CNS demyelination associated with immune dysregulation and a novel CTLA-4 variant

Stefania Kaninia*, Alexandros Grammatikos, Kathryn Urankar, Shelley Renowden, Nik Patel, Mark Gompels, Claire M Rice

*Corresponding author for this work

Research output: Contribution to journalLetter (Academic Journal)peer-review

3 Citations (Scopus)
47 Downloads (Pure)


The cytotoxic T-lymphocyte antigen-4 (CTLA-4) pathway acts as a negative immune regulator of T cell activation and promotes self-tolerance.

We report the first case of biopsy-proven central nervous system inflammatory demyelination in the context of primary immunodeficiency and a novel CTLA-4 variant.

This case has significant implications for the development of novel treatments for autoimmune conditions including Multiple Sclerosis and further emphasises the need for caution with clinical use of CTLA-4 immune checkpoint inhibitors in those with a history of inflammatory demyelination.

Original languageEnglish
Pages (from-to)1464-1467
Number of pages4
JournalMultiple Sclerosis Journal
Issue number9
Early online date7 Jun 2021
Publication statusPublished - Aug 2021

Bibliographical note

Funding Information:
The author(s) disclosed receipt of the following financial support for the research, authorship and/or publication of this article: No targeted funding reported. S.K. is supported by an ECTRIMS (European Committee for Treatment and Research in Multiple Sclerosis) fellowship.

Publisher Copyright:
© The Author(s), 2021.


  • CTLA-4
  • demyelination


Dive into the research topics of 'CNS demyelination associated with immune dysregulation and a novel CTLA-4 variant'. Together they form a unique fingerprint.

Cite this