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,...

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Bibliographic Details
Published in:J Exp Med
Main Authors: 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
Format: Artigo
Language:Inglês
Published: Rockefeller University Press 2020
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Brief Definitive Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7201920/
https://ncbi.nlm.nih.gov/pubmed/32092142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20192319
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