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01.07.2013 | Case Report

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

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

Erschienen in: Modern Rheumatology | Ausgabe 4/2013

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Abstract

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 changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.

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Titel: A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?
verfasst von: Yuzaburo Inoue
Yasushi Kawaguchi
Naoki Shimojo
Kenichi Yamaguchi
Yoshinori Morita
Taiji Nakano
Takayasu Arima
Minako Tomiita
Yoichi Kohno
Publikationsdatum: 01.07.2013
Verlag: Springer Japan
Erschienen in: Modern Rheumatology / Ausgabe 4/2013
Print ISSN: 1439-7595
Elektronische ISSN: 1439-7609
DOI: https://doi.org/10.1007/s10165-012-0720-z

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

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