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Article

A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings.

Frontiers in immunology - 1 Jan 2020

Alghamdi Malak Ali, Mulla Jaazeel, Saheb Sharif-Askari Narjes, Guzmán-Vega Francisco J, Arold Stefan T, Abd-Alwahed Mervat, Alharbi Nasser, Kashour Tarek, Halwani Rabih

Abstract excerpt

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 constitutive activation of STING gene and the SAVI phenotype. Exome sequencing revealed a novel homozygous...

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Identifiers

PMID: 33488593
DOI: 10.3389/fimmu.2020.599564
PMCID: PMC7820697

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