Rituximab Resistant Evans Syndrome in Schimke Immuno-Ossseous Dysplasia
Author Information
Author(s): 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
Primary Institution: Department of Pediatrics, Second Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic
Hypothesis
The study investigates the occurrence and implications of autoimmune disease in patients with Schimke immuno-osseous dysplasia (SIOD).
Conclusion
The study identifies the first case of a patient with SIOD who developed rituximab resistant Evans syndrome, highlighting the autoimmune complications associated with this condition.
Supporting Evidence
- The patient had severe SIOD and developed rituximab resistant Evans syndrome.
- Approximately a fifth of SIOD patients exhibit features of autoimmune disease.
- The study highlights the compromised self-tolerance due to T cell immunodeficiency in SIOD.
Takeaway
This study talks about a girl with a rare disease who had a hard time fighting off infections and developed a serious blood problem that didn't get better with usual treatments.
Methodology
The study involved clinical data collection through questionnaires completed by physicians and molecular genetic testing to confirm the diagnosis.
Limitations
The study is based on a single case report, which may limit the generalizability of the findings.
Participant Demographics
The participant was a 4.5-year-old girl with severe SIOD.
Digital Object Identifier (DOI)
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