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Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature
STING-associated vasculopathy with onset in infancy (SAVI) is an autosomal dominant disorder due to gain-of-function mutations in STING1, also known as TMEM173, encoding for STING. It was reported as a vasculopathy of infancy. However, since its description a wider spectrum of associated manifestati...
Autores principales: | Staels, Frederik, Betrains, Albrecht, Doubel, Peter, Willemsen, Mathijs, Cleemput, Vincent, Vanderschueren, Steven, Corveleyn, Anniek, Meyts, Isabelle, Sprangers, Ben, Crow, Yanick J., Humblet-Baron, Stephanie, Liston, Adrian, Schrijvers, Rik |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7550674/ https://www.ncbi.nlm.nih.gov/pubmed/33133092 http://dx.doi.org/10.3389/fimmu.2020.575219 |
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