{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:15:00Z","timestamp":1790500500783,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T00:00:00Z","timestamp":1376524800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Schimke immuno\u2010osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, renal failure, T\u2010cell immunodeficiency, and hypersensitivity to genotoxic agents. SIOD is associated with biallelic mutations in <jats:italic>SMARCAL1<\/jats:italic> (SWI\/SNF\u2010related matrix\u2010associated actin\u2010dependent regulator of chromatin, subfamily a\u2010like 1), which encodes a DNA stress response enzyme with annealing helicase activity. Two features of SIOD causing much morbidity and mortality are bone marrow failure and T\u2010cell deficiency with the consequent opportunistic infections. To address the safety and efficacy of bone marrow transplantation (BMT) in SIOD, we reviewed the outcomes of the only five SIOD patients known to us in whom bone marrow or hematopoietic stem cell transplantation has been attempted. We find that only one patient survived the transplantation procedure and that the existing indicators of a good prognosis for bone marrow transplantation were not predictive in this small cohort. Given these observations, we also discuss some considerations for the poor outcomes. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36111","type":"journal-article","created":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T19:28:27Z","timestamp":1376594907000},"page":"2609-2613","source":"Crossref","is-referenced-by-count":29,"title":["Bone marrow transplantation in Schimke immuno\u2010osseous dysplasia"],"prefix":"10.1002","volume":"161","author":[{"given":"Alireza","family":"Baradaran\u2010Heravi","sequence":"first","affiliation":[{"name":"Child and Family Research Institute Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas","family":"Lange","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology University Children's Hospital M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Asakura","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Cochat","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales Rares Hospices Civils de Lyon and Universit\u00e9 de Lyon Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Massella","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelius F.","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"Child and Family Research Institute Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1839909"},{"key":"e_1_2_6_3_1","volume-title":"GeneReviews","author":"Baradaran\u2010Heravi A","year":"1993"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds083"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35532"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.178459.111"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050001"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng821"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1832309"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20432"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05439.x"},{"key":"e_1_2_6_12_1","first-page":"321","article-title":"Drug\u2010induced pulmonary disease. 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