NF-κB

Transcription factor — inflammatory amplifier

Expression
Constitutively activated
Evidence level
established

Role in pathogenesis

ER-retained mutant TNFR1 constitutively activates NF-κB signalling, driving transcription of pro-inflammatory cytokines including IL-1β, IL-6, and TNF-α. NF-κB activation occurs via both canonical and non-canonical pathways.

Sources (2)

DetailsLobito AA et al. (2006) Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TRAPS · BloodDOI ↗
DetailsCudrici C et al. (2020) Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives · Int J Mol SciDOI ↗