK, et al. Outcome of patients with hemoglobinopathies given either cord blood or bone marrow transplantation from an HLA-identical sibling. Blood. 2013;122:1072\u20138. https:\/\/doi.org\/10.1182\/blood-2013-03-489112.","journal-title":"Blood"},{"key":"2839_CR93","doi-asserted-by":"publisher","first-page":"2309","DOI":"10.1056\/NEJMoa0904971","volume":"361","author":"MM Hsieh","year":"2009","unstructured":"Hsieh MM, Kang EM, Fitzhugh CD, Link MB, Bolan CD, Kurlander R, et al. Allogeneic hematopoietic stem-cell transplantation for sickle cell disease. N Engl J Med. 2009;361:2309\u201317. https:\/\/doi.org\/10.1056\/NEJMoa0904971.","journal-title":"N Engl J Med"},{"key":"2839_CR94","doi-asserted-by":"publisher","first-page":"1587","DOI":"10.1016\/j.bbmt.2017.05.027","volume":"23","author":"A Abraham","year":"2017","unstructured":"Abraham A, Cluster A, Jacobsohn D, Delgado D, Hulbert ML, Kukadiya D, et al. Unrelated umbilical cord blood transplantation for sickle cell disease following reduced-intensity conditioning: results of a phase I trial. Biol Blood Marrow Transplant. 2017;23:1587\u201392. https:\/\/doi.org\/10.1016\/j.bbmt.2017.05.027.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR95","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.1016\/j.bbmt.2019.02.011","volume":"25","author":"GMT Guilcher","year":"2019","unstructured":"Guilcher GMT, Monagel DA, Nettel-Aguirre A, Truong TH, Desai SJ, Bruce A, et al. Nonmyeloablative matched sibling donor hematopoietic cell transplantation in children and adolescents with sickle cell disease. Biol Blood Marrow Transplant. 2019;25:1179\u201386. https:\/\/doi.org\/10.1016\/j.bbmt.2019.02.011.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR96","doi-asserted-by":"publisher","first-page":"1270","DOI":"10.1016\/j.bbmt.2008.08.016","volume":"14","author":"L Krishnamurti","year":"2008","unstructured":"Krishnamurti L, Kharbanda S, Biernacki MA, Zhang W, Baker KS, Wagner JE, et al. Stable long-term donor engraftment following reduced-intensity hematopoietic cell transplantation for sickle cell disease. Biol Blood Marrow Transplant. 2008;14:1270\u20138. https:\/\/doi.org\/10.1016\/j.bbmt.2008.08.016.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR97","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1016\/j.bbmt.2015.08.036","volume":"22","author":"SL Saraf","year":"2016","unstructured":"Saraf SL, Oh AL, Patel PR, Jalundhwala Y, Sweiss K, Koshy M, et al. Nonmyeloablative stem cell transplantation with alemtuzumab\/low-dose irradiation to cure and improve the quality of life of adults with sickle cell disease. Biol Blood Marrow Transplant. 2016;22:441\u20138. https:\/\/doi.org\/10.1016\/j.bbmt.2015.08.036.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR98","doi-asserted-by":"publisher","first-page":"1859","DOI":"10.1038\/s41409-019-0550-0","volume":"54","author":"J Foell","year":"2019","unstructured":"Foell J, Schulte JH, Pfirstinger B, Troeger A, Wolff D, Edinger M, et al. Haploidentical CD3 or \u03b1\/\u03b2 T-cell depleted HSCT in advanced stage sickle cell disease. Bone Marrow Transplant. 2019;54:1859\u201367. https:\/\/doi.org\/10.1038\/s41409-019-0550-0.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR99","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1016\/j.bbmt.2017.08.039","volume":"24","author":"AB Pawlowska","year":"2018","unstructured":"Pawlowska AB, Cheng JC, Karras NA, Sun W, Wang LD, Bell AD, et al. HLA haploidentical stem cell transplant with pretransplant immunosuppression for patients with sickle cell disease. Biol Blood Marrow Transplant. 2018;24:185\u20139. https:\/\/doi.org\/10.1016\/j.bbmt.2017.08.039.