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

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

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3184066/pdf/1546-0096-9-27.pdf
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	I N Z
http://linked.open...avai/riv/aktivity	I, N, Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	September
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Skálová, Sylva
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice Hradec Králové
http://linked.open...dnocenehoVysledku	227145
http://linked.open...ai/riv/idVysledku	RIV/00179906:_____/11:10107388
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Rituximab; Evans syndrome; Nephrotic syndrome; Unilateral renal agenesis; osseous dysplasia; Schimke immuno (en)
http://linked.open.../riv/klicoveSlovo	osseous dysplasia Rituximab Evans syndrome Nephrotic syndrome Schimke immuno Unilateral renal agenesis
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	FG
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	14 (xsd:int)
http://linked.open...UplatneniVysledku	2011
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	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	1546-0096
number of pages	6 (xsd:int)
http://bibframe.org/vocab/doi	10.1186/1546-0096-9-27

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