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 spondyloepiphyseal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Shiraz University of Medical Sciences
2011-09-01
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| Series: | Iranian Journal of Medical Sciences |
| Subjects: | |
| Online Access: | http://ijms.sums.ac.ir/files/PDFfiles/12-Dr.%20Basiratnia.pdf |
| Summary: | Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphyseal 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 immunosuppressive protocols in Schimke immuno-osseous dysplasia patients with lymphoproliferative disorders |
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| ISSN: | 0253-0716 1735-3688 |