Article
Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC).
Pediatric rheumatology online journal - 18 Oct 2024
Asna Ashari Kosar, Parvaneh Nima, Mirnia Kayvan, Ayati Mehri, Saeedi Maryam, Salehzadeh Farhad, Shahrooei Mohammad, Sangsari Razieh, Rohani Pejman, Ziaee Vahid
Abstract excerpt
BACKGROUND: Gain of function (GOF) mutations in NOD-like receptor family CARD-containing 4 protein (NLRC4) gene induce a wide spectrum of autoinflammatory phenotypes. Currently, we categorize them into four groups: familial cold autoinflammatory syndrome (FCAS)4, autoinflammatory infantile enterocolitis (AIFEC), NLRC4-macrophage associated syndrome (MAS), and neonatal-onset multisystem inflammatory disease...
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