Abreu-Velez Ana Maria, Gao Wendy, Howard Michael S
Georgia Dermatopathology Associates, Atlanta, GA, USA.
Biotechnology, Charlotte, NC, USA.
Dermatol Pract Concept. 2018 Jan 31;8(1):1-6. doi: 10.5826/dpc.0801a01. eCollection 2018 Jan.
The majority of the patients affected by a new variant of endemic pemphigus foliaceus in El Bagre, Colombia (El Bagre EPF or pemphigus Abreu-Manu), have experienced vision problems; we have previously reported several ocular abnormalities.
Here, we aimed to investigate reactivity to optic nerves in these patients. We utilized bovine, rat and mouse optic nerves, and performed immunofluorescence and confocal microscopy to test for optical nerve autoreactivity. We tested 45 patients affected by this disease and 45 controls from the endemic area matched by age, sex and work activity.
Overall, 37 of the 45 patient sera reacted to the optic nerve envelope that is composed of leptomeninges; the reactivity was polyclonal and present mostly at the cell junctions (P < 0.001). The immune response was directed against optic nerve sheath cell junctions and the vessels inside it, as well as other molecules inside the nerve. No control cases were positive. Of interest, all the patient autoantibodies co-localized with commercial antibodies to desmoplakins I-II, myocardium-enriched zonula occludens-1- associated protein (MYZAP), armadillo repeat gene deleted in velo-cardio-facial syndrome (ARVCF), and plakophilin-4 (p0071) from Progen Biotechnik (P < 0.001).
We conclude that the majority of the patients affected by pemphigus Abreu-Manu have autoantibodies to optic nerve sheath envelope cell junctions. These antibodies also co-localize with armadillo repeat gene deleted in velo-cardio-facial syndrome, p0071 and desmoplakins I-II. The clinical significance of our findings remains unknown.
在哥伦比亚的埃尔巴格雷，大多数感染地方性落叶型天疱疮新变种（埃尔巴格雷天疱疮落叶型或阿布雷乌 - 马努天疱疮）的患者都出现了视力问题；我们之前曾报告过几例眼部异常情况。
在此，我们旨在研究这些患者对视神经的反应性。我们使用牛、大鼠和小鼠的视神经，进行免疫荧光和共聚焦显微镜检查以测试视神经自身反应性。我们测试了45例受该疾病影响的患者以及45名来自地方性流行区、年龄、性别和工作活动相匹配的对照者。
总体而言，45例患者血清中有37例与由软脑膜组成的视神经包膜发生反应；这种反应是多克隆性的，主要出现在细胞连接处（P < 0.001）。免疫反应针对视神经鞘细胞连接处及其内部的血管以及神经内的其他分子。对照病例均为阴性。有趣的是，所有患者自身抗体都与Progen Biotechnik公司的桥粒斑蛋白I - II、心肌富集紧密连接蛋白1相关蛋白（MYZAP）、腭心面综合征缺失的犰狳重复基因（ARVCF）和桥粒芯蛋白4（p0071）的商业抗体共定位（P < 0.001）。
我们得出结论，大多数受阿布雷乌 - 马努天疱疮影响的患者对视神经鞘包膜细胞连接处有自身抗体。这些抗体还与腭心面综合征缺失的犰狳重复基因、p0071和桥粒斑蛋白I - II共定位。我们研究结果的临床意义尚不清楚。
