Phenotype, Genotype, and Sustained Response to Anakinra in 22 Patients With Autoinflammatory Disease Associated With CIAS-1/NALP3 Mutations

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Abstract
The inherited periodic fever syndromes are characterized by recurrent attacks of fever with systemic inflammation that often includes skin manifestations. They can be complicated by AA (reactive systemic) amyloidosis, which typically presents as progressive renal dysfunction. Characterized syndromes include familial Mediterranean fever, tumor necrosis factor receptor–associated periodic syndrome, and hyperimmunoglobulin D and periodic fever syndrome. In 2001, the 3 separately described syndromes of familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID) were attributed to mutations in the gene encoding NALP3, a protein that is also known as cryopyrin.1,2 Familial cold autoinflammatory syndrome was first described in 19403 and is an autosomal dominant disorder characterized by cold-induced rash, fever, and distal arthralgia. Muckle-Wells syndrome, described in 1962,4 is another autosomal dominant disorder characterized by the triad of deafness, urticarial rashes, and reactive AA amyloidosis. Neonatal-onset multisystem inflammatory disorder, the most severe disorder, is usually sporadic and manifests at birth with inflammation affecting many organ systems, including skin, joints, and central nervous system.5 It is apparent that FCAS, MWS, and NOMID represent a spectrum of disease intensity with overlapping features.6,7

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