Premium
Bone marrow transplantation in Schimke immuno‐osseous dysplasia
Author(s) -
BaradaranHeravi Alireza,
Lange Jonas,
Asakura Yumi,
Cochat Pierre,
Massella Laura,
Boerkoel Cornelius F.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36111
Subject(s) - medicine , dysplasia , transplantation , bone marrow transplantation , wiskott–aldrich syndrome , bone marrow , genetic disorder , immunology , disease , biology , genetics , gene
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.