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR100","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1038\/s41409-017-0077-1","volume":"53","author":"H Frangoul","year":"2018","unstructured":"Frangoul H, Evans M, Isbell J, Bruce K, Domm J. Haploidentical hematopoietic stem cell transplant for patients with sickle cell disease using thiotepa, fludarabine, thymoglobulin, low dose cyclophosphamide, 200 cGy TBI and post transplant cyclophosphamide. Bone Marrow Transplant. 2018;53:647\u201350. https:\/\/doi.org\/10.1038\/s41409-017-0077-1.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR101","doi-asserted-by":"publisher","first-page":"S80","DOI":"10.1016\/j.bbmt.2016.12.030","volume":"23","author":"S Bhat","year":"2017","unstructured":"Bhat S, Ngangbam S, Iqbal W, Badiger S, Damodar S, Nataraj KS, et al. A novel pre-transplant immunosuppressive preparative regimen for myeloablative haploidentical and unrelated donor hematopoietic transplant in hemoglobinopathies: a safe and effective approach. Biol Blood Marrow Transplant. 2017;23:S80 https:\/\/doi.org\/10.1016\/j.bbmt.2016.12.030.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR102","doi-asserted-by":"publisher","first-page":"4285","DOI":"10.1182\/blood-2012-07-438408","volume":"120","author":"J Bola\u00f1os-Meade","year":"2012","unstructured":"Bola\u00f1os-Meade J, Fuchs EJ, Luznik L, Lanzkron SM, Gamper CJ, Jones RJ, et al. HLA-haploidentical bone marrow transplantation with posttransplant cyclophosphamide expands the donor pool for patients with sickle cell disease. Blood. 2012;120:4285\u201391. https:\/\/doi.org\/10.1182\/blood-2012-07-438408.","journal-title":"Blood"},{"key":"2839_CR103","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1016\/j.bbmt.2018.11.027","volume":"25","author":"J de la Fuente","year":"2019","unstructured":"de la Fuente J, Dhedin N, Koyama T, Bernaudin F, Kuentz M, Karnik L, et al. Haploidentical bone marrow transplantation with post-transplantation cyclophosphamide plus thiotepa improves donor engraftment in patients with sickle cell anemia: results of an international learning collaborative. Biol Blood Marrow Transplant. 2019;25:1197\u2013209. https:\/\/doi.org\/10.1016\/j.bbmt.2018.11.027.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR104","doi-asserted-by":"publisher","first-page":"1473","DOI":"10.1007\/s10875-022-01289-3","volume":"42","author":"SG Tangye","year":"2022","unstructured":"Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies expert committee. J Clin Immunol. 2022;42:1473\u2013507. https:\/\/doi.org\/10.1007\/s10875-022-01289-3.","journal-title":"J Clin Immunol"},{"key":"2839_CR105","doi-asserted-by":"publisher","unstructured":"Notarangelo LD, Bacchetta R, Casanova JL, Su HC. Human inborn errors of immunity: an expanding universe. Sci Immunol 2020;5. https:\/\/doi.org\/10.1126\/sciimmunol.abb1662.","DOI":"10.1126\/sciimmunol.abb1662"},{"key":"2839_CR106","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1111\/imr.13310","volume":"322","author":"CS Aranda","year":"2024","unstructured":"Aranda CS, Gouveia-Pereira MP, da Silva CJM, Rizzo M, Ishizuka E, de Oliveira EB, et al. Severe combined immunodeficiency diagnosis and genetic defects. Immunol Rev. 2024;322:138\u201347. https:\/\/doi.org\/10.1111\/imr.13310.","journal-title":"Immunol Rev"},{"key":"2839_CR107","first-page":"184","volume":"24","author":"JT Mazzucchelli","year":"2014","unstructured":"Mazzucchelli JT, Bonfim C, Castro GG, Condino-Neto AA, Costa NM, Cunha L, et al. Severe combined immunodeficiency in Brazil: management, prognosis, and BCG-associated complications. J Investig Allergol Clin Immunol. 2014;24:184\u201391.","journal-title":"J Investig Allergol Clin Immunol"},{"key":"2839_CR108","doi-asserted-by":"publisher","first-page":"1366","DOI":"10.1016\/s0140-6736(68)92673-1","volume":"2","author":"RA Gatti","year":"1968","unstructured":"Gatti RA, Meuwissen HJ, Allen HD, Hong R, Good RA. