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Modern Rheumatology Volume 23, 2013 - Issue 4
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Case Report

A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?

Yuzaburo InoueDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, JapanCorrespondence[email protected]
,
Yasushi KawaguchiInstitute of Rheumatology, Tokyo Women’s Medical University, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan
,
Naoki ShimojoDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, Japan
,
Kenichi YamaguchiDivision of Allergy and Rheumatology, St. Luke’s International Hospital, 9-1 Akashi-cho, Chuou-ku, Tokyo 104-0044, Japan
,
Yoshinori MoritaDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, Japan
,
Taiji NakanoDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, Japan
,
Takayasu ArimaDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, Japan
,
Minako TomiitaDepartment of Allergy and Rheumatology, Chiba Children’s Hospital, 579-1 Henda-cho, Midori-ku, Chiba, Chiba 266-0007, Japan
&
Yoichi KohnoDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, Japan
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Pages 837-839 | Received 03 Feb 2012, Accepted 27 Jun 2012, Published online: 02 Jan 2014

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Nazanin Ebrahimiadib, Khawla Abu Samra, Aaron M. Domina, Ethan R. Stiles, Roger Ewer, Charlie P. Bocian & C. Stephen Foster. (2018) A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis. Ocular Immunology and Inflammation 26:1, pages 57-64.
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Articles from other publishers (13)

Qiaoqian Zeng, Haimei Liu, Guomin Li, Yifan Li, Wanzhen Guan, Tao Zhang, Yinv Gong, Xiaomei Zhang, Qianying Lv, Bingbing Wu, Hong Xu & Li Sun. (2023) A Chinese girl of Blau syndrome with renal arteritis and a literature review. Pediatric Rheumatology 21:1.
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Ilaria Maccora, Edoardo Marrani, Maria Vincenza Mastrolia, Sarah Abu-Rumeileh, Valerio Maniscalco, Eleonora Fusco, Federica Barbati, Ilaria Pagnini & Gabriele Simonini. (2021) Ocular involvement in monogenic autoinflammatory disease. Autoimmunity Reviews 20:11, pages 102944.
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Efstathia Danai C. Bikouli, Andriani Vazeou, Maria Xatzipsalti, Georgios Servos, Dimitrios Delis & Despoina N. Maritsi. (2021) Blau Syndrome Complicated by Atypical Type IIa Takayasu Arteritis. Journal of Child Science 11:01, pages e313-e316.
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J. Poline, O. Fogel, C. Pajot, C. Miceli‐Richard, M. Rybojad, C. Galeotti, E. Grouteau, E. Hachulla, P. Brissaud, A. Cantagrel, J. Mazereeuw Hautier, I. Melki, A. Petit, M. Piram, G. Sarrabay, C. Wouters, M.D. Vignon‐Pennamen, E. Bourrat & U. Meinzer. (2019) Early‐onset granulomatous arthritis, uveitis and skin rash: characterization of skin involvement in Blau syndrome. Journal of the European Academy of Dermatology and Venereology 34:2, pages 340-348.
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Jing Chen, Yi Luo, Mengzhu Zhao, Di Wu, Yunjiao Yang, Wen Zhang & Min Shen. (2019) Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome. Arthritis Research & Therapy 21:1.
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Somayeh Shariatmaghani, Roshanak Salari, Maryam Sahebari, Payman Shalchian Tabrizi & Masoumeh Salari. (2019) Musculoskeletal Manifestations of Sarcoidosis: A Review Article. Current Rheumatology Reviews 15:2, pages 83-89.
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Li Lu, Min Shen, Dongbin Jiang, Yanmin Li, Xiaolong Zheng, Yao Li, Zhixun Li, Leilei Zhang, Jungen Tang, Yanke Guo, Shengyun Liu, Zhaohui Zheng, Guanmin Gao & Quancheng Kan. (2018) Blau syndrome with good Reponses to Tocilizumab: A case report and focused literature review. Seminars in Arthritis and Rheumatism 47:5, pages 727-731.
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Yusuke Takeuchi, Tomonari Shigemura, Norimoto Kobayashi, Naoe Kaneko, Tomoyuki Iwasaki, Kisei Minami, Keiko Kobayashi, Junya Masumoto & Kazunaga Agematsu. (2017) Early diagnosis of early-onset sarcoidosis: a case report with functional analysis and review of the literature. Clinical Rheumatology 36:5, pages 1189-1196.
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Clive Edelsten. 2017. Taylor and Hoyt's Pediatric Ophthalmology and Strabismus. Taylor and Hoyt's Pediatric Ophthalmology and Strabismus 385 402.e2 .
Arthur ZimmermannArthur Zimmermann. 2017. Tumors and Tumor-Like Lesions of the Hepatobiliary Tract. Tumors and Tumor-Like Lesions of the Hepatobiliary Tract 2475 2499 .
Arthur ZimmermannArthur Zimmermann. 2016. Tumors and Tumor-Like Lesions of the Hepatobiliary Tract. Tumors and Tumor-Like Lesions of the Hepatobiliary Tract 1 25 .
Francesco Caso, Luisa Costa, Donato Rigante, Antonio Vitale, Rolando Cimaz, Orso Maria Lucherini, Paolo Sfriso, Elena Verrecchia, Sofia Tognon, Vittoria Bascherini, Mauro Galeazzi, Leonardo Punzi & Luca Cantarini. (2014) Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. Autoimmunity Reviews 13:12, pages 1220-1229.
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Kei Ikeda, Naotomo Kambe, Syuji Takei, Taiji Nakano, Yuzaburo Inoue, Minako Tomiita, Natsuko Oyake, Takashi Satoh, Tsuyoshi Yamatou, Tomohiro Kubota, Ikuo Okafuji, Nobuo Kanazawa, Ryuta Nishikomori, Naoki Shimojo, Hiroyuki Matsue & Hiroshi Nakajima. (2014) Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. Arthritis Research & Therapy 16:2, pages R89.
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