Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.

ABSTRACT:

Background

The tumor TNF receptor family member 4-1BB (CD137) is encoded by TNFRSF9 and expressed on activated T cells. 4-1BB provides a costimulatory signal that enhances CD8⁺ T-cell survival, cytotoxicity, and mitochondrial activity, thereby promoting immunity against viruses and tumors. The ligand for 4-1BB is expressed on antigen-presenting cells and EBV-transformed B cells.

Objective

We investigated the genetic basis of recurrent sinopulmonary infections, persistent EBV viremia, and EBV-induced lymphoproliferation in 2 unrelated patients.

Methods

Whole-exome sequencing, immunoblotting, immunophenotyping, and in vitro assays of lymphocyte and mitochondrial function were performed.

Results

The 2 patients shared a homozygous G109S missense mutation

SUBMITTER: Alosaimi MF 

PROVIDER: S-EPMC6688916 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature