Epstein-Barr Virus in Inborn Immunodeficiency-More Than Infection

Abstract

Epstein-Barr Virus (EBV) is a ubiquitous virus affecting more than 90% of the world's population. Upon infection, it establishes latency in B cells. It is a rather benign virus for immune-competent individuals, in whom infections usually go unnoticed. Nevertheless, EBV has been extensively associated with tumorigenesis. Patients suffering from certain inborn errors of immunity are at high risk of developing malignancies, while infection in the majority of immune-competent individuals does not seem to lead to immune dysregulation. Herein, we discuss how inborn mutations in TNFRSF9, CD27, CD70, CORO1A, CTPS1, ITK, MAGT1, RASGRP1, STK4, CARMIL2, SH2D1A, and XIAP affect the development, differentiation, and function of key factors involved in the immunity against EBV, leading to increased susceptibility to lymphoproliferative disease and lymphoma.

Keywords: EBV; Epstein–Barr Virus; cancer; immunodeficiency; inborn errors of immunity; lymphoma.

Figure 1

T cell and NK cell signaling following EBV-infected cell recognition. Cascade associated with TCR (A), NK activating receptor (B), and co-stimulatory (C) stimulation. Red color describes a gene with mutations associated with EBV.