ArticlePediatric rheumatology online journal2011
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
Article in Pediatric rheumatology online journal, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 29 citations in OpenAlex.
- Clinical, Radiologic, and Genetic Spectrum of Schimke Immuno-Osseous Dysplasia.Balkan medical journal · 2026Article
- Myasthenia Gravis in a Child With Schimke Immuno-Osseous Dysplasia: A Case Report.Clinical case reports · 2025Article
- Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical FindingsJournal of clinical research in pediatric endocrinology · 2025Article
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.Italian journal of pediatrics · 2023Article
- Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.International journal of molecular sciences · 2020Article
- Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia.Iranian journal of child neurology · 2018Article
- Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.PloS one · 2017Article
- Bone marrow transplantation in Schimke immuno-osseous dysplasia.American journal of medical genetics. Part A · 2013Review
- Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.Pediatric blood & cancer · 2013Article
- Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Orphanet journal of rare diseases · 2012Article
- Schimke Immuno-osseous Dysplasia: A Case Report.Indian journal of nephrologyArticle
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.