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

Arakawa, Akiko; Kambe, Naotomo; Nishikomori, Ryuta; Tanabe, Akiyo; Ueda, Masamichi; Nishigori, Chikako; Miyachi, Yoshiki and Kanazawa, Nobuo (2021): NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination. In: Children-Basel, Vol. 8, No. 2, 117

Abstract

We describe a patient who developed multiple granulomatous skin lesions after Bacille de Calmette et Guerin (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.

• Item Type: Journal article
• Faculties: Medicine
• Subjects: 600 Technology > 610 Medicine and health
• Language: English