| KOLČAVA, Jan, Jiří LITZMAN, Josef BEDNAŘÍK, Jakub STULÍK a 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, roč. 45, October 2020, s. 1-4. ISSN 2211-0348. Dostupné z: 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 a 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, roč.~45, October 2020, s.~1-4. ISSN~2211-0348. Dostupné z: https://dx.doi.org/10.1016/j.msard.2020.102313.
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