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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820697/
https://www.ncbi.nlm.nih.gov/pubmed/33488593
http://dx.doi.org/10.3389/fimmu.2020.599564

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820697/
https://www.ncbi.nlm.nih.gov/pubmed/33488593
http://dx.doi.org/10.3389/fimmu.2020.599564

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