Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2

PURPOSE: STAT2 is both an effector and negative regulator of type I interferon (IFN-I) signalling. We describe the characterization of a novel homozygous missense STAT2 substitution in a patient with a type I interferonopathy. METHODS: Whole-genome sequencing (WGS) was used to identify the genetic b...

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Detalles Bibliográficos
Autores principales: Zhu, Gaofeng, Badonyi, Mihaly, Franklin, Lina, Seabra, Luis, Rice, Gillian I., Anne-Boland-Auge, Deleuze, Jean-François, El-Chehadeh, Salima, Anheim, Mathieu, de Saint-Martin, Anne, Pellegrini, Sandra, Marsh, Joseph A., Crow, Yanick J., El-Daher, Marie-Therese
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110676/
https://www.ncbi.nlm.nih.gov/pubmed/36753016
http://dx.doi.org/10.1007/s10875-023-01445-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110676/
https://www.ncbi.nlm.nih.gov/pubmed/36753016
http://dx.doi.org/10.1007/s10875-023-01445-3

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