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

J 2020

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

KOLČAVA, Jan, Jiří LITZMAN, Josef BEDNAŘÍK, Jakub STULÍK, Pavel ŠTOURAČ et. al.

Základní údaje

Originální název

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

Název česky

Neurologická manifestace dysregulace imunitního systému při mutaci CTLA-4: kazuistika

Autoři

KOLČAVA, Jan (203 Česká republika, domácí), Jiří LITZMAN (203 Česká republika, domácí), Josef BEDNAŘÍK (203 Česká republika, domácí), Jakub STULÍK (203 Česká republika) a Pavel ŠTOURAČ (203 Česká republika, garant, domácí)

Vydání

MULTIPLE SCLEROSIS AND RELATED DISORDERS, OXFORD, ELSEVIER SCI LTD, 2020, 2211-0348

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30103 Neurosciences

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 4.339

Kód RIV

RIV/00216224:14110/20:00116076

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/j.msard.2020.102313

UT WoS

000582230900002

Klíčová slova anglicky

CTLA-4 antigen; T-lymphocytes; Autoimmunity; Genetic diseases; Demyelinating diseases

Štítky

14110114, 14110221, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 13. 5. 2021 07:44, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

MUNI/A/1325/2019, interní kód MU

Název: Diagnostika a patofyziologie neuropatické bolesti (Akronym: PNB)

Investor: Masarykova univerzita, Diagnostika a patofyziologie neuropatické bolesti, DO R. 2020_Kategorie A - Specifický výzkum - Studentské výzkumné projekty

Citovat

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.

@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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