Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation

Gain-of-function mutations in STING1 cause the monogenic interferonopathy, SAVI, which presents with early-onset systemic inflammation, cold-induced vasculopathy and/or interstitial lung disease. We identified 5 patients (3 kindreds) with predominantly peripheral vascular disease who harbor 3 novel...

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Detalles Bibliográficos
Autores principales: Lin, Bin, Torreggiani, Sofia, Kahle, Dana, Rumsey, Dax G., Wright, Benjamin L., Montes-Cano, Marco A., Silveira, Laura Fernandez, Alehashemi, Sara, Mitchell, Jacob, Aue, Alexander G., Ji, Zheng, Jin, Tengchuan, de Jesus, Adriana A., Goldbach-Mansky, Raphaela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023226/
https://www.ncbi.nlm.nih.gov/pubmed/33833757
http://dx.doi.org/10.3389/fimmu.2021.636225

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023226/
https://www.ncbi.nlm.nih.gov/pubmed/33833757
http://dx.doi.org/10.3389/fimmu.2021.636225

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