Article

Distinct EBV-Associated Phenotypes Due to a Novel Homozygous Missense Variant in <i>CD27</i>

2026-01-15

Abstract excerpt

<h4>ABSTRACT</h4> Biallelic deficiencies of CD27 and its ligand CD70 underlie selective susceptibility to Epstein-Barr virus (EBV) infection and its acute and chronic complications, underscoring their non-redundant roles in anti-EBV immunity. To date, 16 pathogenic CD27 variants have been reported. Here, we describe three patients from two unrelated families, homozygous for a novel loss-of-function (LOF) CD27 v...

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Literature Corpus work: 5ec5a671-122d-531a-a4ea-a5606a0dca68
DOI: 10.64898/2026.01.15.698722

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