Dow C Thomas, Ellingson Jay L E
Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, 600 Highland Avenue, Madison, WI 53792, USA.
Autoimmune Dis. 2010 Jun 20;2011:127692. doi: 10.4061/2010/127692.
Background and Aim of the Work. Blau syndrome is an inherited granulomatous inflammatory disorder with clinical findings of uveitis, arthritis, and dermatitis. Although rare, Blau syndrome shares features with the more common diseases sarcoidosis and Crohn's disease. The clinical findings of Blau syndrome are indistinguishable from juvenile sarcoidosis; the mutations of Blau syndrome are on the same gene of chromosome 16 (CARD15) that confers susceptibility to Crohn's disease. The product of this gene is part of the innate immune system. Mycobacterium avium ss. paratuberculosis (MAP) is the putative cause of Crohn's disease and has been implicated as a causative agent of sarcoidosis. Methods. Archival tissues of individuals with Blau syndrome were tested for the presence of MAP. Results. DNA evidence of MAP was detected in all of the tissues. Conclusions. This article finds that MAP is present in Blau syndrome tissue and postulates that it has a causal role. The presence of MAP in Blau syndrome-an autosomal dominant, systemic inflammatory disease-connects genetic and environmental aspects of "autoimmune" disease.
研究背景与目的。布劳综合征是一种遗传性肉芽肿性炎症性疾病，临床表现为葡萄膜炎、关节炎和皮炎。尽管布劳综合征较为罕见，但它与更常见的结节病和克罗恩病有共同特征。布劳综合征的临床表现与青少年结节病难以区分；布劳综合征的突变发生在16号染色体的同一基因（CARD15）上，该基因赋予个体患克罗恩病的易感性。该基因的产物是先天性免疫系统的一部分。副结核分枝杆菌（MAP）被认为是克罗恩病的病因，也被认为与结节病的发病有关。方法。对布劳综合征患者的存档组织进行MAP检测。结果。在所有组织中均检测到MAP的DNA证据。结论。本文发现MAP存在于布劳综合征组织中，并推测其具有致病作用。MAP在布劳综合征（一种常染色体显性全身性炎症性疾病）中的存在，将“自身免疫性”疾病的遗传和环境因素联系了起来。
