Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder characterized by short stature, nephropathy, spondyloepiphyseal dysplasia (SED), and T-cell deficiency. This condition is caused due to missense mutations in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a like 1 (SMARCAL1) gene. 1 Its management is largely symptomatic, with patients often requiring renal transplantation due to the progressive nature of the renal manifestations and mild immunosuppressive therapy to resolve renal symptoms.
But SIOD patients undergoing renal and hematopoietic stem cell transplantation are at high risk of mortality due to transplantation-related infection and graft versus host disease (GVHD). One hypothesis is that SMARCAL1 deficient tissues can be susceptible to myeloablative agents such as busulfan and melphalan. 2 An earlier method of…
