A family with a novel CTLA4 haploinsufficiency mutation and neurological symptoms

Alexandros Grammatikos*, Sarah Johnston, Claire M Rice, Mark Gompels

*Corresponding author for this work

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

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Abstract

CTLA4 haploinsufficiency is a rare autosomal dominant immune dysregulation disorder first described in 2014 [1, 2]. Patients with this disorder exhibit reduced expression of CTLA4, an inhibitory receptor that is found on activated and regulatory T lymphocytes, with subsequent T cell hyperactivation and lymphoproliferation. Here we report three members of the same family with a novel CTLA4 haploinsufficiency and neurological complications.
Original languageEnglish
Pages (from-to)1411-1416
Number of pages6
JournalJournal of Clinical Immunology
Volume41
Issue number6
Early online date6 May 2021
DOIs
Publication statusPublished - Aug 2021

Bibliographical note

Funding Information:
We would like to thank Dr. Fiona Moghaddas for her help in the preparation of this manuscript.

Keywords

  • CTLA4 haploinsufficiency
  • neurological symptoms
  • lymphoproliferation
  • autoimmunity
  • demyelination
  • immune tolerance

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