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

6 Aug 2025

Abstract excerpt

Introduction The 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 characterized by recurrent sinopulmonary infections and EBV-induced lymphoproliferation. Methods We report a case siblings...

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PMID: 40843003
DOI: 10.3389/fimmu.2025.1605221

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