患有CTLA4缺乏症患者的神经系统参与的临床,放射和免疫特征
Cyrille Coustal1, Radjiv Goulabchand1, Pierre Labauge1
1From the Department of Internal Medicine and Multi-Organic Diseases (C.C., P.G., P.R.), Local Referral Center for Rare Autoimmune Diseases, Montpellier University Hospital; University of Montpellier (C.C., R.G., P.L., P.G., E. Jeziorski, X.A.); Internal Medicine Department (R.G.), CHU Nîmes; Department of Neurology (P.L., C.C.-D., X.A.), Montpellier University Hospital; INM (P.L., X.A.), INSERM; Institute of Regenerative Medicine and Biotherapy (P.G.), INSERM U1183, Montpellier; Sorbonne Université (E. Januel); Institut Pierre Louis d'Epidémiologie et de Santé Publique (E. Januel), Département de Santé Publique; Département de Neurologie (E. Januel), Hôpital Pitié Salpêtrière, AP-HP, Paris; Pediatrics Department (E. Jeziorski), Montpellier University Hospital; Department of Internal Medicine (V.S.), Amiens University Medical Center; Internal Medicine Department (J.-F.V.), Bordeaux University Hospital Centre, Hôpital Haut-Lévêque, Pessac; Clinical Immunology Department (D.B., C.F.), National Reference Center for Castleman Disease; UMR 1149 CRI INSERM (D.B.), Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP); Université Paris Diderot (D.B., C.F.); Inserm U1126 (C.F.), Centre Hayem, Hôpital Saint-Louis; Internal Medicine Department (D.G.), Hôpital Saint Antoine, APHP, Paris; Pediatric Oncology Hematology Unit (N.A.), Bordeaux University Hospital; Plurithématique CIC (CICP) (N.A.), Centre d'Investigation Clinique (CIC) 1401, INSERM; Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE) (N.A.), Bordeaux; Department of Internal Medicine (J.G.), Saint-Nazaire Hospital; Department of Internal Medicine (M.P.-J.), Purpan University Hospital, Toulouse; Department of Hematology (F.S.), Necker-Enfants Malades University Hospital, AP-HP; INSERM UMR 1163 and CNRS ERL 8254 (F.S.), Imagine Institut; Descartes University (F.S., B.N.); Pediatric Hematology-Immunology and Rheumatology Department (B.N., N.M.), Hôpital Necker-Enfants Malades, AP-HP; Laboratory of Immunogenetics of Pediatric Autoimmunity (B.N.), INSERM UMR 1163, Imagine Institute; and French National Reference Center for Primary Immune Deficiencies (CEREDIH) (N.M.), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
在CTLA4缺乏症 (CTLA4d) 中,神经系统的参与是常见的,通常在其他症状出现数年后出现. 在大多数受影响患者中,Abatacept治疗显示出显著的临床和放射性改善.
科学领域:
- 免疫学 免疫学 免疫学
- 神经学 神经学
- 遗传学 遗传学 是一个
背景情况:
- CTLA4缺乏症 (CTLA4d) 是一种罕见的遗传疾病,具有多系统自身免疫表现的特征.
- 神经系统的参与是CTLA4d.的一个已知的,但尚未完全表征的特征.
研究的目的:
- 描述CTLA4缺乏症患者神经系统干预的临床,放射和治疗特征.
主要方法:
- 使用国家注册和监控网络进行横截面观测研究.
- 包括已确认CTLA4d和已记录的神经病症参与的患者.
- 收集和审查临床,实验室,放射学 (MRI) 和治疗数据.
主要成果:
- 在70名CTLA4d患者中有21%观察到神经系统干扰,通常在全身症状出现多年后表现出来.
- 常见的神经症状包括头痛,焦点缺陷和发作;MRI显示了增强对比度的病变和脱髓化的病变.
- 在10名患者的阿巴塞普治疗导致了90%的显著临床和放射性改善.
结论:
- 神经症状是CTLA4缺乏的常见并发症.
- 神经学家应考虑CTLA4d在无法解释的自身免疫神经系统疾病的差异诊断.
- 阿巴cept似乎是CTLA4d.神经系统参与的一个有效的治疗选择.
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