Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F11%3A7157" target="_blank" >RIV/00064203:_____/11:7157 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/11:7157 RIV/00216208:11150/11:10107388 RIV/00179906:_____/11:10107388
Result on the web
<a href="http://www.ncbi.nlm.nih.gov/pubmed/21914180" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/21914180</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia
Original language description
Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, isa rare autosomal recessive disease with its prominent features being skeletal dysplasia, T cell deficiency, and renal failure. We present a child with severe SIOD who developed rituximab resistant Evans syndrome (ES). Consistent with observations in several other immunodeficiency disorders, a review of SIOD patients showed that approximately a fifth of SIOD patients have some features of autoimmune disease. To our best knowledge this case represents the first patient with SIOD and rituximab resistant ESand the first study of autoimmune disease in SIOD.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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