The Journal of allergy and clinical immunology
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J. Allergy Clin. Immunol. · Aug 2017
Case ReportsDisease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.
Gain-of-function mutations in transmembrane protein 173 (TMEM173) encoding stimulator of interferon genes (STING) underlie a recently described type I interferonopathy called STING-associated vasculopathy with onset in infancy (SAVI). ⋯ Structural analysis indicates that the 3 disease-associated mutations at positions 206, 281, and 284 of the STING protein define a novel cluster of amino acids with functional importance in the regulation of type I interferon signaling.