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Article

A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?

Modern rheumatology - 1 Jul 2013

Inoue Yuzaburo, Kawaguchi Yasushi, Shimojo Naoki, Yamaguchi Kenichi, Morita Yoshinori, Nakano Taiji, Arima Takayasu, Tomiita Minako, Kohno Yoichi

Abstract excerpt

Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous...

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Source

Identifiers

PMID: 22821420
DOI: 10.1007/s10165-012-0720-z

Genes

NOD2

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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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