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Basiratnia, Mitra, Baradaran-Heravi, Alireza, Yavarian, Majid, Geramizadeh, Bita, Karimi, Mehran. (1390). Non-Hodgkin Lymphoma in a Child with Schimke Immuno-Osseous Dysplasia. سامانه مدیریت نشریات علمی, 36(3), 222-225.
Mitra Basiratnia; Alireza Baradaran-Heravi; Majid Yavarian; Bita Geramizadeh; Mehran Karimi. "Non-Hodgkin Lymphoma in a Child with Schimke Immuno-Osseous Dysplasia". سامانه مدیریت نشریات علمی, 36, 3, 1390, 222-225.
Basiratnia, Mitra, Baradaran-Heravi, Alireza, Yavarian, Majid, Geramizadeh, Bita, Karimi, Mehran. (1390). 'Non-Hodgkin Lymphoma in a Child with Schimke Immuno-Osseous Dysplasia', سامانه مدیریت نشریات علمی, 36(3), pp. 222-225.
Basiratnia, Mitra, Baradaran-Heravi, Alireza, Yavarian, Majid, Geramizadeh, Bita, Karimi, Mehran. Non-Hodgkin Lymphoma in a Child with Schimke Immuno-Osseous Dysplasia. سامانه مدیریت نشریات علمی, 1390; 36(3): 222-225.

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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