Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia.

Nigel S MichkiBenjamin D SingerJavier V PerezAaron J ThomasValerie NataleKathryn A HelminJennifer WrightLeon ChengLisa R YoungHoward M LedermanSharon A McGrath-Morrow

Published in: Orphanet journal of rare diseases (2024)

Using a transcriptomic approach, we identified novel features and developed an inflammatory score to identify subsets of individuals with different inflammatory phenotypes in A-T. Findings from this study could be used to help direct treatment and to track treatment response to therapy.

Keyphrases

oxidative stress
single cell
gene expression
genome wide
early onset
dna methylation
rna seq
combination therapy
heat stress