没有捷径可走：新发现强化了为何在遗传性自身炎症综合征中细微差别才是准则的原因。
No shortcuts: new findings reinforce why nuance is the rule in genetic autoinflammatory syndromes.
作者信息
Tsoukas Paul, Canna Scott W
机构信息
aDepartment of Pediatric Rheumatology, Children's Hospital of Pittsburgh of UPMC bRichard King Mellon Institute for Pediatric Research, Pittsburgh, Pennsylvania, USA.
出版信息
Curr Opin Rheumatol. 2017 Sep;29(5):506-515. doi: 10.1097/BOR.0000000000000422.
PURPOSE OF REVIEW
Practitioners 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 FINDINGS
Major developments in pyrin inflammasome biology, defective ubiquitination, and the hyperferritinemic syndromes will be highlighted.
SUMMARY
We 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.
综述目的
被自身炎症不断演变的概念搞得晕头转向的从业者并不孤单。尽管自身炎症性疾病患者带来了临床挑战，但对他们的研究对于我们理解人类基本炎症至关重要。本综述将聚焦于基因介导的自身炎症方面的最新发现如何拓展和完善这一概念。
最新发现
将重点介绍吡喃素炎性小体生物学、泛素化缺陷和高铁蛋白血症综合征的主要进展。
总结
我们简要讨论了自身炎症中的不一致性、趋同性、基因型和表型。此外，我们还介绍了突变剂量效应和混合命名法的概念。总体而言，我们希望提供自身炎症领域的进展更新，一些有助于应对不断涌现的发现浪潮的概念工具，并鼓励大家跟上自身炎症领域的发展，这既令人兴奋又很有必要。
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