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This contribution reports the case of a young female patient with a cytotoxic T-lymphocyte antigen 4 (CTLA-4) heterozygous missense mutation giving rise to a broad range of autoimmune diseases, including central nervous system inflammation presenting as disseminated intramedullary and infiltrating brain lesions on MRI. Multiple sclerosis was one of the diagnoses considered. CTLA-4 is a negative immune regulator essential for the function of regulatory T-cells, themselves responsible for maintaining self-tolerance and immune homeostasis. Heterozygous germline mutations in CTLA-4 may lead to an autosomal dominant immune dysregulation syndrome with highly variable phenotype, including various immunodeficiency and autoimmune diseases, along with neurological manifestations. Copyright © 2020. Published by Elsevier B.V.


Jan Kolcava, Jiri Litzman, Josef Bednarik, Jakub Stulik, Pavel Stourac. Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report. Multiple sclerosis and related disorders. 2020 Oct;45:102313

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PMID: 32623363

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