Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI)

J Clin Immunol. 2020 Nov;40(8):1111-1115. doi: 10.1007/s10875-020-00850-2. Epub 2020 Aug 29.


Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a rare disorder that is associated with extensive inflammation throughout the body due to a high interferon state. Common clinical manifestations of this disorder include chronic lung disease, digital necrosis, recurrent low-grade fevers, and inflammatory skin lesions. However, renal involvement in patients with SAVI has been sparsely documented. We describe a unique case of pediatric SAVI associated with thrombotic microangiopathy (TMA), collapsing focal segmental glomerulosclerosis, interstitial lung disease (from SAVI involvement), and chronic kidney disease. This patient had a substantial hospital course where he developed renal failure. Extensive studies were conducted to exclude all other causes, including infection and possible drug side effects. Ultimately, immunologic evaluation demonstrated normal complement studies, a low ADAMTS13, and presence of ADAMTS13 inhibitor. There was also evidence of thrombocytopenia and schistocytes on peripheral blood smear. Subsequently, the patient was diagnosed with TMA and he was treated with fresh frozen plasma. Repeat immunologic studies confirmed that the TMA had resolved. In addition to describing a novel association between TMA and SAVI, this case also illustrates the challenges associated with optimizing treatment regimens and the importance of clinical vigilance for atypical complications that may arise in patients with SAVI.

Keywords: STING-associated vasculopathy with onset in infancy; case report; thrombotic microangiopathy.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Lung Diseases, Interstitial / diagnosis
  • Lung Diseases, Interstitial / etiology
  • Membrane Proteins / genetics*
  • Mutation
  • Phenotype*
  • Renal Insufficiency, Chronic
  • Skin Diseases / diagnosis
  • Skin Diseases / etiology
  • Thrombotic Microangiopathies / diagnosis*
  • Thrombotic Microangiopathies / etiology*
  • Vascular Diseases / diagnosis
  • Vascular Diseases / genetics


  • Membrane Proteins
  • STING1 protein, human