Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases

Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases

Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1 (STING1) gene cause STING-Associated Vasculopathy with onset in Infancy (SAVI). Previously, only heterozygous and mostly de novo STING1 variants have been reported to cause SAVI. Interestingly, one variant that onl...

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Bibliographic Details
Main Authors: Rensheng Wan, Johannes Fänder, Ia Zakaraia, Min Ae Lee-Kirsch, Christine Wolf, Nadja Lucas, Lisa Isabel Olfe, Corinna Hendrich, Danny Jonigk, Dirk Holzinger, Mathis Steindor, Gunnar Schmidt, Claudia Davenport, Christian Klemann, Nicolaus Schwerk, Matthias Griese, Brigitte Schlegelberger, Florian Stehling, Christine Happle, Bernd Auber, Doris Steinemann, Martin Wetzke, Sandra von Hardenberg
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Immunology
Subjects:
STING1
STING-associated vasculopathy of infancy
SAVI
pulmonary inflammation
interferonopathies
stimulator of interferon genes
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.1029423/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2022.1029423/full

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