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[Girl with IPEX syndrome with low expression of Foxp3].
Horiuchi S, Ishiguro A, Nakagawa T, Shoji K, Nagai A, Arai K, Horikawa R, Kawai T, Watanabe N, Onodera M. Horiuchi S, et al. Among authors: arai k. Nihon Rinsho Meneki Gakkai Kaishi. 2012;35(6):526-32. doi: 10.2177/jsci.35.526. Nihon Rinsho Meneki Gakkai Kaishi. 2012. PMID: 23291488 Free article. Japanese.
Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.
Tsuchida N, Kirino Y, Soejima Y, Onodera M, Arai K, Tamura E, Ishikawa T, Kawai T, Uchiyama T, Nomura S, Kobayashi D, Taguri M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Nakajima H, Miyatake S, Matsumoto N. Tsuchida N, et al. Among authors: arai k. Arthritis Res Ther. 2019 Jun 4;21(1):137. doi: 10.1186/s13075-019-1928-5. Arthritis Res Ther. 2019. PMID: 31164164 Free PMC article.
X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis: A case report.
Takeuchi I, Kawai T, Nambu M, Migita O, Yoshimura S, Nishimura K, Yoshioka T, Ogura M, Kyodo R, Shimizu H, Ito S, Kato M, Onodera M, Hata K, Matsubara Y, Arai K. Takeuchi I, et al. Among authors: arai k. Clin Immunol. 2020 Aug;217:108495. doi: 10.1016/j.clim.2020.108495. Epub 2020 Jun 12. Clin Immunol. 2020. PMID: 32540394
Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.
Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, Kawakami A, Takei S, Tonomura K, Inoue M, Kobayashi H, Okafuji I, Sakurai Y, Kato N, Maruyama Y, Inoue Y, Otsubo Y, Makino T, Okada S, Kobayashi I, Yashiro M, Ito S, Fujii H, Kondo Y, Okamoto N, Ito S, Iwata N, Kaneko U, Doi M, Hosokawa J, Ohara O, Saito MK, Nishikomori R; PIDJ members in the JSIAD; PIDJ (Primary Immunodeficiency and Autoinflammatory Diseases Database Project) members in the JSIAD (Japanese Society for Immunodeficiency and Autoinflammatory Diseases). Matsuda T, et al. Ann Rheum Dis. 2020 Nov;79(11):1492-1499. doi: 10.1136/annrheumdis-2020-217320. Epub 2020 Jul 9. Ann Rheum Dis. 2020. PMID: 32647028
2,898 results