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...

Descripción completa

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:
Case Report
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
_version_ 1783657168404217856
author Arakawa, Akiko
Kambe, Naotomo
Nishikomori, Ryuta
Tanabe, Akiyo
Ueda, Masamichi
Nishigori, Chikako
Miyachi, Yoshiki
Kanazawa, Nobuo
author_facet Arakawa, Akiko
Kambe, Naotomo
Nishikomori, Ryuta
Tanabe, Akiyo
Ueda, Masamichi
Nishigori, Chikako
Miyachi, Yoshiki
Kanazawa, Nobuo
author_sort Arakawa, Akiko
collection PubMed
description 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.
format Online
Article
Text
id pubmed-7915141
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-79151412021-03-01 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 Kanazawa, Nobuo Children (Basel) Case Report 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. MDPI 2021-02-06 /pmc/articles/PMC7915141/ /pubmed/33562038 http://dx.doi.org/10.3390/children8020117 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Arakawa, Akiko
Kambe, Naotomo
Nishikomori, Ryuta
Tanabe, Akiyo
Ueda, Masamichi
Nishigori, Chikako
Miyachi, Yoshiki
Kanazawa, Nobuo
NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination
title NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination
title_full NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination
title_fullStr NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination
title_full_unstemmed NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination
title_short NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination
title_sort nod2 mutation-associated case with blau syndrome triggered by bcg vaccination
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915141/
https://www.ncbi.nlm.nih.gov/pubmed/33562038
http://dx.doi.org/10.3390/children8020117
work_keys_str_mv AT arakawaakiko nod2mutationassociatedcasewithblausyndrometriggeredbybcgvaccination
AT kambenaotomo nod2mutationassociatedcasewithblausyndrometriggeredbybcgvaccination
AT nishikomoriryuta nod2mutationassociatedcasewithblausyndrometriggeredbybcgvaccination
AT tanabeakiyo nod2mutationassociatedcasewithblausyndrometriggeredbybcgvaccination
AT uedamasamichi nod2mutationassociatedcasewithblausyndrometriggeredbybcgvaccination
AT nishigorichikako nod2mutationassociatedcasewithblausyndrometriggeredbybcgvaccination
AT miyachiyoshiki nod2mutationassociatedcasewithblausyndrometriggeredbybcgvaccination
AT kanazawanobuo nod2mutationassociatedcasewithblausyndrometriggeredbybcgvaccination

Ejemplares similares