Genetic susceptibility to EBV infection: insights from inborn errors of immunity

Human Genetics
Stuart G Tangye

Abstract

Epstein-Barr virus (EBV) is a ubiquitous human pathogen, infecting > 90% of the adult population. In the vast majority of healthy individuals, infection with EBV runs a relatively benign course. However, EBV is by no means a benign pathogen. Indeed, apart from being associated with at least seven different types of malignancies, EBV infection can cause severe and often fatal diseases-hemophagocytic lymphohistiocytosis, lymphoproliferative disease, B-cell lymphoma-in rare individuals with specific monogenic inborn errors of immunity. The discovery and detailed investigation of inborn errors of immunity characterized by heightened susceptibility to, or increased frequency of, EBV-induced disease have elegantly revealed cell types and signaling pathways that play critical and non-redundant roles in host-defense against EBV. These analyses have revealed not only mechanisms underlying EBV-induced disease in rare genetic conditions, but also identified molecules and pathways that could be targeted to treat severe EBV infection and pathological consequences in immunodeficient hosts, or even potentially enhance the efficacy of an EBV-specific vaccine.

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Citations

Jul 6, 2020·Journal of Clinical Immunology·Khusan KhodzhaevMuge Sayitoglu
Jan 29, 2021·Journal of Cellular Physiology·Arghavan ZebardastFarzin Sadeghi
Feb 9, 2021·The Journal of Allergy and Clinical Immunology. in Practice·Roshini S Abraham, Manish J Butte
Feb 9, 2021·The Journal of Allergy and Clinical Immunology. in Practice·Elana R Shaw, Helen C Su
Apr 4, 2021·Diagnostics·Francesco RispoliAlberto Tommasini
Aug 8, 2021·Current Opinion in Immunology·Vivien Béziat, Emmanuelle Jouanguy

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Methods Mentioned

BETA
Glycosylation
nucleotide exchange

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