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Non-Hodgkin Lymphoma in a Child with Schimke Immuno-Osseous Dysplasia | ||
Iranian Journal of Medical Sciences | ||
مقاله 12، دوره 36، شماره 3، آذر 2011، صفحه 222-225 اصل مقاله (519.24 K) | ||
نوع مقاله: Case Report(s) | ||
نویسندگان | ||
Mitra Basiratnia* 1؛ Alireza Baradaran-Heravi2؛ Majid Yavarian3؛ Bita Geramizadeh4؛ Mehran Karimi3 | ||
1Shiraz Nephrology-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran | ||
2Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, Canada | ||
3Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran | ||
4Department of Pathology, Shiraz University of Medical Sciences, Shiraz, Iran | ||
چکیده | ||
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. | ||
کلیدواژهها | ||
Schimke immunoosseous dysplasia؛ lymphoproliferative؛ intussusception | ||
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