Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

Autor: Christopher J.A. Duncan, Morten K. Skouboe, Sophie Howarth, Anne K. Hollensen, Rui Chen, Malene L. Børresen, Benjamin J. Thompson, Jarmila Stremenova Spegarova, Catherine F. Hatton, Frederik F. Stæger, Mette K. Andersen, John Whittaker, Søren R. Paludan, Sofie E. Jørgensen, Martin K. Thomsen, Jacob G. Mikkelsen, Carsten Heilmann, Daniela Buhas, Nina F. Øbro, Jakob T. Bay, Hanne V. Marquart, M. Teresa de la Morena, Joseph A. Klejka, Matthew Hirschfeld, Line Borgwardt, Isabel Forss, Tania Masmas, Anja Poulsen, Francisco Noya, Guy Rouleau, Torben Hansen, Sirui Zhou, Anders Albrechtsen, Reza Alizadehfar, Eric J. Allenspach, Sophie Hambleton, Trine H. Mogensen

Publikováno v: Duncan, C J A, Skouboe, M K, Howarth, S, Hollensen, A K, Chen, R, Børresen, M L, Thompson, B J, Spegarova, J S, Hatton, C F, Stæger, F F, Andersen, M K, Whittaker, J, Paludan, S R, Jørgensen, S E, Thomsen, M K, Mikkelsen, J G, Heilmann, C, Buhas, D, Øbro, N F, Bay, J T, Marquart, H V, Morena, M T D L, Klejka, J A, Hirschfeld, M, Borgwardt, L, Forss, I, Masmas, T, Poulsen, A, Noya, F, Rouleau, G, Hansen, T, Zhou, S, Albrechtsen, A, Alizadehfar, R, Allenspach, E J, Hambleton, S & Mogensen, T H 2022, ' Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic ', Journal of Experimental Medicine, vol. 219, no. 6, e20212427 . https://doi.org/10.1084/jem.20212427
Duncan, C J A, Skouboe, M K, Howarth, S, Hollensen, A K, Chen, R, Børresen, M L, Thompson, B J, Stremenova Spegarova, J, Hatton, C F, Stæger, F F, Andersen, M K, Whittaker, J, Paludan, S R, Jørgensen, S E, Thomsen, M K, Mikkelsen, J G, Heilmann, C, Buhas, D, Øbro, N F, Bay, J T, Marquart, H V, de la Morena, M T, Klejka, J A, Hirschfeld, M, Borgwardt, L, Forss, I, Masmas, T, Poulsen, A, Noya, F, Rouleau, G, Hansen, T, Zhou, S, Albrechtsen, A, Alizadehfar, R, Allenspach, E J, Hambleton, S & Mogensen, T H 2022, ' Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic ', The Journal of Experimental Medicine, vol. 219, no. 6, e20212427 . https://doi.org/10.1084/jem.20212427

Type I interferons (IFN-I) play a critical role in human antiviral immunity, as demonstrated by the exceptionally rare deleterious variants of IFNAR1 or IFNAR2. We investigated five children from Greenland, Canada, and Alaska presenting with viral di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0e93df69405efb9dfa8932bb4d0da2
https://curis.ku.dk/portal/da/publications/lifethreatening-viral-disease-in-a-novel-form-of-autosomal-recessive-ifnar2-deficiency-in-the-arctic(38e5d906-7ed0-4521-981d-02d7dbdab48d).html

Type I IFN exacerbates disease in tuberculosis-susceptible mice by inducing neutrophil-mediated lung inflammation and NETosis

Autor: Iker Valle Aramburu, Margarida Saraiva, Anne O'Garra, Marianna Ioannou, Lúcia Moreira-Teixeira, Evangelos Stavropoulos, Qian Wang, Alejandro Suárez-Bonnet, Philippa J. Stimpson, Venizelos Papayannopoulos, Cristina Vilaplana, Kaori L. Fonseca, Probir Chakravarty, Eleanor Herbert, Paula Rodríguez-Martínez, Simon L. Priestnall, Sabelo Hadebe, Sergo Vashakidze, Jeremy Sousa

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Nature Communications
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

Tuberculosis (TB) is a leading cause of mortality due to infectious disease, but the factors determining disease progression are unclear. Transcriptional signatures associated with type I IFN signalling and neutrophilic inflammation were shown to cor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::407353cfe6961f4fce97947d1ddae0cc
https://hdl.handle.net/10216/143506

Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling

Autor: Charlotte Möller, Gregory J. Buchan, Francisco J. Schopfer, Rachel E. Rigby, Hiroyuki Arai, Jonathan J. Miner, Wei Qian, Anne L. Thielke, Camilla Gunderstofte, Martin R. Jakobsen, Jan Rehwinkel, Jessica Roos, Mona Motwani, Sonia R. Salvatore, Katherine A. Fitzgerald, Marie B. Iversen, Rongtuan Lin, Raphaela Goldbach-Mansky, Christian K. Holm, Michael Rühl, Kojiro Mukai, Thorsten J. Maier, Tomohiko Taguchi, Cathrine A. Miner, Andreas S. Jakobsen, Anne-Louise S. Hansen, Emari Ogawa, David Olagnier, Sidsel D. Andersen

Publikováno v: Hansen, A L, Buchan, G J, Rühl, M, Mukai, K, Salvatore, S R, Ogawa, E, Andersen, S D, Iversen, M B, Thielke, A L, Gunderstofte, C, Motwani, M, Møller, C T, Jakobsen, A S, Fitzgerald, K A, Roos, J, Lin, R, Maier, T J, Goldbach-Mansky, R, Miner, C A, Qian, W, Miner, J J, Rigby, R E, Rehwinkel, J, Jakobsen, M R, Arai, H, Taguchi, T, Schopfer, F J, Olagnier, D & Holm, C K 2018, ' Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling ', Proceedings of the National Academy of Sciences of the United States of America, vol. 115, no. 33, pp. E7768-E7775 . https://doi.org/10.1073/pnas.1806239115
Proceedings of the National Academy of Sciences of the United States of America

Significance Several chronic inflammatory conditions have recently been shown to depend on abnormally high activity of the signaling protein stimulator of IFN genes (STING). These conditions include examples from systemic lupus erythematosus, Aicardi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc7de5e98d88f9543f4ef4e8fec446d2
https://doi.org/10.1073/pnas.1806239115

Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome

Autor: Adam Shlien, Denis Larsimont, Martine Piccart, Marc Abramowicz, Naima Kheddoumi, David Gacquer, Debora Fumagalli, Karen Willard-Gallo, David N Brown, Christine Desmedt, Tomasz Konopka, Vincent Detours, Anne Lefort, Kornelia Polyak, Frédérick Libert, Françoise Rothé, Christos Sotiriou, Peter J. Campbell, Roberto Salgado

Publikováno v: Cell Reports, Vol 13, Iss 2, Pp 277-289 (2015)
Cell Reports
Cell reports

Summary Little is known about how RNA editing operates in cancer. Transcriptome analysis of 68 normal and cancerous breast tissues revealed that the editing enzyme ADAR acts uniformly, on the same loci, across tissues. In controlled ADAR expression e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc9d9fcd39d5adbd112f2d83a10ca57
http://www.sciencedirect.com/science/article/pii/S2211124715010438

Type I interferonopathies in pediatric rheumatology

Autor: Volpi, S., Picco, P., Caorsi, R., Candotti, F., Gattorno, M.

Publikováno v: Pediatric rheumatology online journal, vol. 14, no. 1, pp. 35

Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1900::6259d649ae88c66ae8976fb1d7306c11
https://serval.unil.ch/notice/serval:BIB_F53B15A22E70