Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

ABSTRACT:

Purpose

The Nijmegen breakage syndrome (NBS) is an inherited genetic disorder characterized by a typical facial appearance, microcephaly, growth retardation, immunodeficiency, and a strong predisposition to malignancies, especially of lymphoid origin. NBS patients have a mutation in the NBN gene which involves the repair of DNA double-strand breaks (DSBs). Here we studied the peripheral T cell compartment of NBS patients with a focus on immunological senescence.

Methods

The absolute numbers and frequencies of the different T cell subsets were determined in NBS patients from young age till adulthood and compared to age-matched healthy individuals (HI). In addition, we determined the expression of senescent T cell markers and the signal joint T cell receptor excision circles (

SUBMITTER: Meijers RWJ 

PROVIDER: S-EPMC5325864 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature