Bone marrow transplantation in Schimke immuno-osseous dysplasia

Alireza Baradaran-Heravi, Jonas Lange, Yumi Asakura, Pierre Cochat, Laura Massella, Cornelius F. Boerkoel

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)2609-2613
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number10
Publication statusPublished - Oct 2013


  • Bone marrow transplantation
  • Genotoxic agents
  • Schimke immuno-osseous dysplasia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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