STING-associated vasculopathy with onset in infancy is an autosomal dominant autoinflammatory disorder caused by mutations of the TMEM173 gene (STimmulator of INterferne Genes). Tthe disease is characterized by small vessel vasculopythy with skin, joint, and pulmonary damage. The onset is in childhood when patients present with low-grade fever, cough, and failure to thrive.
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Liu Y et. al. (2014) Activated STING in a vascular and pulmonary syndrome. |
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Jeremiah N et. al. (2014) Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. |