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Article

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

Multiple sclerosis and related disorders - 1 Oct 2020

Kolcava Jan, Litzman Jiri, Bednarik Josef, Stulik Jakub, Stourac Pavel

Abstract excerpt

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...

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Identifiers

PMID: 32623363
DOI: 10.1016/j.msard.2020.102313

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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