Pediatric rheumatology

Distinct expression profiles of inflammasome-associated genes in systemic juvenile idiopathic arthritis

Rheumatology (Oxford)Published Mechanistic study

Authors' conclusion

NLRC4, AIM2 inflammasome and CASP5 activation may play an important role in s-JIA. IRF1 may be associated with the development of MAS. The distinct expression profile of inflammasome-associated genes in s-JIA may indicate the heterogeneity of s-JIA.

Study context

Population
Patients with sJIA, including sJIA-associated macrophage activation syndrome (MAS), and healthy controls; whole blood sampled at diagnosis
Participants
16 / 4 / 10
Comparison
sJIA vs healthy controls
  • Systemic JIA (s-JIA)n = 16
  • MASn = 4
  • Healthy controls (HCs)n = 10reference
Outcome
mRNA expression of inflammasome-associated genes (Human Inflammasomes RT2 Profiler PCR Array)
Follow-up
Upon diagnosis with s-JIA or MAS
Methodological detailsgene expression profiling (polymerase chain reaction (PCR) array)
  • Gene expression profiling (PCR array)

Main finding

As reported in the abstract

Inflammasome-associated gene mRNA expression
  • Six genes (NLRC4, AIM2, CASP5, NAIP, TNFSF4, MAPK11) significantly elevated in s-JIA vs HCs
  • IRF1 and NFKB1A significantly elevated in MAS vs s-JIA in the acute phase
  • s-JIA expression clustered into two distinct groups: MYD88-dominant and NLRC5-dominant
  • MYD88-dominant group had a significantly higher number of joints with active disease

Original publication

Distinct expression profiles of inflammasome-associated genes in systemic juvenile idiopathic arthritis. Rheumatology (Oxford). Published 30 October 2025. doi:10.1093/rheumatology/keaf576

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