{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T17:24:07Z","timestamp":1770744247751,"version":"3.49.0"},"reference-count":50,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,1,13]],"date-time":"2022-01-13T00:00:00Z","timestamp":1642032000000},"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":["European J of Haematology"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Classification of inherited bone marrow failure syndromes (IBMFSs) according to clinical and genetic diagnoses enables proper adjustment of treatment. Unfortunately, 30% of patients enrolled in the Canadian Inherited Marrow Failure Registry (CIMFR) with features suggesting hereditability could not be classified with a specific syndromic diagnosis. We analyzed the outcome of hematopoietic stem cell transplantation (HSCT) in unclassified IBMFSs (uIBMFSs) and the factors associated with outcome. Twenty\u2010two patients with uIBMFSs and 70 patients with classified IBMFSs underwent HSCT. Five\u2010year overall survival of uIBMFS patients after HSCT was inferior to that of patients with classified IBMFSs (56% vs 76.5%). The outcome of patients with uIBMFS who received cord blood was significantly lower than that of patients who received other stem cell sources (14.8% vs 90.9%). Engraftment failure was higher among patients with uIBMFS who received cord blood than those who received bone marrow. None of the following factors were significantly associated with poor survival: transfusion load, transplant indication, the intensity of conditioning regimen, human leukocyte antigen\u2010identical sibling\/alternative donor. We suggest that identifying the genetic diagnosis is essential to modulate the transplant procedure including conditioning agents and stem cell sources for better outcome and the standard cord blood transplantation (CBT) should be avoided in uIBMFS.<\/jats:p>","DOI":"10.1111\/ejh.13733","type":"journal-article","created":{"date-parts":[[2021,12,12]],"date-time":"2021-12-12T07:35:37Z","timestamp":1639294537000},"page":"278-287","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Poor outcome after hematopoietic stem cell transplantation of patients with unclassified inherited bone marrow failure syndromes"],"prefix":"10.1111","volume":"108","author":[{"given":"Yeon Jung","family":"Lim","sequence":"first","affiliation":[{"name":"Marrow Failure and Myelodysplasia Program Division of Haematology\/Oncology Department of Paediatrics University of Toronto  Toronto ON Canada"},{"name":"Genetics and Genome Biology Program Research Institute The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omri A.","family":"Arbiv","sequence":"additional","affiliation":[{"name":"Marrow Failure and Myelodysplasia Program Division of Haematology\/Oncology Department of Paediatrics University of Toronto  Toronto ON Canada"},{"name":"Genetics and Genome Biology Program Research Institute The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie E.","family":"Kalbfleisch","sequence":"additional","affiliation":[{"name":"Marrow Failure and Myelodysplasia Program Division of Haematology\/Oncology Department of Paediatrics University of Toronto  Toronto ON Canada"},{"name":"Genetics and Genome Biology Program Research Institute The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6913-2808","authenticated-orcid":false,"given":"Robert J.","family":"Klaassen","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario  Ottawa ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Conrad","family":"Fernandez","sequence":"additional","affiliation":[{"name":"IWK Health Centre  Halifax NS Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meera","family":"Rayar","sequence":"additional","affiliation":[{"name":"British Columbia Children's Hospital  Vancouver BC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MacGregor","family":"Steele","sequence":"additional","affiliation":[{"name":"Alberta Children's Hospital  Calgary AB Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey H.","family":"Lipton","sequence":"additional","affiliation":[{"name":"Princess Margaret Cancer Centre  Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geoff","family":"Cuvelier","sequence":"additional","affiliation":[{"name":"CancerCare Manitoba  Winnipeg MB Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves D.","family":"Pastore","sequence":"additional","affiliation":[{"name":"H\u00f4pital Ste. Justine  Montr\u00e9al QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Silva","sequence":"additional","affiliation":[{"name":"Queen's University  Kingston ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josee","family":"Brossard","sequence":"additional","affiliation":[{"name":"Centre U Sante de l'Estrie\u2010Fleur  Sherbrooke QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Michon","sequence":"additional","affiliation":[{"name":"Centre Hospital University Quebec\u2010Pav CHUL  Sainte\u2010Foy QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon","family":"Abish","sequence":"additional","affiliation":[{"name":"Montreal Children's Hospital  Montreal QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roona","family":"Sinha","sequence":"additional","affiliation":[{"name":"University of Saskatchewan  Saskatoon SK Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Corriveau\u2010Bourque","sequence":"additional","affiliation":[{"name":"University of Alberta  Edmonton AB Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vicky R.","family":"Breakey","sequence":"additional","affiliation":[{"name":"McMaster Children's Hospital\/McMaster University Health Sciences Centre  Hamilton ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soumitra","family":"Tole","sequence":"additional","affiliation":[{"name":"Children's Hospital London Health Sciences Centre  London ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Goodyear","sequence":"additional","affiliation":[{"name":"Janeway Child Health Centre  St. John's NL Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lillian","family":"Sung","sequence":"additional","affiliation":[{"name":"Child Health and Evaluative Sciences The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bozana","family":"Zlateska","sequence":"additional","affiliation":[{"name":"Marrow Failure and Myelodysplasia Program Division of Haematology\/Oncology Department of Paediatrics University of Toronto  Toronto ON Canada"},{"name":"Genetics and Genome Biology Program Research Institute The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michaela","family":"Cada","sequence":"additional","affiliation":[{"name":"Marrow Failure and Myelodysplasia Program Division of Haematology\/Oncology Department of Paediatrics University of Toronto  Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yigal","family":"Dror","sequence":"additional","affiliation":[{"name":"Marrow Failure and Myelodysplasia Program Division of Haematology\/Oncology Department of Paediatrics University of Toronto  Toronto ON Canada"},{"name":"Genetics and Genome Biology Program Research Institute The Hospital for Sick Children  Toronto ON Canada"},{"name":"Institute of Medical Sciences University of Toronto  Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,1,13]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Hoffman's Textbook of Hematology: Principles and Practice","author":"Dror Y","year":"2018"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103270"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2014.113456"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3415"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.089821"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3569"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.01.007"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-019-0104-9"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1306555"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.197"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.119"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2019.237693"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-07-036657"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.11436"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-012-1079-9"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2006.06128.x"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2011.01.001"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-09-743112"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2014.08.004"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2018.01.030"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2010.03.002"},{"issue":"2","key":"e_1_2_8_23_1","first-page":"422","article-title":"Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA\u2010matched unrelated donors: a study on behalf of the European Group for Blood and Marrow Transplantation","volume":"95","author":"Guardiola P","year":"2000","journal-title":"Blood"},{"key":"e_1_2_8_24_1","first-page":"1109","volume-title":"Pediatrics","author":"Dallman PR","year":"1977"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2014.117457"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2009.07.004"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-02-514778"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1705885"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2005.09.004"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2017.11.031"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1705141"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12787"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2017.08.004"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-02-626002"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2008.151"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2008.06.020"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.28652"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26310"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198910263211707"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200006223422501"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.10.2957"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2008.07.003"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2009.07883.x"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2006.03.002"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1983.tb02117.x"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1159\/000318721"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2010.01431.x"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2013.35"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2009.10.004"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/petr.12213"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-01-479733"}],"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ejh.13733","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ejh.13733","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ejh.13733","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T04:27:19Z","timestamp":1693110439000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ejh.13733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,13]]},"references-count":50,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1111\/ejh.13733"],"URL":"https:\/\/doi.org\/10.1111\/ejh.13733","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"value":"0902-4441","type":"print"},{"value":"1600-0609","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,13]]},"assertion":[{"value":"2021-07-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}