Open Access Highly Accessed Case Report

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

Jakub Zieg1*, Anna Krepelova2, Alireza Baradaran-Heravi3, Elena Levtchenko4, Encarna Guillén-Navarro5, Miroslava Balascakova2, Martina Sukova6, Tomas Seeman1, Jiri Dusek1, Nadezda Simankova1, Tomas Rosik1, Sylva Skalova7, Jan Lebl1 and Cornelius F Boerkoel3

Author Affiliations

1 Department of Pediatrics, Second Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic

2 Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic

3 Department of Medical Genetics, University of British Columbia, Vancouver, Canada

4 Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium

5 Unidad de Genética Médica, Servicio de Pediatría, Hospital Universitario Virgen de La Arrixaca, Murcia, Spain

6 Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic

7 Department of Pediatrics, Faculty of Medicine and University Hospital Hradec Králové, Charles University, Prague, Czech Republic

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Pediatric Rheumatology 2011, 9:27  doi:10.1186/1546-0096-9-27

Published: 13 September 2011

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.

Keywords:
Schimke immuno; osseous dysplasia; Unilateral renal agenesis; Nephrotic syndrome; Evans syndrome; Rituximab