Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists. 1. Introduction In the recent years, the identification of genes involved in the modulation of inflammatory and apoptotic processes and the improved understanding of mechanisms linked to the aberrant activation of the inflammasome, amultiprotein intracytoplasmatic scaffold complex synthesizing the biologically active interleukin- (IL-1), the prototypic master cytokine affecting nearly all cell types, have allowed the delineation of a new group of diseases called “monogenic autoinflammatory syndromes (MAISs)” [1]. From the etiopathogenetic point of view, in spite of the heterogeneity of genes responsible for the various MAISs (Table 1), the inflammasome represents an ideal point of convergence of most of these diseases, that is, the cell structure crucial to the regulation of innate immunity: its proper assembly allows for regular activation of caspase-1 and physiological production of proinflammatory cytokines, in primis IL-1β, necessary to respond to a heap of different danger signals, as bacterial peptidoglycans, genotoxic stress, and crystals. In the pathogenesis of many MAISs, the erroneous assembly of the inflammasome leads to an exaggerated conversion of pro-IL-1β to its active form and subsequent disproportionate overwhelming inflammatory response [2]. Table 1: Classification of the monogenic autoinflammatory syndromes. The term “autoinflammatory,” used in contrast to the term “autoimmune,”
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