non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia

schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. mutations in swi/snf2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (smarcal1) gene are responsible for the disease. the present report describes, for the first time, a schimke immuno-osseous dysplasia child with smarcal1 missense mutation (r561h) and manifestations of intussusception secondary to epstein-barr virus-negative non-hodgkin lymphoma, who expired due to septicemia following chemotherapy. the report emphasizes the necessity of more limited immuno-suppressive protocols in schimke immuno-osseous dysplasia patients with lymphoproliferative disorders.