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

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.

journal_name

Mod Rheumatol

journal_title

Modern rheumatology

authors

Inoue Y,Kawaguchi Y,Shimojo N,Yamaguchi K,Morita Y,Nakano T,Arima T,Tomiita M,Kohno Y

doi

10.1007/s10165-012-0720-z

subject

Has Abstract

pub_date

2013-07-01 00:00:00

pages

837-9

issue

4

eissn

1439-7595

issn

1439-7609

journal_volume

23

pub_type

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