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet. 1968;2:1366\u20139. https:\/\/doi.org\/10.1016\/s0140-6736(68)92673-1.","journal-title":"Lancet"},{"key":"2839_CR109","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1016\/j.jaci.2014.06.021","volume":"134","author":"CC Dvorak","year":"2014","unstructured":"Dvorak CC, Hassan A, Slatter MA, H\u00f6nig M, Lankester AC, Buckley RH, et al. Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. J Allergy Clin Immunol. 2014;134:935\u201343.e915. https:\/\/doi.org\/10.1016\/j.jaci.2014.06.021.","journal-title":"J Allergy Clin Immunol"},{"key":"2839_CR110","doi-asserted-by":"publisher","first-page":"1744","DOI":"10.1016\/j.jaci.2021.10.017","volume":"149","author":"AC Lankester","year":"2022","unstructured":"Lankester AC, Neven B, Mahlaoui N, von Asmuth EGJ, Courteille V, Alligon M, et al. Hematopoietic cell transplantation in severe combined immunodeficiency: the SCETIDE 2006-14 European cohort. J Allergy Clin Immunol. 2022;149:1744\u201354.e1748. https:\/\/doi.org\/10.1016\/j.jaci.2021.10.017.","journal-title":"J Allergy Clin Immunol"},{"key":"2839_CR111","doi-asserted-by":"publisher","first-page":"1737","DOI":"10.1182\/blood-2018-03-840702","volume":"132","author":"E Haddad","year":"2018","unstructured":"Haddad E, Logan BR, Griffith LM, Buckley RH, Parrott RE, Prockop SE, et al. SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery. Blood. 2018;132:1737\u201349. https:\/\/doi.org\/10.1182\/blood-2018-03-840702.","journal-title":"Blood"},{"key":"2839_CR112","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1007\/s10875-019-00610-x","volume":"39","author":"A Ikinciogullari","year":"2019","unstructured":"Ikinciogullari A, Cagdas D, Dogu F, Tugrul T, Karasu G, Haskologlu S, et al. Clinical features and HSCT outcome for SCID in Turkey. J Clin Immunol. 2019;39:316\u201323. https:\/\/doi.org\/10.1007\/s10875-019-00610-x.","journal-title":"J Clin Immunol"},{"key":"2839_CR113","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1056\/NEJMoa1401177","volume":"371","author":"SY Pai","year":"2014","unstructured":"Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med. 2014;371:434\u201346. https:\/\/doi.org\/10.1056\/NEJMoa1401177.","journal-title":"N Engl J Med"},{"key":"2839_CR114","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1016\/s0140-6736(23)00731-6","volume":"402","author":"MS Thakar","year":"2023","unstructured":"Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, 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. 2023;402:129\u201340. https:\/\/doi.org\/10.1016\/s0140-6736(23)00731-6.","journal-title":"Lancet"},{"key":"2839_CR115","doi-asserted-by":"publisher","first-page":"2949","DOI":"10.1182\/blood-2011-06-363572","volume":"119","author":"JF Fernandes","year":"2012","unstructured":"Fernandes JF, Rocha V, Labopin M, Neven B, Moshous D, Gennery AR, et al. Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?. Blood. 2012;119:2949\u201355. https:\/\/doi.org\/10.1182\/blood-2011-06-363572.","journal-title":"Blood"},{"key":"2839_CR116","doi-asserted-by":"publisher","first-page":"1200","DOI":"10.1038\/s41409-020-01152-2","volume":"56","author":"SH Lum","year":"2021","unstructured":"Lum SH, Sobh A, Carruthers K, Nademi Z, Watson H, McNaughton P, et al. Improved survival and graft function in ex vivo T-cell depleted haploidentical hematopoietic cell transplantation for primary immunodeficiency. Bone Marrow Transplant. 2021;56:1200\u20134. https:\/\/doi.org\/10.1038\/s41409-020-01152-2.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR117","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1182\/blood-2014-03-563817","volume":"124","author":"A Bertaina","year":"2014","unstructured":"Bertaina A, Merli P, Rutella S, Pagliara D, Bernardo ME, Masetti R, et al. HLA-haploidentical stem cell transplantation after removal of \u03b1\u03b2+ T and B cells in children with nonmalignant disorders. Blood. 