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Serum interleukin-18 levels are specifically elevated in auto-inflammatory diseases involving the pyrin inflammasome: A study on 516 patients

Archive ouverte | Elhani, Inès | CCSD

International audience. Auto-inflammatory diseases (AIDs) are characterized by excessive activation of innate immunity. Current biomarkers, such as C-reactive protein (CRP) and serum Amyloid A (SAA), are not disease...

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation

Archive ouverte | Cosson, Camille | CCSD

International audience. NLRP3-associated autoinflammatory disease is a heterogenous group of monogenic conditions caused by NLRP3 gain-of-function mutations. The poor functional characterization of most NLRP3 varian...

Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype.

Archive ouverte | Fayand, Antoine | CCSD

International audience. Background: Cryopyrin-associated periodic syndrome (CAPS) is associated with NLRP3 pathogenic variants, mostly located in the NACHT domain. Cold induced urticarial rash is one of the main cli...

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