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<i>NOD</i>2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination

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 examinat...

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Main Authors: Akiko Arakawa (Author), Naotomo Kambe (Author), Ryuta Nishikomori (Author), Akiyo Tanabe (Author), Masamichi Ueda (Author), Chikako Nishigori (Author), Yoshiki Miyachi (Author), Nobuo Kanazawa (Author)
Format: Book
Published: MDPI AG, 2021-02-01T00:00:00Z.
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Summary: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 <i>NOD</i>2 was detected by a genetic analysis, and he was diagnosed as sporadic Blau syndrome. Since <i>NOD</i>2 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 Description:10.3390/children8020117
2227-9067

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