Autoinflammatory diseases are inborn disorders of the innate immune system characterized by episodes of systemic inflammation that are mediated largely by myeloid cells. The field of autoinflammatory diseases has been established since 1999, following the identification of the first genes underlying periodic fever syndromes. This review focuses on developments that have transformed the field in the last two years. We discuss three newly described monogenic autoinflammatory diseases [deficiency of adenosine deaminase 2 (DADA2), a subtype of macrophage activation syndrome (MAS), and stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI)], discuss the possibilities of somatic mosaicism and digenic inheritance, and give an update on new concepts in pathways involved in familial Mediterranean fever (FMF). Finally, the new monogenic autoinflammatory disease haploinsufficiency of A20 (HA20) underscores the placement of monogenic diseases in the firmament of common autoinflammatory phenotypes. The advances in the last two years have shed light on the pathophysiology of several autoinflammatory diseases and have elucidated new pathways that play a role in innate immunity.

中文翻译：

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老狗，新技巧：单发性自身炎症性疾病释放。

自身炎症性疾病是先天性免疫系统的先天性疾病，其特征是全身性炎症发作（主要由髓样细胞介导）。自从发现了周期性发热综合征的首批基因后，自1999年以来就建立了自身炎症性疾病领域。这篇综述着眼于过去两年改变了该领域的发展。我们讨论了三种新近描述的单基因自身炎症性疾病[腺苷脱氨酶2（DADA2）缺乏，巨噬细胞活化综合征（MAS）的亚型以及与婴儿期发作的干扰素基因（STING）相关的血管病的刺激物（SAVI）]，并讨论了体细胞镶嵌和双基因遗传的可能性，并提供有关家族性地中海热（FMF）途径的新概念的最新信息。最后，新的A20单基因自身炎性疾病单倍功能不足（HA20）强调了单基因疾病在常见自身炎性表型中的地位。最近两年的进展揭示了几种自身炎症性疾病的病理生理学，并阐明了在先天免疫中起作用的新途径。