Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report

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Authors	KOLČAVA Jan LITZMAN Jiří BEDNAŘÍK Josef STULÍK Jakub ŠTOURAČ Pavel
Year of publication	2020
Type	Article in Periodical
Magazine / Source	MULTIPLE SCLEROSIS AND RELATED DISORDERS
MU Faculty or unit	Faculty of Medicine
Citation
Web	https://doi.org/10.1016/j.msard.2020.102313
Doi	http://dx.doi.org/10.1016/j.msard.2020.102313
Keywords	CTLA-4 antigen; T-lymphocytes; Autoimmunity; Genetic diseases; Demyelinating diseases
Description	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.
Related projects:	Diagnostika a patofyziologie neuropatické bolesti