Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation. Issue 11 (9th July 2020)

• Record Type: Journal Article
• Authors: Matsuda, Tomoko; Kambe, Naotomo; Ueki, Yoko; Kanazawa, Nobuo; Izawa, Kazushi; Honda, Yoshitaka; Kawakami, Atsushi; Takei, Syuji; Tonomura, Kyoko; Inoue, Masami; Kobayashi, Hiroko; Okafuji, Ikuo; Sakurai, Yoshihiko; Kato, Naoki; Maruyama, Yuta; Inoue, Yuzaburo; Otsubo, Yoshikazu; Makino, Teruhiko; Okada, Satoshi; Kobayashi, Ichiro; Yashiro, Masato; Ito, Shusaku; Fujii, Hiroshi; Kondo, Yasuhiro; Okamoto, Nami; Ito, Shuichi; Iwata, Naomi; Kaneko, Utako; Doi, Mototsugu; Hosokawa, Junichi; Ohara, Osamu; Saito, Megumu K; Nishikomori, Ryuta;
• Other Names: author non-byline.; Nonoyama Shigeaki author non-byline.; Imai Kohsuke author non-byline.; Arai Katsuhiro author non-byline.; Izawa Kazushi author non-byline.; Ishige Takashi author non-byline.; shimura MasatakaI author non-byline.; Ida Hiroaki author non-byline.; Inoue Norimitsu author non-byline.; Ohnishi Hidenori author non-byline.; Okada Satoshi author non-byline.; Kanazawa Nobuo author non-byline.; Kanegane Hirokazu author non-byline.; Kawai Toshinao author non-byline.; Kambe Naotomo author non-byline.; Koga Tomohiro author non-byline.; Sasahara Yoji author non-byline.; Takada Hidetoshi author non-byline.; Takeuchi Ichiro author non-byline.; Nishikomori Ryuta author non-byline.; Horiuchi Takahiko author non-byline.; Migita Kiyoshi author non-byline.; Mizukami Tomoyuki author non-byline.; Miyamae Takako author non-byline.; Muramatsu Hideki author non-byline.; Moriya Kunihiko author non-byline.; Yasumi Takahiro author non-byline.; Yamazaki Takashi author non-byline.; Yamada Masafumi author non-byline.; Wada Taizo author non-byline.
• Is Part Of: Annals of the rheumatic diseases. Volume 79:Issue 11(2020)
• Page Start: 1492
• Page End: 1499
• Publication Date: 2020-07-09
• Subjects: sarcoidosis -- inflammation -- early rheumatoid arthritis; Rheumatism -- Periodicals; 616.723005
• DOI: 10.1136/annrheumdis-2020-217320
• Languages: English
• ISSNs: 0003-4967

Abstract

Abstract : Objectives: To collect clinical information and NOD2 mutation data on patients with Blau syndrome and to evaluate their prognosis. Methods: Fifty patients with NOD2 mutations were analysed. The activity of each NOD2 mutant was evaluated in HEK293 cells by reporter assay. Clinical information was collected from medical records through the attending physicians. Results: The study population comprised 26 males and 24 females aged 0–61 years. Thirty-two cases were sporadic, and 18 were familial from 9 unrelated families. Fifteen different mutations in NOD2 were identified, including 2 novel mutations (p.W490S and D512V); all showed spontaneous nuclear factor kappa B activation, and the most common mutation was p.R334W. Twenty-six patients had fever at relatively early timepoints in the disease course. Forty-three of 47 patients had a skin rash. The onset of disease in 9 patients was recognised after BCG vaccination. Forty-five of 49 patients had joint lesions. Thirty-eight of 50 patients had ocular symptoms, 7 of which resulted in blindness. After the diagnosis of Blau syndrome, 26 patients were treated with biologics; all were antitumour necrosis factor agents. Only 3 patients were treated with biologics alone; the others received a biologic in combination with methotrexate and/or prednisolone. None of the patients who became blind received biologic treatment. Conclusions: In patients with Blau syndrome, severe joint contractures and blindness may occur if diagnosis and appropriate treatment are delayed. Early treatment with a biologic agent may improve the prognosis.