Conflict of interest: none.
Bone marrow transplantation in Schimke immuno-osseous dysplasia
Article first published online: 15 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 10, pages 2609–2613, October 2013
How to Cite
2013. Bone marrow transplantation in Schimke immuno-osseous dysplasia. Am J Med Genet Part A 161A:2609–2613., , , , , .
- Issue published online: 17 SEP 2013
- Article first published online: 15 AUG 2013
- Manuscript Accepted: 29 MAY 2013
- Manuscript Received: 6 JAN 2013
- March of Dimes
- Gillson Longenbaugh Foundation
- Dana Foundation
- New Investigator Development Award, Microscopy, and Administrative Cores of the Mental Retardation and Developmental Disabilities Research Center at Baylor College of Medicine
- National Institute of Diabetes, Digestive, and Kidney Diseases, NIH
- Michael Smith Foundation
- Clinical Investigator at the Child & Family Research Institute
- Schimke immuno-osseous dysplasia;
- bone marrow transplantation;
- genotoxic agents
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 SMARCAL1 (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.