Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

Type I interferonopathies are monogenic disorders characterized by enhanced type I interferon (IFN-I) cytokine activity. Inherited USP18 and ISG15 deficiencies underlie type I interferonopathies by preventing the regulation of late responses to IFN-I. Specifically, USP18, being stabilized by ISG15,...

Descripción completa

Detalles Bibliográficos
Autores principales: Gruber, Conor, Martin-Fernandez, Marta, Ailal, Fatima, Qiu, Xueer, Taft, Justin, Altman, Jennie, Rosain, Jérémie, Buta, Sofija, Bousfiha, Aziz, Casanova, Jean-Laurent, Bustamante, Jacinta, Bogunovic, Dusan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2020
Materias:
Brief Definitive Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201920/
https://www.ncbi.nlm.nih.gov/pubmed/32092142
http://dx.doi.org/10.1084/jem.20192319

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201920/
https://www.ncbi.nlm.nih.gov/pubmed/32092142
http://dx.doi.org/10.1084/jem.20192319

Ejemplares similares