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Clinical, Radiologic, and Immunologic Features of Patients With CTLA4 Deficiency With Neurologic Involvement
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Edité par CCSD ; American Academy of Neurology -
International audience. Background and Objectives: CTLA4 deficiency (CTLA4d) is a disease with multisystem auto-immune features, including neurological manifestations. We aimed to describe neurological involvement in these patients. Methods: We performed a cross-sectional observational study using the French Reference Centre for Primary Immunodeficiencies (CEREDIH) registry, plus a surveillance in national society networks. Participants with confirmed CTLA4d and neurological involvement were included. Clinical, laboratory and radiological features were collected, as well as treatments. Available MRI were double-reviewed. Results: Among 70 patients with CTLA4d, 13 patients (21%) had neurological involvement. Neurological symptoms began at a median age of 18 [15-45] years, mostly occurring after systemic manifestations (median delay: 8.5 [4.5-10.5] years). Main symptoms included headaches, focal deficit (54% each) and seizures (38%). MRI detected at least one large contrast-enhancing lesion in eight patients. Lesions reminiscent of multiple sclerosis lesions were found in six patients. Cerebellar (6 patients) and large spinal cord lesions (3 patients) were common. Ten patients were treated with Abatacept, of whom nine (90%) showed good clinical and radiological response. Discussion: Neurologic involvement is common among patients with CTLA4d. Despite its rarity, and considering the suspected efficacy of Abatacept, neurologists should be aware of the characteristics of CTLA4d neurological involvement.
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