Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report
Jazyk angličtina Země Nizozemsko Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články
PubMed
32623363
DOI
10.1016/j.msard.2020.102313
PII: S2211-0348(20)30389-8
Knihovny.cz E-zdroje
- Klíčová slova
- Autoimmunity, CTLA-4 antigen, Demyelinating diseases, Genetic diseases, T-lymphocytes,
- MeSH
- antigen CTLA-4 genetika MeSH
- autoimunitní nemoci * MeSH
- imunologická tolerance MeSH
- lidé MeSH
- mutace MeSH
- regulační T-lymfocyty MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- antigen CTLA-4 MeSH
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.
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