Immunogenetic mechanisms in Behcet's Disease

在美国，葡萄膜炎导致约30，000例新的法律的失明，占所有失明病例的2.8-10%（1）。Behets病（BD）是一种病因不明的慢性复发性多系统炎性疾病，其特征为眼内炎症、口腔和粘膜溃疡、皮肤病变和可能影响其他身体器官（如关节、肠道、附睾、血管和中枢神经系统）的炎症（2）。对于全身免疫抑制治疗难治或不耐受的BD眼部表现患者，需要更安全、更有效的治疗方法，这需要进一步研究。报道定义了白细胞介素（IL）-17 A在Behets病发病机制中的特定作用。 本方案将评价BD受试者的免疫介质，包括细胞因子谱（可溶性和细胞内）、淋巴细胞表型和调节性T细胞。还将研究表观遗传修饰。 此外，有人认为美国/西方BD患者可能具有与地中海患者不同的疾病特征。将比较和评估美国/西方和地中海BD患者的疾病特征。将采集参加其他NIH方案的BD受试者的血液样本，其中受试者同意其他或未来使用样本（特别是来自NIH方案03-AR-0173的当前受试者，其中NEI是合作者）。总之，将针对不同种族群体中的疾病和疾病的临床特征（例如，眼部与非眼部受累，活动性与静止性疾病）。 将从NIH临床中心（CC）血库获得匿名血样（人种、年龄和性别匹配），并将其与患病样本进行比较。

Uveitis is responsible for approximately 30,000 cases of new legal blindness in the United States and 2.8-10% of all cases of blindness (1). Behets disease (BD) is a chronic relapsing multisystem inflammatory disorder of unknown etiology that is characterized by intraocular inflammation, oral and mucosal ulcerations, cutaneous lesions and inflammation that may affect other body organs such as the joints, intestinal tract, epididymis, blood vessels and the central nervous system (2). The need for a safer and more effective therapy for patients with ocular manifestations of BD refractory to or intolerant of systemic immunosuppressive therapy warrants further investigation. Reports define a specific role for interleukin (IL)-17A in the pathogenesis of Behets disease. This protocol will evaluate immune mediators including cytokine profiles (soluble and intracellular), lymphocyte phenotyping and regulatory T-cells in participants with BD. Epigenetic modifications will also be studied. Additionally, it has been suggested that American/Western BD patients may have different disease characteristics than their Mediterranean counterparts. The disease characteristics of American/Western and Mediterranean BD patients will be compared and evaluated. Blood samples from BD participants that have participated in other NIH protocols where participants consented for other or future use of samples has been obtained will be collected (particularly from current participants of NIH protocol 03-AR-0173 in which NEI is a collaborator. In summary, the results will be analyzed with respect to disease in different ethnic groups, and clinical features of the disease (e.g., ocular vs. non-ocular involvement, active vs. quiescent disease). Anonymous blood samples (matched for race, age and sex) will be obtained from the NIH clinical center (CC) blood bank and will be compared to the diseased samples.