TY - JOUR ID - 39634 TI - Non-Hodgkin Lymphoma in a Child with Schimke Immuno-Osseous Dysplasia JO - Iranian Journal of Medical Sciences JA - IJMS LA - en SN - 0253-0716 AU - Basiratnia, Mitra AU - Baradaran-Heravi, Alireza AU - Yavarian, Majid AU - Geramizadeh, Bita AU - Karimi, Mehran AD - Shiraz Nephrology-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran AD - Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, Canada AD - Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran AD - Department of Pathology, Shiraz University of Medical Sciences, Shiraz, Iran Y1 - 2011 PY - 2011 VL - 36 IS - 3 SP - 222 EP - 225 KW - Schimke immunoosseous dysplasia KW - lymphoproliferative KW - Intussusception DO - N2 - 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. UR - https://ijms.sums.ac.ir/article_39634.html L1 - https://ijms.sums.ac.ir/article_39634_99e3cb39969d1a3cc1efa3709cb32bd3.pdf ER -