KOLČAVA, Jan, Jiří LITZMAN, Josef BEDNAŘÍK, Jakub STULÍK and Pavel ŠTOURAČ. Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report. MULTIPLE SCLEROSIS AND RELATED DISORDERS. OXFORD: ELSEVIER SCI LTD, 2020, vol. 45, October 2020, p. 1-4. ISSN 2211-0348. Available from: https://dx.doi.org/10.1016/j.msard.2020.102313. |
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@article{1672077, author = {Kolčava, Jan and Litzman, Jiří and Bednařík, Josef and Stulík, Jakub and Štourač, Pavel}, article_location = {OXFORD}, article_number = {October 2020}, doi = {http://dx.doi.org/10.1016/j.msard.2020.102313}, keywords = {CTLA-4 antigen; T-lymphocytes; Autoimmunity; Genetic diseases; Demyelinating diseases}, language = {eng}, issn = {2211-0348}, journal = {MULTIPLE SCLEROSIS AND RELATED DISORDERS}, title = {Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report}, url = {https://doi.org/10.1016/j.msard.2020.102313}, volume = {45}, year = {2020} }
TY - JOUR ID - 1672077 AU - Kolčava, Jan - Litzman, Jiří - Bednařík, Josef - Stulík, Jakub - Štourač, Pavel PY - 2020 TI - Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report JF - MULTIPLE SCLEROSIS AND RELATED DISORDERS VL - 45 IS - October 2020 SP - 1-4 EP - 1-4 PB - ELSEVIER SCI LTD SN - 22110348 KW - CTLA-4 antigen KW - T-lymphocytes KW - Autoimmunity KW - Genetic diseases KW - Demyelinating diseases UR - https://doi.org/10.1016/j.msard.2020.102313 L2 - https://doi.org/10.1016/j.msard.2020.102313 N2 - 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. ER -
KOLČAVA, Jan, Jiří LITZMAN, Josef BEDNAŘÍK, Jakub STULÍK and Pavel ŠTOURAČ. Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report. \textit{MULTIPLE SCLEROSIS AND RELATED DISORDERS}. OXFORD: ELSEVIER SCI LTD, 2020, vol.~45, October 2020, p.~1-4. ISSN~2211-0348. Available from: https://dx.doi.org/10.1016/j.msard.2020.102313.
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