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

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

Publikováno v: Rice, G, Lovell, S, Pavaine, J, Wright, R, Zeef, L, Hambleton, S, Briggs, T & et al. 2019, ' Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 ', Science Immunology, vol. 4, no. 42, eaav7501 . https://doi.org/10.1126/sciimmunol.aav7501
Duncan, C J A, Thompson, B, Chen, R, Rice, G I, Gothe, F, Young, D F, Lovell, S C, Shuttleworth, V G, Brocklebank, V, Corner, B, Skelton, A J, Bondet, V, Coxhead, J, Duffy, D, Fourrage, C, Livingston, J H, Pavaine, J, Cheesman, E, Bitetti, S, Grainger, A, Acres, M, Innes, B A, Mikulasova, A, Sun, R, Hussain, R, Wright, R, Wynn, R, Zarhrate, M, Zeef, L A H, Wood, K M, Hughes, S M, Harris, C L, Engelhardt, K R, Crow, Y, Randall, R E, Kavanagh, D, Hambleton, S & Briggs, T A 2019, ' Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 ', Science Immunology . https://doi.org/10.1126/sciimmunol.aav7501
Science Immunology
Science Immunology, 2019, 4 (42), pp.eaav7501. ⟨10.1126/sciimmunol.aav7501⟩
Science Immunology, American Association for the Advancement of Science, 2019, 4 (42), pp.eaav7501. ⟨10.1126/sciimmunol.aav7501⟩

International audience; 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b75b99ad822c9b4f4b821ead0cffb9e2
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