No shortcuts: new findings reinforce why nuance is the rule in genetic autoinflammatory syndromes


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Abstract

Purpose of reviewPractitioners dazed by the evolving concept of autoinflammation are in good company. Despite the clinical challenges autoinflammatory patients present, their study has been fundamental to our understanding of basic human inflammation. This review will focus on the ways in which recent discoveries in genetically mediated autoinflammation broaden and refine the concept.Recent findingsMajor developments in pyrin inflammasome biology, defective ubiquitination, and the hyperferritinemic syndromes will be highlighted.SummaryWe offer a brief discussion of discordance, convergence, genotype, and phenotype in autoinflammation. Additionally, we introduce the concepts of mutation dose effect and hybrid nomenclature. Overall, we hope to provide an update on developments in the field of autoinflammation, some conceptual tools to help navigate the rising tide of discovery, and some encouragement that keeping up with developments in autoinflammation is both exciting and necessary.

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