Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F20%3A00073340" target="_blank" >RIV/00159816:_____/20:00073340 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/20:00116076 RIV/65269705:_____/20:00073340
Result on the web
<a href="https://www.sciencedirect.com/science/article/pii/S2211034820303898?via%3Dihub" target="_blank" >https://www.sciencedirect.com/science/article/pii/S2211034820303898?via%3Dihub</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.msard.2020.102313" target="_blank" >10.1016/j.msard.2020.102313</a>
Alternative languages
Result language
angličtina
Original language name
Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report
Original language 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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30210 - Clinical neurology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Multiple Sclerosis and Related Disorders
ISSN
2211-0348
e-ISSN
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Volume of the periodical
45
Issue of the periodical within the volume
OCT 2020
Country of publishing house
GB - UNITED KINGDOM
Number of pages
4
Pages from-to
102313
UT code for WoS article
000582230900002
EID of the result in the Scopus database
2-s2.0-85087137753