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Article

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

Orphanet journal of rare diseases - 14 Feb 2024

Michki Sylvia N, Singer Benjamin D, Perez Javier V, Thomas Aaron J, Natale Valerie, Helmin Kathryn A, Wright Jennifer, Cheng Leon, Young Lisa R, Lederman Howard M, McGrath-Morrow Sharon A

Abstract excerpt

INTRODUCTION: Ataxia telangiectasia (A-T) is an autosomal recessive neurodegenerative disease with widespread systemic manifestations and marked variability in clinical phenotypes. In this study, we sought to determine whether transcriptomic profiling of peripheral blood mononuclear cells (PBMCs) defines subsets of individuals with A-T beyond mild and classic phenotypes, enabling identification of novel features...

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Identifiers

PMID: 38360726
DOI: 10.1186/s13023-024-03073-5
PMCID: PMC10870445

Genes

ATM
CD4
FLT4
IL6ST
SERPINE1

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