Molecule2 diseases

NLRP3

Inflammasome sensor

Expression change
Dysregulated
Evidence level
strong

Expression across diseases

DiseaseRoleExpressionEvidence
Schnitzler SyndromeInflammasome sensorDysregulatedstrong
Cryopyrin-Associated Periodic SyndromesInflammasome sensor and scaffoldmutatedestablished

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)

C1de Koning HD et al. (2015) NLRP3 somatic mosaicism in variant SchnitzlerDOI
C2Rowczenio DM et al. (2018) 32-gene sequencing studyDOI
B1Lipsker D (2010) Schnitzler syndrome as paradigm of acquired autoinflammatory diseaseDOI