{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:35:05Z","timestamp":1790796905666,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T00:00:00Z","timestamp":1775606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T00:00:00Z","timestamp":1775606400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Diamond\u2013Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome characterized by erythroid aplasia, congenital anomalies, and cancer predisposition. Although corticosteroids are the standard first\u2010line therapy for transfusion\u2010dependent patients, treatment response varies, and reliable predictors remain undefined. We retrospectively analyzed data from the Canadian Inherited Marrow Failure Registry to identify clinical and genetic factors associated with steroid responsiveness. Among 80 patients with evaluable steroid response, 30 were classified as the responder group and 50 as the non\u2010responder group (non\u2010response or loss of response after initial improvement). The median age at diagnosis was significantly higher in the responder group than in the non\u2010responder group (20\u2009months vs. 3\u2009months,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.004). ROC curve analysis showed that age at diagnosis had predictive value for steroid responsiveness, with an optimal cutoff of 9.5\u2009months. DBA\u2010associated genetic mutations were identified in 58 patients. Notably,\n                    <jats:italic>RPL5<\/jats:italic>\n                    mutations were significantly more frequent in the non\u2010responder group than in the responder group (22.0% vs. 0%,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.004). No significant difference in overall survival was observed between the responder and non\u2010responder groups. Differences in corticosteroid response were associated with diagnostic age and specific genetic variants, offering potential guidance for individualized treatment decisions.\n                  <\/jats:p>","DOI":"10.1111\/ejh.70187","type":"journal-article","created":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T10:26:10Z","timestamp":1775643970000},"page":"267-273","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Steroid Responsiveness and Clinical Outcomes in Diamond\u2013Blackfan Anemia: Analysis From the Canadian Inherited Marrow Failure Registry"],"prefix":"10.1111","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7016-8827","authenticated-orcid":false,"given":"Young Bae","family":"Choi","sequence":"first","affiliation":[{"name":"Genetics and Genome Biology Program The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Pediatrics Ajou University School of Medicine  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