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Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia Zieg, Jakub; Krepelova, Anna; Baradaran-Heravi, Alireza; Levtchenko, Elena; Guillén-Navarro, Encarna; Balascakova, Miroslava; Sukova, Martina; Seeman, Tomas; Dusek, Jiri; Simankova, Nadezda; Rosik, Tomas; Skalova, Sylva; Lebl, Jan; Boerkoel, Cornelius F

Abstract

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.

Item Metadata

Title
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia
Creator
Zieg, Jakub; Krepelova, Anna; Baradaran-Heravi, Alireza; Levtchenko, Elena; Guillén-Navarro, Encarna; Balascakova, Miroslava; Sukova, Martina; Seeman, Tomas; Dusek, Jiri; Simankova, Nadezda; Rosik, Tomas; Skalova, Sylva; Lebl, Jan; Boerkoel, Cornelius F
Publisher
BioMed Central
Date Issued
2011-09-13
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.
Subject
Schimke immuno; osseous dysplasia; Unilateral renal agenesis; Nephrotic syndrome; Evans syndrome; Rituximab
Genre
Article
Type
Text
Language
eng
Date Available
2016-01-11
Provider
Vancouver : University of British Columbia Library
Rights
Attribution 4.0 International (CC BY 4.0)
DOI
10.14288/1.0223255
URI
http://hdl.handle.net/2429/56396
Affiliation
Medical Genetics, Department of; Medicine, Faculty of
Citation
Pediatric Rheumatology. 2011 Sep 13;9(1):27
Publisher DOI
10.1186/1546-0096-9-27
Peer Review Status
Reviewed
Scholarly Level
Faculty
Copyright Holder
Zieg et al; licensee BioMed Central Ltd.
Rights URI
http://creativecommons.org/licenses/by/4.0/
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Attribution 4.0 International (CC BY 4.0)