C177547Level 7
STING-Associated Vasculopathy, Infantile-Onset
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant condition caused by mutation(s) in the STING1 gene, encoding stimulator of interferon genes protein. It is characterized by an autoinflammatory vasculopathy resulting in severe skin lesions.
**Synonyms:** - SAVI
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