Autoinflammation with infantile enterocolitis associated with a novel CARD domain mutation in

Background: Autoinflammation with Infantile Enterocolitis (AIFEC, OMIM#616050) is a rare autosomal dominant autoinflammatory disorder caused by gain-of-function mutations in the NLRC4 gene. The disease is characterized by recurrent systemic inflammatory flares with enterocolitis as a hallmark feature, though clinical presentations are broad and often nonspecific. Case presentation: This report describes a noteworthy case of a pediatric patient with rare NLRC4 gene mutation leading to AIFEC. The patient was a 2-year-and-4-month-old female who presented with recurrent fever, chronic diarrhea, mucous bloody stools, and multi-system involvement. She had a history of multiple infections since early childhood. Laboratory investigations indicated significantly elevated inflammatory markers and endoscopic examination revealed multiple ulcers in the ileocolonic region. Whole-exome sequencing identified a Conclusion: This case identifies a novel NLRC4 variant (c.167A > G, p.His56Arg) located in the CARD domain. Our findings expand the known mutational and phenotypic spectrum of AIFEC and add to emerging clinical evidence suggesting the potential utility of infliximab as a targeted therapeutic option for this rare autoinflammatory condition.