{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kubala SA"],"funding":["Intramural NIH HHS"],"pagination":["109182"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9756444"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["245"],"pubmed_abstract":["Newborn screening (NBS) for severe combined immunodeficiency (SCID) can identify infants with non-SCID T cell lymphopenia (TCL). The purpose of this study was to characterize the natural history and genetic findings of infants with non-SCID TCL identified on NBS. We analyzed data from 80 infants with non-SCID TCL in the mid-Atlantic region between 2012 and 2019. 66 patients underwent genetic testing and 41 (51%) had identified genetic variant(s). The most common genetic variants were thymic defects (33%), defects with unknown mechanisms (12%) and bone marrow production defects (5%). The genetic cohort had significantly lower median initial CD3+, CD4+, CD8+ and CD4/CD45RA+ T cell counts compared to the non-genetic cohort. Thirty-six (45%) had either viral, bacterial, or fungal infection; on"],"journal":["Clinical immunology (Orlando, Fla.)"],"pubmed_title":["Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen."],"pmcid":["PMC9756444"],"funding_grant_id":["Z99 AI999999"],"pubmed_authors":["Keller MD","Lederman H","Heimall J","Lawrence MG","Anzabi M","Palacios-Kibler T","Younger MEM","Kubala SA","Ford MK","DeFelice ML","Liang H","Sandhu A","Harmon G","Bundy V","Ward B"],"additional_accession":[]},"is_claimable":false,"name":"Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen.","description":"Newborn screening (NBS) for severe combined immunodeficiency (SCID) can identify infants with non-SCID T cell lymphopenia (TCL). The purpose of this study was to characterize the natural history and genetic findings of infants with non-SCID TCL identified on NBS. We analyzed data from 80 infants with non-SCID TCL in the mid-Atlantic region between 2012 and 2019. 66 patients underwent genetic testing and 41 (51%) had identified genetic variant(s). The most common genetic variants were thymic defects (33%), defects with unknown mechanisms (12%) and bone marrow production defects (5%). The genetic cohort had significantly lower median initial CD3+, CD4+, CD8+ and CD4/CD45RA+ T cell counts compared to the non-genetic cohort. Thirty-six (45%) had either viral, bacterial, or fungal infection; on","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2025-04-22T13:12:07.196Z","creation":"2025-04-06T00:35:29.041Z"},"accession":"S-EPMC9756444","cross_references":{"pubmed":["36368643"],"doi":["10.1016/j.clim.2022.109182"]}}