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The autoinflammatory diseases constitute a family of disorders characterized by aberrant activation of inflammatory pathways in the absence of antigendirected autoimmunity. Since autoinflammatory diseases prominently involve mediators and cells of the innate immune system, they may broadly be considered to represent primary diseases of innate immunity, though cells more typically associated with adaptive immunity (such as lymphocytes) could potentially also contribute to autoinflammation. The best characterized autoinflammatory diseases are relatively rare but florid conditions arising from mutations in single genes. These include the periodic fever syndromes (familial Mediterranean fever [FMF], TNF receptor-1 associated periodic syndrome [TRAPS]), the hyper-IgD syndrome; periodic fevers with aphthous stomatitis pharyngitis and adenitis (PFAPA) syndrome; and the three overlapping syndromes related to mutations in the gene for the protein cryopyrin (familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal onset multisystem inflammatory disease).

Autoinflammatory Diseases & The Periodic Fever Syndromes