ρGTPase激活蛋白26 (ARHGAP26)免疫球蛋白自身免疫:频率和临床协会(P3.346)

文摘

目的:报告的频率、临床特点,免疫治疗反应和肿瘤协会的一个刚被公认的神经元自身抗体,ARHGAP26-IgG。背景:到目前为止,已报告4 ARHGAP26-IgG患者:3有小脑性共济失调与卵巢癌(1)和第四个病人边缘脑炎共存的几种Kv1-potassium channel-complex抗体。设计/方法:在服务的过程中评估病人的血清对多种自身抗体,从2007年到2015年,免疫球蛋白g在100年被分类(按鼠标组织的间接免疫荧光法测定)产生小脑染色的“美杜莎的头型”模式。这些血清评估ARHGAP26-IgG使用转染细胞的存在分析(Euroimmun,德国)。结果:发现ARHGAP26-IgG 13个病人的血清:62 (percnt)是男性;平均年龄在神经系统症状出现在61年(范围19 - 76)。三个临床亚组患者中观察到12可用临床信息:1]孤立小脑性共济失调(5),2)孤立的周围神经病变(3)和3)小脑性共济失调”+“其他神经症状(4);周围神经病变2例,pseudobulbar影响和认知下降1。MRI大脑、小脑性共济失调患者可用3显示小脑萎缩3;另外1脑干萎缩。 Follow-up information concerning neoplastic associations was limited: one patient had squamous-cell carcinoma in a cervical lymph node (primary unknown); two had increased FDG uptake on PET-CT body imaging (mediastinal lymph nodes [1]; lingual tonsils/inguinal lymph nodes [1]). None of 8 patients who received immunotherapy reported improvement. The frequency of ARHGAP26-IgG detection in the 12-month-period 2014-2015 was 0.004[percnt] (2 among 52,000 sera evaluated), higher than the 0.002[percnt] detection frequency for PCA-Tr (Delta/notch-like epidermal growth factor-related receptor), but lower than the 0.015[percnt] frequency of another Medusa head-type autoantibody (ITPR1-IgG). Conclusion: Common manifestations of ARHGAP26 autoimmunity include subacute ataxia/ cerebellar degeneration and peripheral neuropathy. Cases in this series responded poorly to immunotherapy.

披露:Alfugham博士没有披露。列侬博士已经收到了来自美国国立卫生研究院的研究支持。科莫罗夫斯基博士已经收到个人活动与补偿EuroImmun AG)作为一个员工。Probst博士没有披露。Pittock博士已收到(皇室或执照费或合同权利)支付从Peripherin-Specific自身抗体作为神经系统和内分泌系统疾病的标志。