STING-associated vasculopathy with onset in infancy
Findings
No curated finding names STING-associated vasculopathy with onset in infancy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014405), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cutis marmorataHPOHP:0000965
- 6 of 6 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 5 of 5 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 9 of 9 reported patients
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 9 of 9 reported patients
- Failure to thriveHPOHP:0001508
- 10 of 10 reported patients
- Follicular hyperplasiaHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- STING1HGNC:27962
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: STING-associated vasculopathy with onset in infancy
- Also called
- SAVI