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.

Basic information

Original name

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

Name in Czech

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

Authors

KOLČAVA, Jan (203 Czech Republic, belonging to the institution), Jiří LITZMAN (203 Czech Republic, belonging to the institution), Josef BEDNAŘÍK (203 Czech Republic, belonging to the institution), Jakub STULÍK (203 Czech Republic) and Pavel ŠTOURAČ (203 Czech Republic, guarantor, belonging to the institution)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30103 Neurosciences

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 4.339

RIV identification code

RIV/00216224:14110/20:00116076

Organization unit

Faculty of Medicine

DOI

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

UT WoS

000582230900002

Keywords in English

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

Abstract

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.

Links

MUNI/A/1325/2019, interní kód MU

Name: Diagnostika a patofyziologie neuropatické bolesti (Acronym: PNB)

Investor: Masaryk University, Category A

Citovat

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.

@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.

Detailed Information on Publication Record