NLRC4 inflammasomopathy

Definition:

The NLRC4 inflammasomopathies comprise a growing autoinflammatory disease category that spans a broad clinical spectrum from cold urticaria to the autoinflammation with infantile enterocolitis (AIFEC). AIFEC is a rare autosomal dominant disease characterized by neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation. It was shown that the disease is caused by gain-of-function mutations in NLRC4. NLRC4 protein is known to directly assemble inflammasomes that activate IL-1beta and IL-18.

References:

[1]. Neil Romberg, et al. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet. 2014 Oct;46(10):1135-1139. [Content Brief]

[2]. Neil Romberg, et al. NLRC4 inflammasomopathies. Curr Opin Allergy Clin Immunol. 2017 Dec;17(6):398-404. [Content Brief]

[3]. Scott W Canna, et al. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet. 2014 Oct;46(10):1140-6. [Content Brief]

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