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 …

Pulmonary fibrosis is a progressive and ultimately fatal lung disease, exhibiting the
excessive production of extracellular matrix and aberrant activation of fibroblast. While …

Introduction Autoinflammatory diseases (AID) are rare diseases presenting with episodes of
sterile inflammation. These involve multiple organs and can cause both acute organ …

The cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) signaling
pathway serves as a pivotal mediator of innate immunity by triggering the secretion of type I …

Among inborn errors of immunity (IEIs), some conditions are characterized by inflammation
and autoimmunity at the front line and are particularly challenging to treat. Monogenic …

Mediator of IRF3 activation (MITA, also known as stimulator of interferon genes (STING) and
endoplasmic reticulum interferon stimulator (ERIS)) is an ER-associated protein that senses …

Stimulator of Interferon Gene (STING) is a critical signaling linker protein that plays a crucial
role in the intrinsic immune response, particularly in the cytoplasmic DNA-mediated immune …

Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1
(STING1) gene cause STING-Associated Vasculopathy with onset in Infancy (SAVI) …

Understanding how a gene variant affects protein function is important in life science, as it
helps explain traits or dysfunctions in organisms. In a clinical setting, this understanding …

The family of autoinflammatory diseases (AIDs) continues to expand and now includes over
40 genetically defined disorders. Their defining feature is a dysregulated inflammatory …