Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature

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...

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Bibliographic Details
Main Authors: Frederik Staels, Albrecht Betrains, Peter Doubel, Mathijs Willemsen, Vincent Cleemput, Steven Vanderschueren, Anniek Corveleyn, Isabelle Meyts, Ben Sprangers, Yanick J. Crow, Stephanie Humblet-Baron, Adrian Liston, Rik Schrijvers
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Immunology
Subjects:
SAVI
vasculopathy
glomerulonephritis
primary immunodeficiency
interferonopathy
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2020.575219/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2020.575219/full

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