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Peer-reviewedCC BYJournal of human immunity

Characterization of a novel homozygous CTLA4 variant.

  • Tegan McTaggart1,2,3
  • Jing Xuan Lim1,2,3
  • Arda Akchengel1,2,3
  • Katie Smith1,2,3
  • Sophia Landell-Wright4
  • Austen Worth5
  • Valeria Fiaccadori4
  • Ian Proctor4
  • Shoba Amarnath1,2,3
  • Ben Carpenter4,6
  • Arian Laurence4
6 affiliations
  1. 1Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle Upon Tyne, UK.
  2. 2Newcastle NIHR, Biomedical Research Centre, Newcastle Upon Tyne Hospitals, NHS Trust, Newcastle Upon Tyne, UK.
  3. 3Centre for Cancer Research, Faculty of Medical Sciences Newcastle University , Newcastle Upon Tyne, UK.
  4. 4University College London Hospitals NHS Trust , London, UK.
  5. 5Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children, London, UK.
  6. 6University College London NIHR, Biomedical Research Centre, University College London Hospitals, NHS Trust, London, UK.
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Abstract

Cytotoxic T lymphocyte-associated antigen-4 (CTLA4) is an inhibitory co-receptor. We report a homozygous variant in CTLA4 residing in the 3'UTR of the CTLA4 gene. The patient was deficient in peripheral blood T regulatory cells that was partially reversed with abatacept.

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Cite

BibTeXRIS
BibTeX
@article{mctaggart2026characterization,
  title = {{Characterization of a novel homozygous CTLA4 variant.}},
  author = {Tegan McTaggart and Jing Xuan Lim and Arda Akchengel and Katie Smith and Sophia Landell-Wright and Austen Worth and Valeria Fiaccadori and Ian Proctor and Shoba Amarnath and Ben Carpenter and Arian Laurence},
  journal = {Journal of human immunity},
  year = {2026},
  month = oct,
  doi = {10.70962/jhi.20250215},
  url = {https://europepmc.org/article/MED/42905028},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Characterization of a novel homozygous CTLA4 variant.
AU  - Tegan McTaggart
AU  - Jing Xuan Lim
AU  - Arda Akchengel
AU  - Katie Smith
AU  - Sophia Landell-Wright
AU  - Austen Worth
AU  - Valeria Fiaccadori
AU  - Ian Proctor
AU  - Shoba Amarnath
AU  - Ben Carpenter
AU  - Arian Laurence
PY  - 2026
DA  - 2026/10/21
JO  - Journal of human immunity
DO  - 10.70962/jhi.20250215
UR  - https://europepmc.org/article/MED/42905028
AB  - Cytotoxic T lymphocyte-associated antigen-4 (CTLA4) is an inhibitory co-receptor. We report a homozygous variant in CTLA4 residing in the 3'UTR of the CTLA4 gene. The patient was deficient in peripheral blood T regulatory cells that was partially reversed with abatacept.
SN  - 3065-8993
ER  -