Molecule

NLRP3

Inflammasome sensor

Expression change
Dysregulated
Evidence level
strong

Role in pathogenesis

NLRP3 assembles the inflammasome that activates caspase-1, which cleaves pro-IL-1β into active form. Unlike CAPS (gain-of-function mutation), no consistent NLRP3 mutation found.

Sources (3)

Detailsde Koning HD et al. (2015) NLRP3 somatic mosaicism in variant SchnitzlerDOI
DetailsRowczenio DM et al. (2018) Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.DOI
DetailsLipsker D (2010) Schnitzler syndrome as paradigm of acquired autoinflammatory diseaseDOI