Vol.23 No.4

Case Report

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

Authors

Yuzaburo Inoue1 , Yasushi Kawaguchi2 , Naoki Shimojo1 , Kenichi Yamaguchi3 , Yoshinori Morita1 , Taiji Nakano1 , Takayasu Arima1 , Minako Tomiita4 , Yoichi Kohno1

  • Department of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba Chiba, 260-8670, Japan
  • Institute of Rheumatology, Tokyo Women’s Medical University, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan
  • Division of Allergy and Rheumatology, St. Luke’s International Hospital, 9-1 Akashi-cho, Chuou-ku, Tokyo 104-0044, Japan
  • Department of Allergy and Rheumatology, Chiba Children’s Hospital, 579-1 Henda-cho, Midori-ku, Chiba Chiba, 266-0007, Japan
Received:

3 February 2012

Accepted:

27 June 2012

Published online:

21 July 2012

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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-offunction 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.

Key words

Blau syndrome, Early-onset sarcoidosis, NOD2, Takayasu arteritis