TY -的T1与严重的复发性神经炎症细胞毒性t淋巴球antigen-4 (CTLA4) haploinsufficiency (P1.330) JF -神经学乔-神经学六世- 88 - 16补充SP - P1.330盟马修·辛德勒AU -普Pittaluga盟Gulbu Uzel首页 AU -丹尼尔帝国盟艾琳Cortese Y1 - 2017/04/18 UR - //www.ez-admanager.com/content/88/16_Supplement/P1.330.abstract N2 -目的:定义和表型的一个新发现的基因原因存在。背景:最近,含有相关的细胞毒性t淋巴球种系突变(CTLA4),这导致haploinsufficiency免疫内稳态的重要调节器,描述了在临床队列(科学库恩等人。2014)。系统性免疫功能障碍的临床特征,包括免疫缺陷,自身免疫,异常lymphoproliferation non-lymph器官和淋巴细胞浸润(肠道、肺和脑)。中枢神经系统参与的程度和临床特征在这个新发现的疾病是不清楚。设计/方法:总共有70名患者来自27个家庭已确定在美国国立卫生研究院在CTLA4突变。35岁患者神经影像学、病理和/或神经系统临床资料供审查。前瞻性临床和放射性数据收集31日patientsResults: 15例CTLA4-associated神经炎症,神经影像学和病理学证实被确定。临床症状包括头痛(11/15)和发作(8/15)。神经系统检查通常是正常或仅显示轻微焦赤字。相比之下,核磁共振成像显示多病灶的大规模(比;20毫升的组织)病变(11/15)在幕上的白质(11/15),脑干和小脑(7/15),和脊髓(4/15)。 Leptomeningeal inflammation was seen in 7 patients, and in one case clearly preceded parenchymal involvement. Histopathologic review of CNS biopsies showed abnormal immune cell infiltration with involvement of the white matter, gray matter, and, when included, meninges. In the majority of cases the infiltrate was predominantly lymphocytic, usually composed of T cells (CD3+/CD5+/CD4>CD8) with relatively few CD20+ B cells and few neutrophils. Overt tissue destruction was rare.Conclusions: CTLA4 mutations are associated with a distinct pattern of neuroinflammation. Supported by available pathology, the clinical-radiological discordance suggests that even large, enhancing lesions need not be destructive, even when behaving as space-occupying masses. Further characterization and modeling of this genetic disorder may provide insight into the mechanisms underlying other neuroimmunological disorders.Study Supported by: Fellowship funding from the National Multiple Sclerosis Society-American Brain Foundation. Intramural funds from the National Institute of Neurological Disorders and Stroke.Disclosure: Dr. Schindler has nothing to disclose. Dr. Pittaluga has nothing to disclose. Dr. Uzel has nothing to disclose. Dr. Reich has received research support from Vertex Pharmaceuticals. Dr. Cortese has nothing to disclose. ER -