Treatment of autoinflammatory syndromes

Inherited autoinflammatory diseases are experiments in nature in which mutations of proteins playing a pivotal role in the regulation of the innate immunity lead to unprovoked episodes of inflammation. The understanding of the molecular pathways involved in these disorders has shed a new light on the pattern of activation and maintenance of the inflammatory response and disclosed new molecular therapeutic targets. In this review, we outline the more recent novelties in the treatment of autoinflammatory diseases and their possible implications for some multifactorial pediatric conditions.

Cryopyrin-associated periodic syndrome (CAPS) represents the prototype of autoinflammatory diseases. The study of the pathophysiological consequence of mutations of the cryopyrin gene (NLRP3) allowed the identification of the intracellular pathways thought to play a pivotal part in the activation and secretion of the potent inflammatory cytokine interleukin (IL)-1β. The dramatic effect of IL-1 blockade in CAPS opens new perspectives for the treatment of other inherited and multifactorial inflammatory disorders. A number of IL-1 blockers are now available on the market.

Studies on the pathogenesis and treatment of inherited autoinflammatory diseases are also changing the approach to some multifactorial inflammatory conditions.