Article
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.
The journal of allergy and clinical immunology. In practice - 1 Feb 2021
Frémond Marie-Louise, Hadchouel Alice, Berteloot Laureline, Melki Isabelle, Bresson Violaine, Barnabei Laura, Jeremiah Nadia, Belot Alexandre, Bondet Vincent, Brocq Olivier, Chan Damien, Dagher Rawane, Dubus Jean-Christophe, Duffy Darragh, Feuillet-Soummer Séverine, Fusaro Mathieu, Gattorno Marco, Insalaco Antonella, Jeziorski Eric, Kitabayashi Naoki, Lopez-Corbeto Mireia, Mazingue Françoise, Morren Marie-Anne, Rice Gillian I, Rivière Jacques G, Seabra Luis, Sirvente Jérôme, Soler-Palacin Pere, Stremler-Le Bel Nathalie, Thouvenin Guillaume, Thumerelle Caroline, Van Aerde Eline, Volpi Stefano, Willcocks Sophie, Wouters Carine, Breton Sylvain, Molina Thierry, Bader-Meunier Brigitte, Moshous Despina, Fischer Alain, Blanche Stéphane, Rieux-Laucat Frédéric, Crow Yanick J, Neven Bénédicte
Abstract excerpt
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, skin vasculopathy, and interstitial lung disease (ILD). OBJECTIVE: To describe a cohort of patients with SAVI. METHODS: Assessment of clinical, radiological and immunological data...
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