Article
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.
Frontiers in immunology - 1 Jan 2022
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
Abstract excerpt
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 only leads to SAVI when homozygous, namely c.841C>T p.(Arg281Trp), has recently been described. However, there are no...
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