Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.
Frémond ML, Hadchouel A, Berteloot L, Melki I, Bresson V, Barnabei L, Jeremiah N, Belot A, Bondet V, Brocq O, Chan D, Dagher R, Dubus JC, Duffy D, Feuillet-Soummer S, Fusaro M, Gattorno M, Insalaco A, Jeziorski E, Kitabayashi N, Lopez-Corbeto M, Mazingue F, Morren MA, Rice GI, Rivière JG, Seabra L, Sirvente J, Soler-Palacin P, Stremler-Le Bel N, Thouvenin G, Thumerelle C, Van Aerde E, Volpi S, Willcocks S, Wouters C, Breton S, Molina T, Bader-Meunier B, Moshous D, Fischer A, Blanche S, Rieux-Laucat F, Crow YJ, Neven B.
Frémond ML, et al.
J Allergy Clin Immunol Pract. 2021 Feb;9(2):803-818.e11. doi: 10.1016/j.jaip.2020.11.007. Epub 2020 Nov 18.
J Allergy Clin Immunol Pract. 2021.
PMID: 33217613
Free article.
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 characterized by early-onset systemic inflammation, ski …
BACKGROUND: Gain-of-function mutations in STING1 underlie a type I interferonopathy termed SAVI (STING-associated vasculopa …