Clinical heterogeneity among a three-generation Japanese family with D18N TREX1 mutation for Aicardi-Goutières syndrome / familial chilblain lupus

por Abe, J, Nishikomori, R, Izawa, K, Awaya, T, Kawai, T, Yasumi, T, Heike, T, Hiragi, N, Hiragi, T
Publicado 2011

P03-023 – Autoinflammatory diseases database in Japan

por Kawai, T, Nishikomori, R, Awaya, M, Nakagawa, K, Izawa, K, Yasumi, T, Ohara, O, Heike, T
Publicado 2013

Remarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene.

por Nishikomori, R, Kawai, T, Toshiyuki, K, Oda, H, Yasumi, T, Izawa, K, Ohara, O, Heike, T
Publicado 2015

PW02-029 - Single cell fluorescent immunoassay of CINCA/NOMID

por Nakagawa, K, Shimura, N, Shirasaki, Y, Yamagishi, M, Izawa, K, Nishikomori, R, Kawai, T, Yasumi, T, Heike, T, Ohara, O
Publicado 2013

Clinical and genetic analyses in a patient with PAPA syndrome complicated with inflammatory bowel disease

por Ida, H, Kunitake, Y, Yoshida, N, Wakasugi, D, Kaieda, S, Mitsuyama, K, Iwamoto, K, Fujita, K, Nishikomori, R
Publicado 2015

Diagnosis of NLRP3 somatic mosaicism in CINCA/NOMID patients using next-generation sequencing

por Izawa, K, Nishikomori, R, Tanikaze, N, Saito, MK, Goldbach-Mansky, R, Aksentijevich, I, Yasumi, T, Kawai, T, Nakahata, T, Heike, T, Ohara, O
Publicado 2011

Understanding the pathophysiology of NOMID arthropathy for drug discovery by iPSCs technology

por Nakagawa, K, Okuno, Y, Nishikomori, R, Yokoyama, K, Tanaka, T, Kawai, T, Yasumi, T, Umeda, K, Nakayama, N, Toguchida, J, Hagiwara, M, Heike, T
Publicado 2015

Dosing patterns of canakinumab in patients with Cryopyrin-Associated Periodic Syndromes (CAPS): A comparative analysis of a study in Western versus Japanese patients

por Bader-Meunier, B, Hachulla, P, Kuemmerle-Deschner, J, Gattorno, M, Patel, N, Preiss, R, Lheritier, K, Imagawa, T, Nishikomori, R, Takada, H, Heike, T, Hara, T, Yokota, S
Publicado 2011

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

por Gonzalez-Roca, E, Mensa-Vilaro, A, Plaza, S, Anton, MC, Rius, J, Ruiz-Ortiz, E, Campistol, JM, Souto, A, Cañellas, J, Nakagawa, K, Nishikomori, R, Yagüe, J, Arostegui, JI
Publicado 2015

Guidelines for the genetic diagnosis of hereditary recurrent fevers

por Shinar, Y, Obici, L, Aksentijevich, I, Bennetts, B, Austrup, F, Ceccherini, I, Costa, J M, De Leener, A, Gattorno, M, Kania, U, Kone-Paut, I, Lezer, S, Livneh, A, Moix, I, Nishikomori, R, Ozen, S, Phylactou, L, Risom, L, Rowczenio, D, Sarkisian, T, van Gijn, M E, Witsch-Baumgartner, M, Morris, M, Hoffman, H M, Touitou, I
Publicado 2012