Bone marrow transplantation in Schimke immuno‐osseous dysplasia. Issue 10 (15th August 2013)

• Record Type: Journal Article
• Authors: Baradaran‐Heravi, Alireza; Lange, Jonas; Asakura, Yumi; Cochat, Pierre; Massella, Laura; Boerkoel, Cornelius F.
• Is Part Of: American journal of medical genetics. Volume 161:Issue 10(2013:Oct.)
• Page Start: 2609
• Page End: 2613
• Publication Date: 2013-08-15
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36111
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga36111-sec-0001" sec-type="section"> <p>Schimke immuno‐osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, renal failure, T‐cell immunodeficiency, and hypersensitivity to genotoxic agents. SIOD is associated with biallelic mutations in <italic>SMARCAL1</italic> (SWI/SNF‐related matrix‐associated actin‐dependent regulator of chromatin, subfamily a‐like 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‐cell 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. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>