2014;124:822\u20136. https:\/\/doi.org\/10.1182\/blood-2014-03-563817.","journal-title":"Blood"},{"key":"2839_CR118","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1182\/bloodadvances.2021005628","volume":"6","author":"P Merli","year":"2022","unstructured":"Merli P, Pagliara D, Galaverna F, Li Pira G, Andreani M, Leone G, et al. TCR\u03b1\u03b2\/CD19 depleted HSCT from an HLA-haploidentical relative to treat children with different nonmalignant disorders. Blood Adv. 2022;6:281\u201392.","journal-title":"Blood Adv"},{"key":"2839_CR119","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1016\/j.jaci.2006.02.005","volume":"117","author":"HD Ochs","year":"2006","unstructured":"Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol. 2006;117:725\u201338. https:\/\/doi.org\/10.1016\/j.jaci.2006.02.005.","journal-title":"J Allergy Clin Immunol"},{"key":"2839_CR120","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1016\/0092-8674(94)90528-2","volume":"78","author":"JMJ Derry","year":"1994","unstructured":"Derry JMJ, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;78:635\u201344. https:\/\/doi.org\/10.1016\/0092-8674(94)90528-2.","journal-title":"Cell"},{"key":"2839_CR121","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/j.iac.2010.02.001","volume":"30","author":"SY Pai","year":"2010","unstructured":"Pai SY, Notarangelo LD. Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment. Immunol Allergy Clin North Am. 2010;30:179\u201394. https:\/\/doi.org\/10.1016\/j.iac.2010.02.001.","journal-title":"Immunol Allergy Clin North Am"},{"key":"2839_CR122","doi-asserted-by":"publisher","first-page":"2094","DOI":"10.1182\/blood.2019002939","volume":"135","author":"LM Burroughs","year":"2020","unstructured":"Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, et al. Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report. Blood. 2020;135:2094\u2013105. https:\/\/doi.org\/10.1182\/blood.2019002939.","journal-title":"Blood"},{"key":"2839_CR123","doi-asserted-by":"publisher","first-page":"1598","DOI":"10.1182\/blood.v97.6.1598","volume":"97","author":"AH Filipovich","year":"2001","unstructured":"Filipovich AH, Stone JV, Tomany SC, Ireland M, Kollman C, Pelz CJ, et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood. 2001;97:1598\u2013603. https:\/\/doi.org\/10.1182\/blood.v97.6.1598.","journal-title":"Blood"},{"key":"2839_CR124","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1007\/s12026-008-8063-8","volume":"44","author":"W Friedrich","year":"2009","unstructured":"Friedrich W, Sch\u00fctz C, Schulz A, Benninghoff U, H\u00f6nig M. Results and long-term outcome in 39 patients with Wiskott\u2013Aldrich syndrome transplanted from HLA-matched and -mismatched donors. Immunol Res. 2009;44:18\u201324. https:\/\/doi.org\/10.1007\/s12026-008-8063-8.","journal-title":"Immunol Res"},{"key":"2839_CR125","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1182\/blood-2007-03-076679","volume":"111","author":"H Ozsahin","year":"2008","unstructured":"Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, Schulz A, Thrasher AJ, Mazzolari E, et al. Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation. Blood. 2008;111:439\u201345. https:\/\/doi.org\/10.1182\/blood-2007-03-076679.","journal-title":"Blood"},{"key":"2839_CR126","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1007\/s13312-017-1097-z","volume":"54","author":"MJ John","year":"2017","unstructured":"John MJ, Philip CC, Mathew A, Williams A, Kakkar N. Un-manipulated Haploidentical Transplant in Wiskott-Aldrich Syndrome. Indian Pediatr. 