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Immunology (including allergy)

  • Cardiac valve involvement in ADAR-related type I interferonopathy
    Yanick Crow, Nandaki Keshavan, Jacques Patrick Barbet, Geanina Bercu, Vincent Bondet, Charlotte Boussard, Nathalie Dedieu, Darragh Duffy, Marie Hully, Alessandro Giardini, Cyril Gitiaux, Gillian Inara Rice, Luis Seabra, Brigitte Bader-Meunier, Shamima Rahman
    Journal of Medical Genetics Jul 2020, 57 (7) 475-478; DOI: 10.1136/jmedgenet-2019-106457
  • Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: results from the prospective TEDDY study
    Andreas Beyerlein, Ezio Bonifacio, Kendra Vehik, Markus Hippich, Christiane Winkler, Brigitte I Frohnert, Andrea K Steck, William A Hagopian, Jeffrey P Krischer, Åke Lernmark, Marian J Rewers, Jin-Xiong She, Jorma Toppari, Beena Akolkar, Stephen S Rich, Anette-G Ziegler
    Journal of Medical Genetics Sep 2019, 56 (9) 602-605; DOI: 10.1136/jmedgenet-2018-105532
  • Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation
    Mario D Cordero, Elísabet Alcocer-Gómez, Fabiola Marín-Aguilar, Tatyana Rybkina, David Cotán, Antonio Pérez-Pulido, José Miguel Alvarez-Suarez, Maurizio Battino, José Antonio Sánchez-Alcazar, Angel M Carrión, Ognjen Culic, José M Navarro-Pando, Pedro Bullón
    Journal of Medical Genetics Feb 2016, 53 (2) 113-122; DOI: 10.1136/jmedgenet-2015-103392
  • Upregulation of RCAN1 causes Down syndrome-like immune dysfunction
    Katherine R Martin, Daniel Layton, Natalie Seach, Alicia Corlett, Maria Jose Barallobre, Maria L Arbonés, Richard L Boyd, Bernadette Scott, Melanie A Pritchard
    Journal of Medical Genetics Jul 2013, 50 (7) 444-454; DOI: 10.1136/jmedgenet-2013-101522
  • A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
    John H Livingston, Jean-Pierre Lin, Russell C Dale, Deepak Gill, Paul Brogan, Arnold Munnich, Manju A Kurian, Victoria Gonzalez-Martinez, Christian G E L De Goede, Alastair Falconer, Gabriella Forte, Emma M Jenkinson, Paul R Kasher, Marcin Szynkiewicz, Gillian I Rice, Yanick J Crow
    Journal of Medical Genetics Feb 2014, 51 (2) 76-82; DOI: 10.1136/jmedgenet-2013-102038
  • Genome-wide significant association with seven novel multiple sclerosis risk loci
    Christina M Lill, Felix Luessi, Antonio Alcina, Ekaterina A Sokolova, Nerea Ugidos, Belén de la Hera, Léna Guillot-Noël, Sunny Malhotra, Eva Reinthaler, Brit-Maren M Schjeide, Julia Y Mescheriakova, Andriy Mashychev, Inken Wohlers, Denis A Akkad, Orhan Aktas, Iraide Alloza, Alfredo Antigüedad, Rafa Arroyo, Ianire Astobiza, Paul Blaschke, Alexei N Boyko, Mathias Buttmann, Andrew Chan, Thomas Dörner, Joerg T Epplen, Olga O Favorova, Maria Fedetz, Oscar Fernández, Angel García-Martínez, Lisa-Ann Gerdes, Christiane Graetz, Hans-Peter Hartung, Sabine Hoffjan, Guillermo Izquierdo, Denis S Korobko, Antje Kroner, Christian Kubisch, Tania Kümpfel, Laura Leyva, Peter Lohse, Nadezhda A Malkova, Xavier Montalban, Ekaterina V Popova, Peter Rieckmann, Alexei S Rozhdestvenskii, Christiane Schmied, Inna V Smagina, Ekaterina Y Tsareva, Alexander Winkelmann, Uwe K Zettl, Harald Binder, Isabelle Cournu-Rebeix, Rogier Hintzen, Alexander Zimprich, Manuel Comabella, Bertrand Fontaine, Elena Urcelay, Koen Vandenbroeck, Maxim Filipenko, Fuencisla Matesanz, Frauke Zipp, Lars Bertram
    Journal of Medical Genetics Dec 2015, 52 (12) 848-855; DOI: 10.1136/jmedgenet-2015-103442
  • Cowden's syndrome with immunodeficiency
    Michael J Browning, Anita Chandra, Valentina Carbonaro, Klaus Okkenhaug, Julian Barwell
    Journal of Medical Genetics Dec 2015, 52 (12) 856-859; DOI: 10.1136/jmedgenet-2015-103266