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)

• Main Authors: Kosar Asna Ashari (Author), Nima Parvaneh (Author), Kayvan Mirnia (Author), Mehri Ayati (Author), Maryam Saeedi (Author), Farhad Salehzadeh (Author), Mohammad Shahrooei (Author), Razieh Sangsari (Author), Pejman Rohani (Author), Vahid Ziaee (Author)
• Format: Book
• Published: BMC, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 e...