NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination

Children

Nobuo Kanazawa¹  Chikako Nishigori²  Naotomo Kambe³  Yoshiki Miyachi³  Akiko Arakawa³  Ryuta Nishikomori⁴  Masamichi Ueda⁵  Akiyo Tanabe⁶ 

[1] Department of Dermatology, Hyogo College of Medicine, Mukogawa-cho 1-1, Nishinomiya, Hyogo 663-8501, Japan;Department of Dermatology, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan;Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan;Department of Pediatrics, Kurume University, Kurume 830-0011, Japan;Institute for Virus Research, Kyoto University Graduate School of Medicine, Kyoto 606-8397, Japan;Ophthalmology and Visual Science, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan;

关键词: NOD2;    Blau syndrome;    early-onset sarcoidosis;    lichen scrofulosorum;    BCG vaccination;   

DOI  :  10.3390/children8020117

来源: DOAJ

【 摘 要 】

We describe a patient who developed multiple granulomatous skin lesions after Bacille de Calmette et Guérin (BCG) vaccination without significant effect by topical corticosteroid, followed by painless cystic tumors on the bilateral knees and hands and inflammatory changes on ophthalmologic examination. A functional mutation in NOD2 was detected by a genetic analysis, and he was diagnosed as sporadic Blau syndrome. Since NOD2 acts as a sensor for the BCG component, it is possible that BCG vaccination may trigger granuloma formation in Blau syndrome patients with such genetic background.

【 授权许可】

Unknown