CORDIS Project
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This project focuses on understanding a specific autoinflammatory syndrome called ‘ICE Fever’ linked to mutations in procaspase-1. By creating a mouse model with these mutations, researchers aim to explore the disease's mechanisms and potential treatments, particularly regarding inflammation pathways.
In up to 80% of patients with symptoms of an autoinflammatory syndrome (periodic fever syndrome) a molecular diagnosis is currently not possible.
Procaspase-1 (aka IL-1 converting enzyme, ICE) is a component of the CIAS1/NALP3 ‘inflammasome’ and plays critical roles in releasing the proinflammatory cytokine IL-1b. and regulating the NFkB-activating RIP-2 pathway.
Sequencing of the procaspase-1 coding region from 200 patients with undiagnosed autoinflammatory syndromes revealed mutations in 8 pat…
TECHNISCHE UNIVERSITAET DRESDEN
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