Portal de Periódicos da CAPES

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

2019; American Association for the Advancement of Science; Volume: 4; Issue: 42 Linguagem: Inglês

10.1126/sciimmunol.aav7501

2470-9468

C.J. Duncan, Benjamin Thompson, Rui Chen, Gillian Rice, Florian Gothe, D. F. Young, Simon C. Lovell, Victoria G. Shuttleworth, Vicky Brocklebank, Bronte M. Corner, Andrew Skelton, Vincent Bondet, Jonathan Coxhead, Darragh Duffy, Cécile Fourrage, John H. Livingston, Julija Pavaine, Edmund Cheesman, Stephania Bitetti, Angela Grainger, Meghan Acres, Barbara A. Innes, Aneta Mikulášová, Ruyue Sun, Rafiqul Hussain, Ronnie Wright, Robert Wynn, Mohammed Zarhrate, Leo Zeef, Katrina M. Wood, Stephen Hughes, Claire L. Harris, Karin R. Engelhardt, Yanick J. Crow, Richard E. Randall, David Kavanagh, Sophie Hambleton, Tracy A. Briggs,

interferon and immune responses

STAT2 R148W impairs an essential regulatory function of STAT2, revealing the damage wreaked by excessive IFNα/β activity.