Inflammation and transcriptional responses of peripheral blood mononuclear cells in classic ataxia telangiectasia.

ABSTRACT:

Introduction

Classic ataxia telangiectasia (A-T) is an autosomal recessive disease characterized by early onset ataxia, immune deficiency, sino-pulmonary disease, lymphoid/solid malignancies and telangiectasias. Prior studies have suggested that chronic inflammation and premature aging may contribute to the development of malignancy and pulmonary disease in people with A-T. To further examine the link between A-T and inflammation, we hypothesized that subjects with classic A-T would have greater enrichment of inflammatory pathways in peripheral blood mononuclear cells (PBMCs) compared to non A-T age-matched controls. To test this hypothesis we used RNAseq as an unsupervised approach to identify biological processes altered in people with classic A-T.

Methods

PBMCs were isola

SUBMITTER: McGrath-Morrow SA 

PROVIDER: S-EPMC6306200 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature