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Article

Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.

Arthritis and rheumatism - 1 Jan 2009

Okafuji Ikuo, Nishikomori Ryuta, Kanazawa Nobuo, Kambe Naotomo, Fujisawa Akihiro, Yamazaki Shin, Saito Megumu, Yoshioka Takakazu, Kawai Tomoki, Sakai Hidemasa, Tanizaki Hideaki, Heike Toshio, Miyachi Yoshiki, Nakahata Tatsutoshi

Abstract excerpt

OBJECTIVE: Blau syndrome and its sporadic counterpart, early-onset sarcoidosis (EOS), share a phenotype featuring the symptom triad of skin rash, arthritis, and uveitis. This systemic inflammatory granulomatosis is associated with mutations in the NOD2 gene. The aim of this study was to describe the clinical manifestations of Blau syndrome/EOS in Japanese patients and to determine whether the NOD2 genotype and...

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Identifiers

PMID: 19116920
DOI: 10.1002/art.24134

Genes

NOD2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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