Work

Characterization of a novel homozygous CTLA4 variant

Year: 2026

Type: article

Study design: Case Report

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.

Source: Journal of Human Immunity

DOI: 10.70962/jhi.20250215

Authors: Tegan McTaggart, Jing Xuan Lim, Arda Akchengel, Katie Smith, Sophia Landell-Wright, Austen Worth, Valeria Fiaccadori, Ian Proctor, Shoba Amarnath, Ben Carpenter, Arian Laurence

Institutions: NIHR Newcastle Biomedical Research Centre, Newcastle University, University College London Hospitals NHS Foundation Trust, University College London, Great Ormond Street Hospital, UCL Biomedical Research Centre

Language: English

Topic: T-cell and B-cell Immunology

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7223146354

FWCI:

Cites: 5

Cited by:

Related to: 10