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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Detalles Bibliográficos
Autores principales: Wan, Rensheng, Fänder, Johannes, Zakaraia, Ia, Lee-Kirsch, Min Ae, Wolf, Christine, Lucas, Nadja, Olfe, Lisa Isabel, Hendrich, Corinna, Jonigk, Danny, Holzinger, Dirk, Steindor, Mathis, Schmidt, Gunnar, Davenport, Claudia, Klemann, Christian, Schwerk, Nicolaus, Griese, Matthias, Schlegelberger, Brigitte, Stehling, Florian, Happle, Christine, Auber, Bernd, Steinemann, Doris, Wetzke, Martin, von Hardenberg, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9583393/
https://www.ncbi.nlm.nih.gov/pubmed/36275728
http://dx.doi.org/10.3389/fimmu.2022.1029423

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