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The cryopyrin-associated periodic syndromes (CAPS) are characterized by recurrent episodes of systemic inflammation. CAPS is caused by mutations in the NLRP3 gene encoding cryopyrin, an important component of the NLRP3 inflammasome that activates caspase-1 resulting in inflammation by excessive production of IL-1β and others. A diagnostic dilemma is often encountered in patients with unspecific inflammatory symptoms like fatigue, muscle pain, arthralgia or slight hearing loss and low penetrance variants in NLRP3 / CIAS with an inconsistent clinical phenotype. The analysis of IL-1β in the serum did not prove to be a valid diagnostic test in these individuals.

A functional inflammasome activation assay discriminates between genetically proven caps patients and patients with low penetrance NLRP3 variants