Art

J-GLOBAL ID：201602273213300937   Reference number：16A1231143

A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan

TNF受容体関連周期性症候群を呈した2歳の日本人女性:日本で最も若い発端者の1例

Author (6)： YASUMURA Junko (Hiroshima Univ. Graduate School of Biomedical & Health Sci., Hiroshima, JPN) ,  WAGO Masakuni (Hiroshima City Asa Hospital, Hiroshima, JPN) ,  OKADA Satoshi (Hiroshima Univ. Graduate School of Biomedical & Health Sci., Hiroshima, JPN) ,  NISHIKOMORI Ryuta (Kyoto Univ., Kyoto, JPN) ,  TAKEI Syuji (Kagoshima Univ., Kagoshima, JPN) ,  KOBAYASHI Masao (Hiroshima Univ. Graduate School of Biomedical & Health Sci., Hiroshima, JPN)
Material： Modern Rheumatology  (Mod Rheumatol)
Volume： 26  Issue： 5  Page： 798-801  Publication year： Sep. 2016 
JST Material Number： L5142A  ISSN： 1439-7595  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： genetic variation ,...

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JST classification (1)： Diagnostics of congenital diseases, deformities.  (GD03020G)

Reference (18)：

• McDermott MF, Aksentijevich I, Galon J, McDermott EM, Oqunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133-44.
• Lainka E, Neudorf U, Lohse P, Timmann C, Stojanov S, Huss K, et al. Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics. Rheumatology (Oxford). 2009;48(8): 987-91.
• Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ. Familial Hibernian fever. Q J Med. 1982;51(204):469-80.
• Washio M, Nakano T, Kawaguchi Y, Takagi K, Kiyohara C, Tsukamoto H, et al. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature. Mod Rheumatol. 2013;23(2):210-7.
• Takei S. Systemic JIA as an Autoinflammatory disease. Inflamm Regen. 2011;31(1):52-65.

Terms in the title (4)： TNF受容体関連周期性症候群 ,  日本人 ,  女性 ,  日本