Autoinflammatory disorders

Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the mutationNOD2

Tomoko Matsuda, Naotomo Kambe, Yoko Ueki, Nobuo Kanazawa, Kazushi Izawa, Yoshitaka Honda, Atsushi Kawakami, Syuji Takei, Kyoko Tonomura, Masami Inoue, Hiroko Kobayashi, Ikuo Okafuji, Yoshihiko Sakurai, Naoki Kato, Yuta Maruyama, Yuzaburo Inoue, Yoshikazu Otsubo, Teruhiko Makino, Satoshi Okada, Ichiro Kobayashi, Masato Yashiro, Shusaku Ito, Hiroshi Fujii, Yasuhiro Kondo, Nami Okamoto, Shuichi Ito, Naomi Iwata, Utako Kaneko, Mototsugu Doi, Junichi Hosokawa, Osamu Ohara, Megumu K Saito, Ryuta Nishikomori, PIDJ (Primary Immunodeficiency and Autoinflammatory Diseases Database Project) members in the JSIAD (Japanese Society for Immunodeficiency and Autoinflammatory Diseases), Shigeaki Nonoyama, Kohsuke Imai, Katsuhiro Arai, Kazushi Izawa, Takashi Ishige, MasatakaI shimura, Hiroaki Ida, Norimitsu Inoue, Hidenori Ohnishi, Satoshi Okada, Nobuo Kanazawa, Hirokazu Kanegane, Toshinao Kawai, Naotomo Kambe, Tomohiro Koga, Yoji Sasahara, Hidetoshi Takada, Ichiro Takeuchi, Ryuta Nishikomori, Takahiko Horiuchi, Kiyoshi Migita, Tomoyuki Mizukami, Takako Miyamae, Hideki Muramatsu, Kunihiko Moriya, Takahiro Yasumi, Takashi Yamazaki, Masafumi Yamada, Taizo Wada

10.1136/annrheumdis-2020-217320

July 9, 2020

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever

Hanne Van Gorp, Linyan Huang, Pedro Saavedra, Marnik Vuylsteke, Tomoko Asaoka, Giusi Prencipe, Antonella Insalaco, Benson Ogunjimi, Jerold Jeyaratnam, Ilaria Cataldo, Peggy Jacques, Karim Vermaelen, Melissa Dullaers, Rik Joos, Vito Sabato, Alessandro Stella, Joost Frenkel, Fabrizio De Benedetti, Joke Dehoorne, Filomeen Haerynck, Giuseppe Calamita, Piero Portincasa, Mohamed Lamkanfi

10.1136/annrheumdis-2019-216701

April 20, 2020

Specific changes in faecal microbiota are associated with familial Mediterranean fever

Samuel Deshayes, Soraya Fellahi, Jean-Philippe Bastard, Jean-Marie Launay, Jacques Callebert, Thibault Fraisse, David Buob, Jean-Jacques Boffa, Irina Giurgea, Charlotte Dupont, Sarah Jegou, Marjolène Straube, Alexandre Karras, Achille Aouba, Gilles Grateau, Harry Sokol, Sophie Georgin-Lavialle, AA amyloidosis Study Group, Serge Amselem, Camille Louvrier, Léa Savey, Joris Galland, Antoine Hankard, Alexandre Cez, Pierre-Antoine Michel, Bertrand Knebelmann, Alexandre Hertig, Corinne Isnard Bagnis, Xavier Belenfant, Nicolas Martin Silva, David Saadoun, Tristan Legris

10.1136/annrheumdis-2019-215258

August 3, 2019

Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

Nienke M Ter Haar, Charlotte Eijkelboom, Luca Cantarini, Riccardo Papa, Paul A Brogan, Isabelle Kone-Paut, Consuelo Modesto, Michael Hofer, Nicolae Iagaru, Sárka Fingerhutová, Antonella Insalaco, Francesco Licciardi, Yosef Uziel, Marija Jelusic, Irina Nikishina, Susan Nielsen, Efimia Papadopoulou-Alataki, Alma Nunzia Olivieri, Rolando Cimaz, Gordana Susic, Valda Stanevica, Marielle van Gijn, Antonio Vitale, Nicolino Ruperto, Joost Frenkel, Marco Gattorno

10.1136/annrheumdis-2018-214472

July 5, 2019

Classification criteria for autoinflammatory recurrent fevers

Marco Gattorno, Michael Hofer, Silvia Federici, Federica Vanoni, Francesca Bovis, Ivona Aksentijevich, Jordi Anton, Juan Ignacio Arostegui, Karyl Barron, Eldad Ben-Cherit, Paul A Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenkel, Raphaela Goldbach-Mansky, Ahmet Gul, Veronique Hentgen, Hal Hoffman, Tilmann Kallinich, Isabelle Kone-Paut, Jasmin Kuemmerle-Deschner, Helen J Lachmann, Ronald M Laxer, Avi Livneh, Laura Obici, Seza Ozen, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Nataša Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Dirk Foell, Claudia Garassino, Dan Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto

10.1136/annrheumdis-2019-215048

April 24, 2019