Abstract
Background FMF is a systemic auto-inflammatory disorder, characterized by recurrent episodes of fever and serosal inflammation. The MEF gene, which is associated with FMF, encodes for the protein pyrin. FMF associated mutations, interrupt with pyrin normal function, leading to activation of the innate immune system and overexpression of IL-1b, and consequently to a systemic inflammatory response. Toll-like receptors (TLRs) play an essential role in the innate immune responses, by recognition of pathogenassociated molecular patterns and endogenous peptides. TLRs trigger a cascade of signaling events, leading to cytokine production. TLR2 is implicated in several inflammatory conditions, but its role in the pathogenesis of FMF is not completely clear.
Highlights
FMF is a systemic auto-inflammatory disorder, characterized by recurrent episodes of fever and serosal inflammation
The MEF gene, which is associated with FMF, encodes for the protein pyrin
Toll-like receptors (TLRs) trigger a cascade of signaling events, leading to cytokine production
Summary
FMF is a systemic auto-inflammatory disorder, characterized by recurrent episodes of fever and serosal inflammation. The MEF gene, which is associated with FMF, encodes for the protein pyrin. FMF associated mutations, interrupt with pyrin normal function, leading to activation of the innate immune system and overexpression of IL-1b, and to a systemic inflammatory response. Toll-like receptors (TLRs) play an essential role in the innate immune responses, by recognition of pathogenassociated molecular patterns and endogenous peptides. TLRs trigger a cascade of signaling events, leading to cytokine production. TLR2 is implicated in several inflammatory conditions, but its role in the pathogenesis of FMF is not completely clear
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