1. PReS-FINAL-2215: Genotype-phenotype correlations in children with Familial Mediterranean Fever in Germany
- Author
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Peter Lohse, Dirk Foell, Ulrich Neudorf, Tim Niehues, Tilmann Kallinich, Helmut Wittkowski, Elke Lainka, M Jeske, and Faekah Gohar
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Medizin ,Familial Mediterranean fever ,medicine.disease ,MEFV ,Rheumatology ,Disease activity ,Internal medicine ,Poster Presentation ,Pediatrics, Perinatology and Child Health ,Immunology ,Immunology and Allergy ,Medicine ,Pediatrics, Perinatology, and Child Health ,business ,Genotype-Phenotype Correlations ,Autoinflammatory Disorders - Abstract
Familial Mediterranean fever (FMF) is one of the most common autoinflammatory diseases (AID). A variety of relevant mutations in the MEFV gene have been demonstrated. Pro-inflammatory S100 proteins correlate with disease activity in autoinflammatory disorders, and have been previously correlated with clinically active FMF. Here, we describe the association between these biomarkers and stable FMF including different mutations, as recorded in the German AID-Net-registry.
- Published
- 2013