A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings

A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings

STING-associated vasculopathy of infantile-onset (SAVI) is one of the newly identified types of interferonopathies. SAVI is caused by heterozygous gain-of-function mutations in the STING1. We herein report for the first time a homozygous variant in the STING1 gene in two siblings that resulted in co...

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Bibliographic Details
Main Authors: Malak Ali Alghamdi, Jaazeel Mulla, Narjes Saheb Sharif-Askari, Francisco J. Guzmán-Vega, Stefan T. Arold, Mervat Abd-Alwahed, Nasser Alharbi, Tarek Kashour, Rabih Halwani
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-01-01
Series:Frontiers in Immunology
Subjects:
interferonopathies
pulmonary inflammation
SAVI
JAK inhibitor
STING-associated vasculopathy of infancy
cutaneous vasculopathy
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2020.599564/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2020.599564/full

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