A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

BackgroundMutations in the gene encoding stimulator of interferon genes (STING) underlie a type I interferon (IFN) associated disease, STING-associated vasculopathy with onset in infancy (SAVI). Patients suffer cutaneous vasculopathy and interstitial lung disease, but are not known to suffer life-th...

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Bibliographic Details
Main Authors: Rohit G. Saldanha, Katherine R. Balka, Sophia Davidson, Brynn K. Wainstein, Melanie Wong, Rebecca Macintosh, Christine K. C. Loo, Martin A. Weber, Vasanth Kamath, CIRCA, AADRY, Fiona Moghaddas, Dominic De Nardo, Paul Edgar Gray, Seth Lucian Masters
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-07-01
Series:Frontiers in Immunology
Subjects:
stimulator of interferon genes
STING-associated vasculopathy with onset in infancy
interferon
NF-κB
JAK
immunodeficiency
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2018.01535/full

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https://www.frontiersin.org/article/10.3389/fimmu.2018.01535/full

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