{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:32:09Z","timestamp":1787499129454,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,7,9]],"date-time":"2018-07-09T00:00:00Z","timestamp":1531094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Dyskeratosis congenita (\n                    <jats:styled-content style=\"fixed-case\">DC<\/jats:styled-content>\n                    ) is a genetic multisystem disorder with frequent involvement of the bone marrow. Haematopoietic stem cell transplantation (\n                    <jats:styled-content style=\"fixed-case\">HSCT<\/jats:styled-content>\n                    ) is the only definitive cure to restore haematopoiesis, even though it cannot correct other organ dysfunctions. We collected data on the outcome of\n                    <jats:styled-content style=\"fixed-case\">HSCT<\/jats:styled-content>\n                    in the largest cohort of\n                    <jats:styled-content style=\"fixed-case\">DC<\/jats:styled-content>\n                    (\n                    <jats:italic>n<\/jats:italic>\n                    \u00a0=\u00a094) patients ever studied. Overall survival (\n                    <jats:styled-content style=\"fixed-case\">OS<\/jats:styled-content>\n                    ) and event\u2010free survival (\n                    <jats:styled-content style=\"fixed-case\">EFS<\/jats:styled-content>\n                    ) at 3\u00a0years after\n                    <jats:styled-content style=\"fixed-case\">HSCT<\/jats:styled-content>\n                    were 66% and 62%, respectively. Multivariate analysis showed better outcomes in patients aged less than 20\u00a0years and in patients transplanted from a matched, rather than a mismatched, donor.\n                    <jats:styled-content style=\"fixed-case\">OS<\/jats:styled-content>\n                    and\n                    <jats:styled-content style=\"fixed-case\">EFS<\/jats:styled-content>\n                    curves tended to decline over time. Early lethal events were infections, whereas organ damage and secondary malignancies appeared afterwards, even a decade after\n                    <jats:styled-content style=\"fixed-case\">HSCT<\/jats:styled-content>\n                    . A non\u2010myeloablative conditioning regimen appeared to be most advisable. Organ impairment present before\n                    <jats:styled-content style=\"fixed-case\">HSCT<\/jats:styled-content>\n                    seemed to favour the development of chronic graft\u2010versus\u2010host disease and T\u2010B immune deficiency appeared to enhance pulmonary fibrosis. According to the present data,\n                    <jats:styled-content style=\"fixed-case\">HSCT<\/jats:styled-content>\n                    in\n                    <jats:styled-content style=\"fixed-case\">DC<\/jats:styled-content>\n                    is indicated in cases of progressive marrow failure, whereas in patients with pre\u2010existing organ damage, this should be carefully evaluated. Further efforts to investigate treatment alternatives to\n                    <jats:styled-content style=\"fixed-case\">HSCT<\/jats:styled-content>\n                    should be encouraged.\n                  <\/jats:p>","DOI":"10.1111\/bjh.15495","type":"journal-article","created":{"date-parts":[[2018,7,9]],"date-time":"2018-07-09T07:01:49Z","timestamp":1531119709000},"page":"110-118","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":78,"title":["Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita"],"prefix":"10.1111","volume":"183","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7096-4580","authenticated-orcid":false,"given":"Francesca","family":"Fioredda","sequence":"first","affiliation":[{"name":"Haematology Unit Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Iacobelli","sequence":"additional","affiliation":[{"name":"Department of Biology Universit\u00e0 TorVergata Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth T.","family":"Korthof","sequence":"additional","affiliation":[{"name":"Paediatric Stem Cell Transplantation Leiden University Medical Centre Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cora","family":"Knol","sequence":"additional","affiliation":[{"name":"EBMT Data Office Leiden Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"van Biezen","sequence":"additional","affiliation":[{"name":"EBMT Data Office Leiden Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorine","family":"Bresters","sequence":"additional","affiliation":[{"name":"Department of Haematology Leiden University Hospital Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Veys","sequence":"additional","affiliation":[{"name":"Bone Marrow Transplantation Department Great Ormond Street Hospital London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayami","family":"Yoshimi","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine Division of Paediatric Haematology and Oncology Medical Centre Faculty of Medicine University of Freiburg Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franca","family":"Fagioli","sequence":"additional","affiliation":[{"name":"Paediatric Onco\u2010Haematology Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's Hospital Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brune","family":"Mats","sequence":"additional","affiliation":[{"name":"Haematology Unit Sahlgrenska University G\u00f6teborg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8818-1744","authenticated-orcid":false,"given":"Marco","family":"Zecca","sequence":"additional","affiliation":[{"name":"Paediatric Haematology\/Oncology Fondazione IRCCS Policlinico San Matteo Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maura","family":"Faraci","sequence":"additional","affiliation":[{"name":"Bone Marrow Transplantation Unit Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Miano","sequence":"additional","affiliation":[{"name":"Haematology Unit Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Arcuri","sequence":"additional","affiliation":[{"name":"Haematology Unit Istituto Giannina Gaslini Genoa 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