Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.

doi:10.1136/annrheumdis-2020-217320

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Article

Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.

Annals of the rheumatic diseases - 1 Nov 2020

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

Abstract excerpt

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...

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PMID: 32647028
DOI: 10.1136/annrheumdis-2020-217320

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