Autoinflammation with infantile enterocolitis

Autoinflammation with infantile enterocolitis (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.

免疫系疾患

NLRC4 [HSA:58484] [KO:K12805]

PMID:25217959

Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, DiMattia MA, Zaal KJ, Sanchez GA, Kim H, Chapelle D, Plass N, Huang Y, Villarino AV, Biancotto A, Fleisher TA, Duncan JA, O'Shea JJ, Benseler S, Grom A, Deng Z, Laxer RM, Goldbach-Mansky R

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.

Nat Genet 46:1140-6 (2014)
DOI:10.1038/ng.3089

PMID:25217960

Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

Nat Genet 46:1135-9 (2014)
DOI:10.1038/ng.3066