A number of systemic autoinflammatory diseases arise from gain-of-function mutations in
genes encoding IL-1–activating inflammasomes or cytoplasmic nucleic acid sensors …

Rapid advances in genetics are providing unprecedented insight into functions of the innate
immune system with identification of the mutations that cause monogenic autoinflammatory …

Mendelian autoinflammatory diseases characterized by constitutive activation of the type I
interferon pathway, the so-called type I interferonopathies, constitute a rapidly expanding …

STING-associated vasculopathy with onset in infancy (SAVI) is a type I interferonopathy
caused by gain-of-function mutations in STING1 encoding stimulator of interferon genes …

Inflammasomes are multiprotein complexes capable of sensing pathogen-associated
molecular patterns (PAMPs), danger-associated molecular patterns (DAMPs), and cellular …

The discovery of the genetic causes of a rare group of immune-mediated inflammatory
conditions that mimic infections and allergic conditions in their clinical presentation and the …

The central function of IL-1ß in fever regulation was recognized with its discovery 30 years
ago (1). It was an attractive candidate as a master regulator in the pathogenesis of the …

Background Gain-of-function mutations in transmembrane protein 173 (TMEM173) encoding
stimulator of interferon genes (STING) underlie a recently described type I interferonopathy …

Highlights•GOF mutations in four inflammasome-complex forming sensors cause IL-1
mediated SAIDs.•GOF mutations in viral sensors cause SAIDs with prominent blood IFN …

Autoinflammation describes a collection of diverse diseases caused by indiscriminate
activation of the immune system in an antigen-independent manner. The rapid advancement …