2017;54:327\u20138. https:\/\/doi.org\/10.1007\/s13312-017-1097-z.","journal-title":"Indian Pediatr"},{"key":"2839_CR127","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1016\/j.jaci.2014.04.041","volume":"134","author":"G Kharya","year":"2014","unstructured":"Kharya G, Nademi Z, Leahy TR, Dunn J, Barge D, Schulz A, et al. Haploidentical T-cell alpha beta receptor and CD19-depleted stem cell transplant for Wiskott-Aldrich syndrome. J Allergy Clin Immunol. 2014;134:1199\u2013201. https:\/\/doi.org\/10.1016\/j.jaci.2014.04.041.","journal-title":"J Allergy Clin Immunol"},{"key":"2839_CR128","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1038\/bmt.2017.25","volume":"52","author":"P Kreetapirom","year":"2017","unstructured":"Kreetapirom P, Hongeng S, Manuyakorn W, Anurathapan U, Pakakasama S, Sirachainan N, et al. Successful HLA haploidentical HSCT with post-transplant cyclophosphamide in Wiskott\u2013Aldrich syndrome. Bone Marrow Transplant. 2017;52:913\u20134. https:\/\/doi.org\/10.1038\/bmt.2017.25.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR129","doi-asserted-by":"publisher","first-page":"2066","DOI":"10.1182\/blood.2021014687","volume":"139","author":"MH Albert","year":"2022","unstructured":"Albert MH, Slatter MA, Gennery AR, G\u00fcng\u00f6r T, Bakunina K, Markovitch B, et al. Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis. Blood. 2022;139:2066\u201379. https:\/\/doi.org\/10.1182\/blood.2021014687.","journal-title":"Blood"},{"key":"2839_CR130","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1111\/imr.13308","volume":"322","author":"CS Zerbe","year":"2024","unstructured":"Zerbe CS, Holland SM. Functional neutrophil disorders: chronic granulomatous disease and beyond. Immunol Rev. 2024;322:71\u201380. https:\/\/doi.org\/10.1111\/imr.13308.","journal-title":"Immunol Rev"},{"key":"2839_CR131","doi-asserted-by":"publisher","first-page":"2416","DOI":"10.1056\/NEJMoa021931","volume":"348","author":"JI Gallin","year":"2003","unstructured":"Gallin JI, Alling DW, Malech HL, Wesley R, Koziol D, Marciano B, et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med. 2003;348:2416\u201322. https:\/\/doi.org\/10.1056\/NEJMoa021931.","journal-title":"N Engl J Med"},{"key":"2839_CR132","doi-asserted-by":"publisher","first-page":"998","DOI":"10.1016\/s0022-3476(05)82023-2","volume":"125","author":"R Mouy","year":"1994","unstructured":"Mouy R, Veber F, Blanche S, Donadieu J, Brauner R, Levron JC, et al. Long-term itraconazole prophylaxis against Aspergillus infections in thirty-two patients with chronic granulomatous disease. J Pediatr. 1994;125:998\u20131003. https:\/\/doi.org\/10.1016\/s0022-3476(05)82023-2.","journal-title":"J Pediatr"},{"key":"2839_CR133","first-page":"210","volume":"1","author":"The Westminster Hospitals Bone-Marrow Transplant Team","year":"1977","unstructured":"The Westminster Hospitals Bone-Marrow Transplant Team. Bone-marrow transplant from an unrelated donor for chronic granulomatous disease. Lancet. 1977;1:210\u20133.","journal-title":"Lancet"},{"key":"2839_CR134","doi-asserted-by":"publisher","first-page":"1417","DOI":"10.1016\/j.jaci.2017.07.008","volume":"141","author":"RM Shah","year":"2018","unstructured":"Shah RM, Elfeky R, Nademi Z, Qasim W, Amrolia P, Chiesa R, et al. T-cell receptor \u03b1\u03b2(+) and CD19(+) cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency. J Allergy Clin Immunol. 2018;141:1417\u20131426.e1411. https:\/\/doi.org\/10.1016\/j.jaci.2017.07.008.","journal-title":"J Allergy Clin Immunol"},{"key":"2839_CR135","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.1016\/j.bbmt.2019.03.009","volume":"25","author":"B Neven","year":"2019","unstructured":"Neven B, Diana JS, Castelle M, Magnani A, Rosain J, Touzot F, et al. Haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide for primary immunodeficiencies and inherited disorders in children. Biol Blood Marrow Transplant. 