About: Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia     Goto   Sponge   NotDistinct   Permalink

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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, is a 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 ES and the first study of autoimmune disease in SIOD.
  • 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, is a 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 ES and the first study of autoimmune disease in SIOD. (en)
Title
  • Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia
  • Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia (en)
skos:prefLabel
  • Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia
  • Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia (en)
skos:notation
  • RIV/00179906:_____/11:10107388!RIV12-MZ0-00179906
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I, N, Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika
  • September
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 227145
http://linked.open...ai/riv/idVysledku
  • RIV/00179906:_____/11:10107388
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Rituximab; Evans syndrome; Nephrotic syndrome; Unilateral renal agenesis; osseous dysplasia; Schimke immuno (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [32C58C8E0F36]
http://linked.open...i/riv/nazevZdroje
  • Pediatric Rheumatology
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 9
http://linked.open...iv/tvurceVysledku
  • Dušek, Jiří
  • Lebl, Jan
  • Suková, Martina
  • Seeman, Tomáš
  • Skálová, Sylva
  • Zieg, Jakub
  • Křepelová, Anna
  • Rosík, Tomáš
  • Balaščaková, Miroslava
  • Baradaran-Heravi, Alireza
  • Boerkoel, Cornelius F
  • Guillen-Navarro, Encarna
  • Levtchenko, Elena
  • Šimánková, Naděžda
http://linked.open...ain/vavai/riv/wos
  • 000295596800001
http://linked.open...n/vavai/riv/zamer
issn
  • 1546-0096
number of pages
http://bibframe.org/vocab/doi
  • 10.1186/1546-0096-9-27
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