Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

Excessive type I interferon (IFNα/β) activity is implicated in a spectrum of human disease, yet its direct role remains to be conclusively proven. We investigated two siblings with severe early-onset autoinflammatory disease and an elevated IFN signature. Whole exome sequencing revealed a shared hom...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Immunol
Prif Awduron: Duncan, Christopher J.A., Thompson, Benjamin, Chen, Rui, Rice, Gillian I., Gothe, Florian, Young, Dan F., Lovell, Simon C., Shuttleworth, Victoria G., Brocklebank, Vicky, Corner, Bronte, Skelton, Andrew J., Bondet, Vincent, Coxhead, Jonathan, Duffy, Darragh, Fourrage, Cecile, Livingston, John H., Pavaine, Julija, Cheesman, Edmund, Bitetti, Stephania, Grainger, Angela, Acres, Meghan, Innes, Barbara A., Mikulasova, Aneta, Sun, Ruyue, Hussain, Rafiqul, Wright, Ronnie, Wynn, Robert, Zarhrate, Mohammed, Zeef, Leo A.H., Wood, Katrina, Hughes, Stephen M., Harris, Claire L., Engelhardt, Karin R., Crow, Yanick J., Randall, Richard E., Kavanagh, David, Hambleton, Sophie, Briggs, Tracy A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2019
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7115903/
https://ncbi.nlm.nih.gov/pubmed/31836668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/sciimmunol.aav7501
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