2019;25:1363\u201373. https:\/\/doi.org\/10.1016\/j.bbmt.2019.03.009.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR136","doi-asserted-by":"publisher","first-page":"1755","DOI":"10.1182\/blood.2019001757","volume":"134","author":"A Laberko","year":"2019","unstructured":"Laberko A, Sultanova E, Gutovskaya E, Shipitsina I, Shelikhova L, Kurnikova E, et al. Mismatched related vs matched unrelated donors in TCR\u03b1\u03b2\/CD19-depleted HSCT for primary immunodeficiencies. Blood. 2019;134:1755\u201363. https:\/\/doi.org\/10.1182\/blood.2019001757.","journal-title":"Blood"},{"key":"2839_CR137","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1007\/s10875-015-0204-y","volume":"35","author":"M Parta","year":"2015","unstructured":"Parta M, Hilligoss D, Kelly C, Kwatemaa N, Theobald N, Malech H, et al. Haploidentical hematopoietic cell transplantation with post-transplant cyclophosphamide in a patient with chronic granulomatous disease and active infection: a first report. J Clin Immunol. 2015;35:675\u201380. https:\/\/doi.org\/10.1007\/s10875-015-0204-y.","journal-title":"J Clin Immunol"},{"key":"2839_CR138","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1182\/blood.2020005590","volume":"136","author":"R Chiesa","year":"2020","unstructured":"Chiesa R, Wang J, Blok HJ, Hazelaar S, Neven B, Moshous D, et al. Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults. Blood. 2020;136:1201\u201311. https:\/\/doi.org\/10.1182\/blood.2020005590.","journal-title":"Blood"},{"key":"2839_CR139","doi-asserted-by":"publisher","first-page":"2518","DOI":"10.1182\/blood.2024026915","volume":"145","author":"Q Riller","year":"2025","unstructured":"Riller Q, Hauri M, Lum SH, Knippenberg J, Sirait T, Laberko A, et al. HLA-haploidentical stem cell transplantation for chronic granulomatous disease: an EBMT-IEWP retrospective study. Blood. 2025;145:2518\u201327. https:\/\/doi.org\/10.1182\/blood.2024026915.","journal-title":"Blood"},{"key":"2839_CR140","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1038\/s41591-019-0735-5","volume":"26","author":"DB Kohn","year":"2020","unstructured":"Kohn DB, Booth C, Kang EM, Pai SY, Shaw KL, Santilli G, et al. Lentiviral gene therapy for X-linked chronic granulomatous disease. Nat Med. 2020;26:200\u20136. https:\/\/doi.org\/10.1038\/s41591-019-0735-5.","journal-title":"Nat Med"},{"key":"2839_CR141","doi-asserted-by":"publisher","DOI":"10.7189\/jogh.08.021102","volume":"8","author":"D Waters","year":"2018","unstructured":"Waters D, Adeloye D, Woolham D, Wastnedge E, Patel S, Rudan I. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. J Glob Health. 2018;8:021102. https:\/\/doi.org\/10.7189\/jogh.08.021102.","journal-title":"J Glob Health"},{"key":"2839_CR142","doi-asserted-by":"publisher","first-page":"1438","DOI":"10.1016\/j.bbmt.2012.03.003","volume":"18","author":"M Eapen","year":"2012","unstructured":"Eapen M, Ahn KW, Orchard PJ, Cowan MJ, Davies SM, Fasth A, et al. Long-term survival and late deaths after hematopoietic cell transplantation for primary immunodeficiency diseases and inborn errors of metabolism. Biol Blood Marrow Transplant. 2012;18:1438\u201345. https:\/\/doi.org\/10.1016\/j.bbmt.2012.03.003.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2839_CR143","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/j.pedhc.2017.04.016","volume":"32","author":"S Anderson","year":"2018","unstructured":"Anderson S. Newborn screening for lysosomal storage disorders. J Pediatr Health Care. 2018;32:285\u201394. https:\/\/doi.org\/10.1016\/j.pedhc.2017.04.016.","journal-title":"J Pediatr Health Care"},{"key":"2839_CR144","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1182\/blood-2003-10-3402","volume":"104","author":"C Peters","year":"2004","unstructured":"Peters C, Charnas LR, Tan Y, Ziegler RS, Shapiro