An animal model of NLRC4-associated autoinflammation and infantile enterocolitis reveals novel therapeutic strategies.

ABSTRACT: Inflammasomes, particularly NLRC4, play crucial roles in immune responses to intracellular bacterial infections. However, gain-of-function mutations in NLRC4 are linked to severe autoinflammatory diseases, including autoinflammation with infantile enterocolitis (AIFEC). AIFEC patients who survive infancy typically have no further intestinal symptoms but retain susceptibility to macrophage activation syndrome (MAS). However, existing mouse models do not adequately replicate the inflammation observed in AIFEC patients. To better understand this, we developed a mouse model capable of conditional expression of the activating V341A mutation in NLRC4 (NLRC4-V341A KI). Global conversion to NLRC4-V341A at the germline resulted in symptoms closely mirroring those of human AIFEC, including severe in

SUBMITTER: Wang Y 

PROVIDER: S-EPMC12660311 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature