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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Үндсэн зохиолчид:	Rensheng Wan, Johannes Fänder, Ia Zakaraia, Min Ae Lee-Kirsch, Christine Wolf, Nadja Lucas, Lisa Isabel Olfe, Corinna Hendrich, Danny Jonigk, Dirk Holzinger, Mathis Steindor, Gunnar Schmidt, Claudia Davenport, Christian Klemann, Nicolaus Schwerk, Matthias Griese, Brigitte Schlegelberger, Florian Stehling, Christine Happle, Bernd Auber, Doris Steinemann, Martin Wetzke, Sandra von Hardenberg
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Frontiers Media S.A. 2022-10-01
Цуврал:	Frontiers in Immunology
Нөхцлүүд:	STING1 STING-associated vasculopathy of infancy SAVI pulmonary inflammation interferonopathies stimulator of interferon genes
Онлайн хандалт:	https://www.frontiersin.org/articles/10.3389/fimmu.2022.1029423/full
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!