Sources & References

46 published sources for Cryopyrin-Associated Periodic Syndromes, each with evidence grades and key findings.

46 total sourcesGrade A: 14Grade B: 19Grade C: 10Grade D: 3pathophysiology (11)genetics (9)clinical (12)treatment (11)diagnosis (2)epidemiology (1)

pathophysiology

11 sources

Grade Bbasic researchUnverified

Mice humanized by syntenic replacement with full-length NLRP3 disease-associated variants model the clinical cryopyrinopathy continuum

Snouwaert JN, Nguyen M, Gabel CA, Aksentijevich I, Ting JP, Koller BH · JCI Insight · 2026

  • ●Five humanized mouse lines expressing common human NLRP3 or one of four CAPS mutations spanning FCAS to NOMID
  • ●Syntenic human NLRP3 locus replacement recapitulates the full disease severity spectrum
  • ●Species-specific regulation and intramolecular epistasis influence disease-associated variant modeling
DetailsDOI ↗
Grade BreviewUnverified

The NLRP3 Inflammasome: Mechanisms of Activation, Regulation, and Therapeutic Opportunities

Zou C, Jiang S, Li H, Zhao K, Cao D, Yang G · MedComm · 2026

  • ●Updated overview of NLRP3 activation mechanisms including ion flux, mitochondrial damage, lysosomal rupture, ROS, and post-translational modifications
  • ●Comprehensive review of negative regulatory pathways maintaining inflammasome homeostasis
  • ●Summary of emerging therapeutic strategies: direct inhibitors, allosteric modulators, biologics, repurposed drugs
DetailsDOI ↗

genetics

9 sources

Grade Acohortn=2912Unverified

Landscape of somatic mutations in a large cohort of Chinese patients with immune dysregulations

Fu J, Fu Q, Wang J, et al. · Arthritis Rheumatol · 2026

  • ●Systematic somatic mutation analysis across 185 immune-related genes in 2912 autoinflammatory/autoimmune patients from 41 Chinese centers
  • ●Novel somatic TNFAIP3 mutations identified in autoinflammatory disease for the first time
  • ●Myeloid cells harboring somatic mutations (including NLRP3) expand during flare and contract during remission
DetailsDOI ↗

clinical

12 sources

treatment

11 sources

diagnosis

2 sources

epidemiology

1 sources