Characterization of a novel homozygous CTLA4 variant. (PubMed, J Hum Immun) - Oct 23, 2026 - "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."
Journal • CTLA4
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Arda Akchengel; Arian Laurence; Austen Worth; Ben Carpenter; Ian Proctor; Jing Xuan Lim; Katie Smith; Shoba Amarnath; Sophia Landell-Wright; Tegan McTaggart; Valeria Fiaccadori
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