EG, DeFor T, et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood. 2004;104:881\u20138. https:\/\/doi.org\/10.1182\/blood-2003-10-3402.","journal-title":"Blood"},{"key":"2839_CR145","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1038\/s41409-025-02512-6","volume":"60","author":"AM Rodrigues","year":"2025","unstructured":"Rodrigues AM, Fernandes JF, Gregianin L, Nichele S, Trennepohl J, Muratori R, et al. Hematopoietic stem cell transplantation in inborn errors of metabolism-a retrospective analysis on behalf of the pediatric disease working party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy. Bone Marrow Transplant. 2025;60:474\u201381. https:\/\/doi.org\/10.1038\/s41409-025-02512-6.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR146","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1038\/s41409-017-0015-2","volume":"53","author":"JF Fernandes","year":"2018","unstructured":"Fernandes JF, Bonfim C, Kerbauy FR, Rodrigues M, Esteves I, Silva NH, et al. Haploidentical bone marrow transplantation with post transplant cyclophosphamide for patients with X-linked adrenoleukodystrophy: a suitable choice in an urgent situation. Bone Marrow Transplant. 2018;53:392\u20139. https:\/\/doi.org\/10.1038\/s41409-017-0015-2.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR147","doi-asserted-by":"publisher","first-page":"409","DOI":"10.19723\/j.issn.1671-167X.2019.03.006","volume":"51","author":"Y Chen","year":"2019","unstructured":"Chen Y, Zhang XH, Xu LP, Liu KY, Qin J, Yang YL, et al. [Haploidentical allogenetic hematopoietic stem cell transplantation for X-linked adrenoleukodystrophy]. Beijing Da Xue Xue Bao Yi Xue Ban. 2019;51:409\u201313. https:\/\/doi.org\/10.19723\/j.issn.1671-167X.2019.03.006.","journal-title":"Beijing Da Xue Xue Bao Yi Xue Ban"},{"key":"2839_CR148","doi-asserted-by":"publisher","DOI":"10.1111\/petr.14735","volume":"28","author":"Y Chen","year":"2024","unstructured":"Chen Y, Xu LP, Zhang XH, Chen H, Liu KY, Qing J, et al. Haploidentical hematopoietic stem cell transplantation with busulfan, cyclophosphamide, and fludarabine conditioning for X-linked adrenal cerebral leukodystrophy. Pediatr Transplant. 2024;28:e14735. https:\/\/doi.org\/10.1111\/petr.14735.","journal-title":"Pediatr Transplant"},{"key":"2839_CR149","doi-asserted-by":"publisher","first-page":"R54","DOI":"10.1093\/hmg\/ddr112","volume":"20","author":"JA Hawkins-Salsbury","year":"2011","unstructured":"Hawkins-Salsbury JA, Reddy AS, Sands MS. Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts?. Hum Mol Genet. 2011;20:R54\u201360. https:\/\/doi.org\/10.1093\/hmg\/ddr112.","journal-title":"Hum Mol Genet"},{"key":"2839_CR150","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1002\/ana.24246","volume":"76","author":"MD Poe","year":"2014","unstructured":"Poe MD, Chagnon SL, Escolar ML. Early treatment is associated with improved cognition in Hurler syndrome. Ann Neurol. 2014;76:747\u201353. https:\/\/doi.org\/10.1002\/ana.24246.","journal-title":"Ann Neurol"},{"key":"2839_CR151","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1111\/jcpt.12136","volume":"39","author":"H Noh","year":"2014","unstructured":"Noh H, Lee JI. Current and potential therapeutic strategies for mucopolysaccharidoses. J Clin Pharm Ther. 2014;39:215\u201324. https:\/\/doi.org\/10.1111\/jcpt.12136.","journal-title":"J Clin Pharm Ther"},{"key":"2839_CR152","doi-asserted-by":"publisher","first-page":"2601","DOI":"10.1182\/blood.V91.7.2601","volume":"91","author":"C Peters","year":"1998","unstructured":"Peters C, Shapiro EG, Anderson J, Henslee-Downey PJ, Klemperer MR, Cowan MJ, et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. Blood. 