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-MorrowPublished 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.