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Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Archive ouverte | Frémond, Marie-Louise | CCSD

International audience. Background: Gain-of-function mutations in STING1 underlie a type I interferonopathy termed SAVI (STING-associated vasculopathy with onset in infancy). This severe disease is variably characte...

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Archive ouverte | Frémond, Marie-Louise | CCSD

International audience. Heterozygous missense mutations in COPA, encoding coatomer protein subunit alpha (COPA), cause an interferonopathy mainly associating lung, joint and kidney involvement. This rare autoinflamm...

Le recyclage de STING par COPA freine l’inflammation

Archive ouverte | Lepelley, Alice | CCSD

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