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

"processed annotated gene expression data generated in this study has been deposited on zenodo (zenodo org/doi/10 5281/zenodo 10210879). data availability scrna-seq gene count data from [ 28 ] were retrieved from the embl-ebi arrayexpress data repository under accession e-mtab-11452"

"Declarations Ethics approval and consent to participateThe work described has been carried out in accordance with The Code of Ethics of the World Medical Association (Declaration of Helsinki) for studies involving humans. Participants were recruited from Johns Hopkins University and the Children’s Hospital of Philadelphia. This study was approved by the institutional review board of the Johns Hopkins Medical Institutions (IRB NA_00014314 and NA_00051764) and the institutional review board of the Children’s Hospital of Philadelphia (IRB 20-017524). Consent for publicationNot applicable. Competing interestsBDS holds United States Patent No. US 10,905,706 B2, “Compositions and Methods to Accelerate Resolution of Acute Lung Inflammation”, and serves on the Scientific Advisory Board of Zoe Biosciences, outside of the submitted work. LRY provides authorship for UpToDate and serves on the pediatric advisory board for Boehringer Ingelheim, outside of the submitted work. Competing interests BDS holds United States Patent No. US 10,905,706 B2, “Compositions and Methods to Accelerate Resolution of Acute Lung Inflammation”, and serves on the Scientific Advisory Board of Zoe Biosciences, outside of the submitted work. LRY provides authorship for UpToDate and serves on the pediatric advisory board for Boehringer Ingelheim, outside of the submitted work."

"Funding This work was supported by the National Institutes of Health (Bethesda, MD, USA) (SAM: R01HL114800, BDS: R01HL149883, R01HL153122, P01HL154998, P01AG049665, and U19AI135964, LRY: K24HL143281), the FDA (Silver Spring, MD, USA) (SAM, HML: R01FD007605), the A-T Children’s Project (Coconut Creek, FL, USA) (SAM), and the Children’s Hospital of Philadelphia Rare Lung Diseases Frontier Program (Philadelphia, PA, USA) (SAM, LRY). The funding sources had no involvement in the writing of the manuscript or the decision to submit."