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Article

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

Pediatric rheumatology online journal - 18 Feb 2021

Okazaki Fumiko, Wakiguchi Hiroyuki, Korenaga Yuno, Nakamura Tamaki, Yasudo Hiroki, Uchi Shohei, Yanai Ryoji, Asano Nobuyuki, Hoshii Yoshinobu, Tanabe Tsuyoshi, Izawa Kazushi, Honda Yoshitaka, Nishikomori Ryuta, Uchida Keisuke, Eishi Yoshinobu, Ohga Shouichi, Hasegawa Shunji

Abstract excerpt

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 polyarthritis, and recurrent uveitis. The most common morbidity is ocular involvement, which is usually refractory to...

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Identifiers

PMID: 33602264
DOI: 10.1186/s12969-021-00505-5
PMCID: PMC7890802

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