{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle Upon Tyne, UK.",
    "Newcastle NIHR, Biomedical Research Centre, Newcastle Upon Tyne Hospitals, NHS Trust, Newcastle Upon Tyne, UK.",
    "Centre for Cancer Research, Faculty of Medical Sciences Newcastle University , Newcastle Upon Tyne, UK.",
    "University College London Hospitals NHS Trust , London, UK.",
    "Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children, London, UK.",
    "University College London NIHR, Biomedical Research Centre, University College London Hospitals, NHS Trust, London, UK."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 11,
  "authors": [
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Tegan McTaggart",
      "orcid": "0009-0002-0683-2062"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Jing Xuan Lim",
      "orcid": "0000-0003-2288-3812"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Arda Akchengel",
      "orcid": "0009-0005-4320-0736"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Katie Smith",
      "orcid": "0000-0003-1034-1629"
    },
    {
      "affs": [
        3
      ],
      "name": "Sophia Landell-Wright",
      "orcid": "0009-0000-1851-2168"
    },
    {
      "affs": [
        4
      ],
      "name": "Austen Worth",
      "orcid": "0000-0001-6803-7385"
    },
    {
      "affs": [
        3
      ],
      "name": "Valeria Fiaccadori",
      "orcid": "0000-0002-4855-6855"
    },
    {
      "affs": [
        3
      ],
      "name": "Ian Proctor",
      "orcid": "0009-0006-3091-9124"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Shoba Amarnath",
      "orcid": "0000-0001-8081-8432"
    },
    {
      "affs": [
        3,
        5
      ],
      "name": "Ben Carpenter",
      "orcid": "0000-0002-7914-0799"
    },
    {
      "affs": [
        3
      ],
      "name": "Arian Laurence",
      "orcid": "0000-0003-0942-8292"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/9esm0zqk14gs5.bib",
  "cited_by": 0,
  "doi": "10.70962/jhi.20250215",
  "fulltext_url": "https://europepmc.org/articles/PMC13685711",
  "id": "9esm0zqk14gs5",
  "issns": [
    "3065-8993"
  ],
  "landing_url": "https://europepmc.org/article/MED/42905028",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2403|T-cell and B-cell Immunology"
    ]
  ],
  "openalex": "W7223146354",
  "pdf_url": "https://europepmc.org/articles/PMC13685711?pdf=render",
  "pmcid": "PMC13685711",
  "pmid": "42905028",
  "published": "2026-10-21",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/9esm0zqk14gs5.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:53Z",
      "native_id": "MED:42905028",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42905028"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2403|T-cell and B-cell Immunology",
      "subfield": "immunology"
    }
  ],
  "title": "Characterization of a novel homozygous CTLA4 variant.",
  "title_text": "Characterization of a novel homozygous CTLA4 variant.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:19:53Z",
  "url": "https://research.draconitic.com/paper/9esm0zqk14gs5",
  "venue": "Journal of human immunity",
  "versions": []
}