Molecule
NLRP3 (Cryopyrin)
Inflammasome sensor and scaffold
- Expression change
- mutated
- Evidence level
- established
- Targeted by
- MCC950, Dapansutrile (experimental)
Role in pathogenesis
Gain-of-function mutations in NLRP3 cause constitutive or hyper-responsive inflammasome assembly, bypassing normal signal 2 requirement. Over 250 pathogenic variants identified, mostly in exon 3 encoding the NACHT domain.
Targeting drugs (1)
| Drug | Mechanism | Response rate | Line |
|---|---|---|---|
| Dapansutrile | Oral NLRP3 inflammasome inhibitor | Phase 2a (no CAPS efficacy data yet) | Experimental |
Sources (3)
A1Hoffman HM et al. (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndromePubMed ↗
B2Molina-López C et al. (2024) Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β productionPubMed ↗