Bone marrow transplantation in Schimke immuno-osseous dysplasia.
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.
Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Alireza
A
Baradaran-Heravi
Jonas
J
Lange
Yumi
Y
Asakura
Pierre
P
Cochat
Laura
L
Massella
Cornelius F
CF
Boerkoel
D001161:Arteriosclerosis / Q000235:genetics / Q000628:therapy*; D016026:Bone Marrow Transplantation / Q000009:adverse effects; D002648:Child; D002675:Child, Preschool; D004265:DNA Helicases / Q000235:genetics; D017809:Fatal Outcome; D006086:Graft vs Host Disease / Q000188:drug therapy / Q000209:etiology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000628:therapy*; D008297:Male; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics / Q000628:therapy*; D010009:Osteochondrodysplasias / Q000235:genetics / Q000628:therapy*; D000081207:Primary Immunodeficiency Diseases; D011655:Pulmonary Embolism / Q000235:genetics / Q000628:therapy*; D014184:Transplantation, Homologous; D016896:Treatment Outcome
C412482:SMARCAL1 protein, human; D004265:DNA Helicases
Schimke immuno-osseous dysplasia; bone marrow transplantation; genotoxic agents