Wouters Carine H, Maes Anne, Foley Kevin P, Bertin John, Rose Carlos D
Department of Microbiology and Immunology, Pediatric Immunology, KU Leuven - University of Leuven, B-3000 Leuven, Belgium ; Department of Pediatrics, Division Pediatric Rheumatology, University Hospitals Leuven, B-3000 Leuven, Belgium.
Department of Pediatrics, Division Pediatric Rheumatology, University Hospitals Leuven, B-3000 Leuven, Belgium.
Pediatr Rheumatol Online J. 2014 Aug 6;12:33. doi: 10.1186/1546-0096-12-33. eCollection 2014.
Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor NOD2, and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis and uveitis. This paper reviews briefly the classical clinical features of the disease, as well as more recently described extra-triad symptoms. From an ongoing prospective multicenter study, we provide new data on the natural history of Blau syndrome, focusing on functional status and visual outcome. We also present an update of the range of different NOD2 mutations found in Blau syndrome as well as recent data on morphologic and immunohistochemical characteristics of the Blau granuloma. Finally, emerging insights into pathogenic mechanisms including activation of NOD2 signal transduction, and potential biomarkers of disease activity are discussed.
布劳综合征是一种由模式识别受体NOD2突变引起的单基因疾病，其表型特征为肉芽肿性多关节炎、皮炎和葡萄膜炎三联征。本文简要回顾了该疾病的经典临床特征以及最近描述的三联征以外的症状。通过一项正在进行的前瞻性多中心研究，我们提供了关于布劳综合征自然史的新数据，重点关注功能状态和视觉预后。我们还介绍了布劳综合征中发现的不同NOD2突变范围的最新情况，以及布劳肉芽肿形态学和免疫组织化学特征的最新数据。最后，讨论了对致病机制的新见解，包括NOD2信号转导的激活以及疾病活动的潜在生物标志物。
