biostudies-literatureUnknown10Shindo RStimulator of interferon genes (STING) is essential for the type I interferon response induced by microbial DNA from viruses or self-DNA from mitochondria/nuclei. Recently, gain-of-function mutations in STING have been identified in patients with STING-associated vasculopathy with onset in infancy (SAVI). The SAVI patients exhibit complex systemic vascular inflammation and interstitial lung disease, resulting in pulmonary fibrosis and respiratory failure. SAVI mouse models have recently developed, harbouring common SAVI mutations, such as N153S and V154M, which correspond to the human N154S and V155M, respectively. Interestingly, crosses of heterozygous SAVI mice did not yield homozygous SAVI mice as of embryonic day 14, indicating that homozygous SAVI embryos were not viable and that wildFrontiers in cell and developmental biology1037999https://www.ebi.ac.uk/biostudies/studies/S-EPMC9682468biostudies-literatureThe activity of disease-causative STING variants can be suppressed by wild-type STING through heterocomplex formation.PMC9682468Shindo RKuchitsu YMukai KTaguchi TfalseThe activity of disease-causative STING variants can be suppressed by wild-type STING through heterocomplex formation.Stimulator of interferon genes (STING) is essential for the type I interferon response induced by microbial DNA from viruses or self-DNA from mitochondria/nuclei. Recently, gain-of-function mutations in STING have been identified in patients with STING-associated vasculopathy with onset in infancy (SAVI). The SAVI patients exhibit complex systemic vascular inflammation and interstitial lung disease, resulting in pulmonary fibrosis and respiratory failure. SAVI mouse models have recently developed, harbouring common SAVI mutations, such as N153S and V154M, which correspond to the human N154S and V155M, respectively. Interestingly, crosses of heterozygous SAVI mice did not yield homozygous SAVI mice as of embryonic day 14, indicating that homozygous SAVI embryos were not viable and that wild2022-01-01T00:00:00Z20222026-04-08T03:22:17.46Z2024-11-07T00:51:28.628ZS-EPMC96824683643857110.3389/fcell.2022.1037999