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

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

Abstract 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 (P...

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Bibliographic Details
Main Authors: Sylvia N. Michki, Benjamin D. Singer, Javier V. Perez, Aaron J. Thomas, Valerie Natale, Kathryn A. Helmin, Jennifer Wright, Leon Cheng, Lisa R. Young, Howard M. Lederman, Sharon A. McGrath-Morrow
Format: Article
Language:English
Published: BMC 2024-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Bioinformatics
Genetic diseases
T cells
Online Access:https://doi.org/10.1186/s13023-024-03073-5
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https://doi.org/10.1186/s13023-024-03073-5

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