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Clinical, Radiologic, and Immunologic Features of Patients With CTLA4 Deficiency With Neurologic Involvement.
Coustal, Cyrille; Goulabchand, Radjiv; Labauge, Pierre; Guilpain, Philippe; Carra-Dallière, Clarisse; Januel, Edouard; Jeziorski, Eric; Salle, Valery; Viallard, Jean-François; Boutboul, David; Fieschi, Claire; Gobert, Delphine; Aladjidi, Nathalie; Rullier, Patricia; Graveleau, Julie; Piel-Julian, Marie; Suarez, Felipe; Neven, Benedicte; Mahlaoui, Nizar; Ayrignac, Xavier.
Afiliación
  • Coustal C; From 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; Departm
  • Goulabchand R; From 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; Departm
  • Labauge P; From 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; Departm
  • Guilpain P; From 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; Departm
  • Carra-Dallière C; From 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; Departm
  • Januel E; From 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; Departm
  • Jeziorski E; From 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; Departm
  • Salle V; From 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; Departm
  • Viallard JF; From 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; Departm
  • Boutboul D; From 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; Departm
  • Fieschi C; From 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; Departm
  • Gobert D; From 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; Departm
  • Aladjidi N; From 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; Departm
  • Rullier P; From 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; Departm
  • Graveleau J; From 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; Departm
  • Piel-Julian M; From 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; Departm
  • Suarez F; From 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; Departm
  • Neven B; From 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; Departm
  • Mahlaoui N; From 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; Departm
  • Ayrignac X; From 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; Departm
Neurology ; 101(15): e1560-e1566, 2023 10 10.
Article en En | MEDLINE | ID: mdl-37487754
ABSTRACT

OBJECTIVES:

CTLA4 deficiency (CTLA4d) is a disease with multisystem autoimmune features, including neurologic manifestations. We aimed to describe neurologic 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 neurologic involvement were included. Clinical, laboratory, and radiologic features were collected, as well as treatments. Available MRI was double-reviewed.

RESULTS:

Among 70 patients with CTLA4d, 13 patients (21%) had neurologic involvement. Neurologic 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 1 large contrast-enhancing lesion in 8 patients. Lesions reminiscent of multiple sclerosis lesions were found in 6 patients. Cerebellar (6 patients) and large spinal cord lesions (3 patients) were common. Ten patients were treated with abatacept, of whom 9 (90%) showed good clinical and radiologic 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 neurologic involvement.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de la Médula Espinal / Esclerosis Múltiple Tipo de estudio: Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Humans / Middle aged Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article
Texto completo
Añadir a Mi BVS
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de la Médula Espinal / Esclerosis Múltiple Tipo de estudio: Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Humans / Middle aged Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article