Article
The autoinflammation-associated NLRC4V341A mutation increases microbiota-independent IL-18 production but does not recapitulate human autoinflammatory symptoms in mice.
Frontiers in immunology - 1 Jan 2023
Eeckhout Elien, Asaoka Tomoko, Van Gorp Hanne, Demon Dieter, Girard-Guyonvarc'h Charlotte, Andries Vanessa, Vereecke Lars, Gabay Cem, Lamkanfi Mohamed, van Loo Geert, Wullaert Andy
Abstract excerpt
Background: Autoinflammation with infantile enterocolitis (AIFEC) is an often fatal disease caused by gain-of-function mutations in the NLRC4 inflammasome. This inflammasomopathy is characterized by macrophage activation syndrome (MAS)-like episodes as well as neonatal-onset enterocolitis. Although elevated IL-18 levels were suggested to take part in driving AIFEC pathology, the triggers for IL-18 production and...
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