STING-associated vasculopathy with onset in infancy

STING-associated vasculopathy with onset in infancy (SAVI) is a rare genetic autoinflammatory disorder. It is caused by continuous activation of the STING protein, leading to systemic inflammation from infancy. The condition is marked by inflammation affecting small blood vessels, which can lead to skin, lung, and joint complications. People with this condition may experience severe skin lesions, lung disease, and joint problems starting in the neonatal or infantile period. The skin symptoms can worsen with cold exposure and progress to more serious complications such as ulcers or tissue damage. This disorder is part of a group of conditions known as type I interferonopathies due to its association with high levels of interferon production.

Common symptoms include intermittent low-grade fever, a recurrent cough, and failure to thrive. People may also experience progressive interstitial lung disease, joint pain (polyarthritis), and characteristic violaceous scaling lesions on the fingers, toes, nose, cheeks, and ears which can worsen with cold exposure. Over time, these skin lesions can progress to chronic ulcers, necrosis, and in some cases, autoamputation.

SAVI is a genetic condition caused by mutations in the STING1 gene. This mutation leads to the continuous activation of the STING protein, resulting in an overproduction of type I interferon and a related inflammatory response. The condition is inherited, although the exact pattern of inheritance was not detailed in the available sources.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.