TY - JOUR
T1 - Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia
AU - Zieg, Jakub
AU - Krepelova, Anna
AU - Baradaran-Heravi, Alireza
AU - Levtchenko, Elena
AU - Guillén-Navarro, Encarna
AU - Balascakova, Miroslava
AU - Sukova, Martina
AU - Seeman, Tomas
AU - Dusek, Jiri
AU - Simankova, Nadezda
AU - Rosik, Tomas
AU - Skalova, Sylva
AU - Lebl, Jan
AU - Boerkoel, Cornelius F.
N1 - Funding Information:
This work was supported in part by grant VZ 0006420301 MZOFNM 2005, the Czech Ministry of Health. It was also supported by the March of Dimes (C.F.B.); the Gillson Longenbaugh Foundation (C.F.B.); the Dana Foundation (C.F.B.), the New Development Award, Microscopy, and Administrative Cores of the Mental Retardation and Developmental Disabilities Research Center at Baylor College of Medicine (C.F.B.); the Burroughs Wellcome Foundation (C.F.B.); the National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health (C.F.B.); the New Investigator Grant: Institute of Human Development, Child and Youth Health from the SickKids Foundation - Canadian Institutes of Health Research (C.F.B.); the Association Autour D’Emeric et D’Anthony (C.F.B.); and The Little Giants Foundation (C.F.B.). C.F.B. is a scholar of the Michael Smith Foundation for Health Research and a Clinical Investigator of the Child & Family Research Institute.
PY - 2011/9/13
Y1 - 2011/9/13
N2 - 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.
AB - 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.
KW - Evans Syndrome
KW - Nephrotic Syndrome
KW - Osseous Dysplasia
KW - Rituximab
KW - Schimke Immuno
KW - Unilateral Renal Agenesis
UR - https://www.scopus.com/pages/publications/80052680212
U2 - 10.1186/1546-0096-9-27
DO - 10.1186/1546-0096-9-27
M3 - Article
SN - 1546-0096
VL - 9
JO - Pediatric Rheumatology
JF - Pediatric Rheumatology
M1 - 27
ER -