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

被引：21

作者：

Inoue, Yuzaburo ^{[1
]}

Kawaguchi, Yasushi ^{[2
]}

Shimojo, Naoki ^{[1
]}

Yamaguchi, Kenichi ^{[3
]}

Morita, Yoshinori ^{[1
]}

Nakano, Taiji ^{[1
]}

Arima, Takayasu ^{[1
]}

Tomiita, Minako ^{[4
]}

Kohno, Yoichi ^{[1
]}

机构：

[1] Chiba Univ, Dept Pediat, Grad Sch Med, Chuo Ku, Chiba 2608670, Japan

[2] Tokyo Womens Med Univ, Inst Rheumatol, Shinjuku Ku, Tokyo 1620054, Japan

[3] St Lukes Int Hosp, Div Allergy & Rheumatol, Chuou ku, Tokyo 1040044, Japan

[4] Chiba Childrens Hosp, Dept Allergy & Rheumatol, Midori Ku, Chiba 2660007, Japan

来源：

MODERN RHEUMATOLOGY | 2013年 / 23卷 / 04期

关键词：

Blau syndrome; Early-onset sarcoidosis; NOD2; Takayasu arteritis; PEDIATRIC GRANULOMATOUS ARTHRITIS; CARD15; MUTATIONS;

D O I：

10.1007/s10165-012-0720-z

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：837 / 839

页数：3

共 22 条

[21] A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability
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De Paepe, A.
Stheneur, Ch.
Badziag, N.
Matuszewska, K.
Matyas, G.
Latos-Bielenska, A.
JOURNAL OF APPLIED GENETICS, 2009, 50 (04) : 405 - 410
[22] Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: Further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration
Xie, Fei
Cen, Zhidong
Ouyang, Zhiyuan
Wu, Sheng
Xiao, Jianfeng
Luo, Wei
PARKINSONISM & RELATED DISORDERS, 2015, 21 (04) : 420 - 422

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