1998;91:2601\u20138. https:\/\/doi.org\/10.1182\/blood.V91.7.2601.","journal-title":"Blood"},{"key":"2839_CR153","doi-asserted-by":"publisher","first-page":"1398","DOI":"10.1016\/s0140-6736(95)92597-x","volume":"345","author":"PM Hoogerbrugge","year":"1995","unstructured":"Hoogerbrugge PM, Brouwer OF, Bordigoni P, Ringden O, Kapaun P, Ortega JJ, et al. Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet. 1995;345:1398\u2013402. https:\/\/doi.org\/10.1016\/s0140-6736(95)92597-x.","journal-title":"Lancet"},{"key":"2839_CR154","doi-asserted-by":"publisher","first-page":"15","DOI":"10.3233\/jnd-190426","volume":"7","author":"SM Salabarria","year":"2020","unstructured":"Salabarria SM, Nair J, Clement N, Smith BK, Raben N, Fuller DD, et al. Advancements in AAV-mediated gene therapy for pompe disease. J Neuromuscul Dis. 2020;7:15\u201331. https:\/\/doi.org\/10.3233\/jnd-190426.","journal-title":"J Neuromuscul Dis"},{"key":"2839_CR155","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1038\/s41409-022-01838-9","volume":"58","author":"L Xu","year":"2023","unstructured":"Xu L, Lu Y, Chen J, Sun S, Hu S, Wang S, et al. Fludarabine- and low-dose cyclophosphamide-based conditioning regimens provided favorable survival and engraftment for unmanipulated hematopoietic cell transplantation from unrelated donors and matched siblings in patients with Fanconi anemia: results from the CBMTR. Bone Marrow Transplant. 2023;58:106\u20138. https:\/\/doi.org\/10.1038\/s41409-022-01838-9.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR156","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1038\/s41409-020-01056-1","volume":"56","author":"S Koyamaishi","year":"2021","unstructured":"Koyamaishi S, Kamio T, Kobayashi A, Sato T, Kudo K, Sasaki S, et al. Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond\u2013Blackfan anemia. Bone Marrow Transplant. 2021;56:1013\u201320. https:\/\/doi.org\/10.1038\/s41409-020-01056-1.","journal-title":"Bone Marrow Transplant"},{"key":"2839_CR157","doi-asserted-by":"publisher","first-page":"2562","DOI":"10.1182\/bloodadvances.2019000291","volume":"3","author":"C Li","year":"2019","unstructured":"Li C, Mathews V, Kim S, George B, Hebert K, Jiang H, et al. Related and unrelated donor transplantation for \u03b2-thalassemia major: results of an international survey. Blood Adv. 2019;3:2562\u201370. https:\/\/doi.org\/10.1182\/bloodadvances.2019000291.","journal-title":"Blood Adv"},{"key":"2839_CR158","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1182\/blood.2024024038","volume":"144","author":"SH Lum","year":"2024","unstructured":"Lum SH, Albert MH, Gilbert P, Sirait T, Algeri M, Muratori R, et al. Outcomes of HLA-mismatched HSCT with TCR\u03b1\u03b2\/CD19 depletion or post-HSCT cyclophosphamide for inborn errors of immunity. Blood. 2024;144:565\u201380. https:\/\/doi.org\/10.1182\/blood.2024024038.","journal-title":"Blood"}],"container-title":["Bone Marrow Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41409-026-02839-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41409-026-02839-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41409-026-02839-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T13:08:06Z","timestamp":1780664886000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41409-026-02839-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,10]]},"references-count":158,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["2839"],"URL":"https:\/\/doi.org\/10.1038\/s41409-026-02839-8","relation":{},"ISSN":["0268-3369","1476-5365"],"issn-type":[{"value":"0268-3369","type":"print"},{"value":"1476-5365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,10]]},"assertion":[{"value":"4 August 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 January 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 March 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 April 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}