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Article

Early diagnosis of early-onset sarcoidosis: a case report with functional analysis and review of the literature.

Clinical rheumatology - 1 May 2017

Takeuchi Yusuke, Shigemura Tomonari, Kobayashi Norimoto, Kaneko Naoe, Iwasaki Tomoyuki, Minami Kisei, Kobayashi Keiko, Masumoto Junya, Agematsu Kazunaga

Abstract excerpt

This study examined the pathogenesis of early-onset sarcoidosis (EOS) in a patient with a rare NOD2 mutation and surveyed the literature to identify the hallmark features for early diagnosis. An infant girl suffering from prolonged fever and skin rash of multiple pinkish papules and subsequent erythema nodosum was referred to our institution. Skin biopsy and DNA sequencing were performed along with cytokine...

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Identifiers

PMID: 28130683
DOI: 10.1007/s10067-017-3544-6

Genes

NOD2

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