JB Kuemmerle-Deschner

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: Autoinflammatory diseases are characterised by fever and systemic inflammation, with potentially serious complications. Owing to the rarity of these diseases, evidence-based guidelines are lacking. In 2012, the European project Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) was launched to optimise and disseminate regimens for(More)
Cryopyrin-associated periodic syndromes (CAPS) are characterized by recurrent episodes of systemic inflammation caused by mutations in the NLRP3 gene. Besides confirmed pathogenic NLRP3 mutations, patients with CAPS-like symptoms frequently show low penetrance variants in NLRP3. The disease relevance of these variants is inconsistent. In this study, we(More)
Objective Cryopyrin-associated periodic syndrome (CAPS) is a heterogeneous group of diseases characterized by excessive Interleukin-1b (IL-1 b) release resulting in severe systemic and organ inflammation. Canakinumab targets IL-1b and is approved at standard dose for children and adults with all CAPS phenotypes. Limited data are available regarding(More)
OBJECTIVES Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI)(More)