A novel mutation in early‐onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes

A novel mutation in early‐onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes

Abstract Background Early-onset sarcoidosis (EOS) and Blau syndrome (BS) are systemic inflammatory granulomatous diseases without visible pulmonary involvement, and are distinguishable from their sporadic and familial forms. The diseases are characterized by a triad of skin rashes, symmetrical polya...

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Bibliographic Details
Main Authors: Fumiko Okazaki, Hiroyuki Wakiguchi, Yuno Korenaga, Tamaki Nakamura, Hiroki Yasudo, Shohei Uchi, Ryoji Yanai, Nobuyuki Asano, Yoshinobu Hoshii, Tsuyoshi Tanabe, Kazushi Izawa, Yoshitaka Honda, Ryuta Nishikomori, Keisuke Uchida, Yoshinobu Eishi, Shouichi Ohga, Shunji Hasegawa
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Pediatric Rheumatology Online Journal
Subjects:
D512V mutation
Granulomatous disease
Methotrexate
NF-κB
NOD2
Cutibacterium acnes
Online Access:https://doi.org/10.1186/s12969-021-00505-5

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