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NOD2 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 examinati...

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Detalles Bibliográficos
Autores principales: Arakawa, Akiko, Kambe, Naotomo, Nishikomori, Ryuta, Tanabe, Akiyo, Ueda, Masamichi, Nishigori, Chikako, Miyachi, Yoshiki, Kanazawa, Nobuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915141/
https://www.ncbi.nlm.nih.gov/pubmed/33562038
http://dx.doi.org/10.3390/children8020117
Descripción
Sumario: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.