Rett syndrome: An autoimmune disease?
Rett syndrome: An autoimmune disease?
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DOI：
10.1016/j.autrev.2016.01.011
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发表时间：
2016-04-01
影响因子：
13.6
通讯作者：
Hayek, Joussef
中科院分区：
文献类型：
--
作者：
De Felice, Claudio;Leoncini, Silvia;Hayek, Joussef
Rett综合征（RTT）是一种毁灭性的神经发育疾病，以前被纳入自闭症谱系障碍，几乎只影响女性（频率1：10，000）。RTT除了具有呼吸障碍、癫痫和猝死风险增加外，还导致意识缺陷、有目的的手部使用丧失和晚期主要运动障碍。这种情况在高达95%的病例中是由X连锁甲基CpG结合蛋白2（MECP 2）基因突变引起的。我们的小组已经显示了一些以前未被认识到的特征，如全身氧化还原失衡，慢性炎症状态，呼吸性细支气管炎相关的间质性肺病样肺病，红细胞形态学改变。虽然MeCP 2在免疫应答中密切参与的证据正在积累，但我们最近显示了RTT中的细胞因子失调。越来越多的证据表明，MECP 2和免疫功能障碍之间的关系，显然，MECP 2基因多态性和自身免疫性疾病，包括原发性干燥综合征，系统性红斑狼疮，类风湿性关节炎，系统性硬化症之间的联系。抗神经元（即，脑蛋白）抗体的研究。最近，高水平的抗N-葡萄糖基化（N-Glc）IgM血清自身抗体[即，抗CSF 114（N-Glc）IgM]在统计学显著数量的RTT患者中被我们的组检测到。在目前的审查中，作者探讨了目前的证据，无论是赞成还是反对，在MT的自身免疫成分的存在。(C)© 2016 Elsevier B. V.版权所有。
Rett syndrome (RTT) is a devastating neurodevelopmental disease, previously included into the autistic spectrum disorders, affecting almost exclusively females (frequency 1:10,000). RTT leads to intellective deficit, purposeful hands use loss and late major motor impairment besides featuring breathing disorders, epilepsy and increased risk of sudden death. The condition is caused in up to 95% of the cases by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene. Our group has shown a number of previously unrecognized features, such as systemic redox imbalance, chronic inflammatory status, respiratory bronchiolitis-associated interstitial lung disease-like lung disease, and erythrocyte morphology changes. While evidence on an intimate involvement of MeCP2 in the immune response is cumulating, we have recently shown a cytokine dysregulation in RTT. Increasing evidence on the relationship between MeCP2 and an immune dysfunction is reported, with, apparently, a link between MECP2 gene polymorphisms and autoimmune diseases, including primary Sjogren's syndrome, systemic lupus erythematosus, rheumatoid arthritis, and systemic sclerosis. Antineuronal (i.e., brain proteins) antibodies have been shown in RTT. Recently, high levels of anti-N-glucosylation (N-Glc) IgM serum autoantibodies [i.e., anti-CSF114(N-Glc) IgMs] have been detected by our group in a statistically significant number of RTT patients. In the current review, the Authors explore the current evidence, either in favor or against, the presence of an autoimmune component in MT. (C) 2016 Elsevier B.V. All rights reserved.