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

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 relevant case resulting from TNFRSF9 heterozygous mutations has been identified.

Methods

Here, we report the first case of CD137 deficiency caused by two novel biallelic heterozygous TNFRSF9 mutations [NM_001561.5: c.208 + 1->AT and c.452C>A (p.T151K)] in a patient presenting with severe EBV⁺ LPD. Immunophenotyping and in

SUBMITTER: Shen K 

PROVIDER: S-EPMC10153300 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature