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Article

CD137 deficiency because of two novel biallelic TNFRSF9 mutations in a patient presenting with severe EBV‐associated lymphoproliferative disease

1 Jan 2023

Abstract excerpt

Abstract Objectives Increasing evidence indicates that some germline genetic mutations that impair pathways required for robust host immune surveillance against EBV infection may result in an extremely high susceptibility to EBV‐associated lymphoproliferative disease (EBV+ LPD). TNFRSF9 encodes a vital costimulatory molecule that enhances CD8+ T‐cell proliferation, survival and cytolytic activity. To date, no...

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PMID: 37144041
DOI: 10.1002/cti2.1448

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