Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 274 patients from 167 kindreds. Julie Toubiana, MD1,2,3,4, Satoshi Okada, PhD5,6, Julia Hiller, MD7,8,*, Matias Oleastro, MD9,*, Macarena Lagos Gomez, MD10,*, Juan Carlos Aldave Becerra, MD11,*, Marie Ouaché-Chardin, MD12,*, Fanny Fouyssac, MD13,*, Katta Mohan Girisha, MD14,¥, Amos Etzioni, MD15,¥, Joris Van Montfrans, MD16,¥, Yildiz Camcioglu, MD17,¥, Leigh Ann Kerns, MD18,¥,, Bernd Belohradsky, MD19, ¥, Stéphane Blanche, MD2,4,¥, Aziz Bousfiha, MD20,¥, Carlos Rodriguez-Gallego, MD21,¥, Isabelle Meyts22,¥, Kai Kisand, MD23,¥, Janine Reichenbach, MD24,¥, Ellen D Renner, MD19,#, Sergio Rosenzweig, MD25,#, Bodo Grimbacher, MD26,# , Frank L van de Veerdonk, MD27,#, Claudia Traidl-Hoffmann, M7,8,#, Capucine Picard, MD2,3,4,28,#, Laszlo Marodi, MD29,#, Tomohiro Morio, MD30,#, Masao Kobayashi, MD6,#, Desa Lilic, MD31,#, Joshua D Milner, MD32,#, Steven Holland, MD25,#, Jean-Laurent Casanova, MD2,3,5,33,@ and Anne Puel, PhD2,3,5,34,@ , on behalf of the International STAT1-GOF study group† European Journal of Immunology
Reduced TCR-dependent activation through citrullination of a T-cell epitope enhances Th17 development by disruption of the STAT3/5 balance. Christopher Tibbitt, Jane Falconer, Jeroen Stoop, Willem van Eden, John H.Robinson and Catharien M.U. Hilkens European Journal of Immunology
Drug breakthrough offers hope to arthritis sufferers: qualitative analysis of medical research in UK newspapers. Hanson, H., O'Brien, N., Whybrow, P., Isaacs, J.D. and Rapley, T. Health Expectations. (2016), doi: 10.1111/hex.12460
Trends in paediatric rheumatology referral times and disease activity indices over a ten-year period among children and young people with Juvenile Idiopathic Arthritis: results from the childhood arthritis prospective Study. Flora McErlane, Helen E. Foster, Roberto Carrasco, Eileen M. Baildam, S.E. Alice Chieng, Joyce E. Davidson, Yiannis Ioannou, Lucy R. Wedderburn, Wendy Thomson and Kimme L. Hyrich. Rheumatology (2106) 55:1223-1234.
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Wednesday 20 July 2016
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