has material basis in germline mutation in STING1 vascular disorder STING-associated vasculopathy with onset in infancy https://github.com/monarch-initiative/mondo/issues/6748 https://github.com/monarch-initiative/mondo/issues/7365 https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy https://www.malacards.org/card/sting_associated_vasculopathy_infantile_onset https://www.malacards.org/card/sting_associated_vasculopathy_with_onset_in_infancy STING-associated vasculopathy, infantile-onset OMIM:615934 MEDGEN:863159 ICD9:279.8 GARD:0012357 DOID:0111457 SAVI MONDO:0014405 UMLS:C4014722 SCTID:711164003 STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation. Orphanet:425120 inflammatory disease hereditary disorder of connective tissue type 1 interferonopathy of childhood