Outline
DOI: 10.70962/jhi.20250215 ISSN: 3065-8993
Characterization of a novel homozygous CTLA4 variant
Tegan McTaggart, Jing Xuan Lim, Arda Akchengel, Katie Smith, Sophia Landell-Wright, Austen Worth, Valeria Fiaccadori, Ian Proctor, Shoba Amarnath, Ben Carpenter, Arian LaurenceCytotoxic 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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