Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis

Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis

IntroductionThe TNFRSF9 gene encodes the costimulatory receptor CD137, also known as 4-1BB, which plays a critical role in sustaining effective cytotoxic T-cell responses. Variants in the TNFRSF9 gene are associated with an extremely rare autosomal recessive primary immunodeficiency disorder charact...

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Bibliographic Details
Main Authors: Peiwei Zhao, Kailan Chen, Li Yang, Chunhui Wan, Lei Zhang, Sukun Luo, Xuelian He
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Immunology
Subjects:
TNFRSF9
immunodeficiency
lymphoproliferation
EBV viremia
NF-κB
AKT
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1605221/full
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