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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/11:7157 RIV/00216208:11150/11:10107388 RIV/00179906:_____/11:10107388

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2011

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Pediatric Rheumatology

ISSN

1546-0096

e-ISSN

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Svazek periodika

9

Číslo periodika v rámci svazku

27

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

6

Strana od-do

1-6

Kód UT WoS článku

000295596800001

EID výsledku v databázi Scopus

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