{"doi":"10.1016/j.jaip.2023.06.006","title":"Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome","abstract":null,"journal":"The Journal of Allergy and Clinical Immunology: In Practice","year":2023,"id":629389,"datarank":0.24141568686511508,"base_score":1.6094379124341003,"endowment":1.6094379124341003,"self_citation_contribution":0.24141568686511508,"citation_network_contribution":0.0,"self_endowment_contribution":0.24141568686511508,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":4,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1629946,"name":"Jeanette Klein","orcid":null,"position":1,"is_corresponding":false},{"id":696473,"name":"Stephanie Thee","orcid":"0000-0001-9090-7869","position":2,"is_corresponding":false},{"id":1629949,"name":"Jan Ullrich","orcid":null,"position":3,"is_corresponding":false},{"id":1594170,"name":"Volker Wahn","orcid":null,"position":4,"is_corresponding":false},{"id":1045755,"name":"Nadine Unterwalder","orcid":null,"position":5,"is_corresponding":false},{"id":620156,"name":"Uwe Kölsch","orcid":"0000-0001-5052-5049","position":6,"is_corresponding":false},{"id":1629954,"name":"Erwin Lankes","orcid":null,"position":7,"is_corresponding":false},{"id":1283153,"name":"Anna Stittrich","orcid":"0000-0002-0500-0304","position":8,"is_corresponding":false},{"id":1629956,"name":"Cinzia Dedieu","orcid":null,"position":9,"is_corresponding":false},{"id":1629957,"name":"Sarah Dinges","orcid":null,"position":10,"is_corresponding":false},{"id":1210425,"name":"Mirjam Völler","orcid":null,"position":11,"is_corresponding":false},{"id":490851,"name":"Catharina Schuetz","orcid":"0000-0001-8731-8924","position":12,"is_corresponding":false},{"id":1629958,"name":"Johannes Schulte","orcid":null,"position":13,"is_corresponding":false},{"id":1239160,"name":"Kaan Boztug","orcid":null,"position":14,"is_corresponding":false},{"id":764460,"name":"Christian Meisel","orcid":"0000-0003-0222-991X","position":15,"is_corresponding":false},{"id":1629959,"name":"Jörn-Sven Kuehl","orcid":null,"position":16,"is_corresponding":false},{"id":281904,"name":"Renate Krüger","orcid":"0000-0001-8728-9385","position":17,"is_corresponding":false},{"id":1629960,"name":"Oliver Blankenstein","orcid":null,"position":18,"is_corresponding":false},{"id":241324,"name":"Horst von Bernuth","orcid":"0000-0002-5812-7675","position":19,"is_corresponding":false},{"id":1222695,"name":"Olga Staudacher","orcid":"0000-0001-5825-8838","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome","abstract":"<h4>Background</h4>Assessment of T-cell receptor excision circles (TRECs) in dried blood spots of newborns allows the detection of severe combined immunodeficiency (SCID) (T cells <300/μL at birth) with a presumed sensitivity of 100%. TREC screening also identifies patients with selected combined immunodeficiency (CID) (T cells >300/μL, yet <1500/μL at birth). Nevertheless, relevant CIDs that would benefit from early recognition and curative treatment pass undetected.<h4>Objective</h4>We hypothesized that TREC screening at birth cannot identify CIDs that develop with age.<h4>Methods</h4>We analyzed the number of TRECs in dried blood spots in archived Guthrie cards of 22 children who had been born in the Berlin-Brandenburg area between January 2006 and November 2018 and who had undergone hematopoietic stem-cell transplantation (HSCT) for inborn errors of immunity.<h4>Results</h4>All patients with SCID would have been identified by TREC screening, but only 4 of 6 with CID. One of these patients had immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 (ICF2). Two of 3 patients with ICF whom we have been following up at our institution had TREC numbers above the cutoff value suggestive of SCID at birth. Yet all patients with ICF had a severe clinical course that would have justified earlier HSCT.<h4>Conclusions</h4>In ICF, naïve T cells may be present at birth, yet they decline with age. Therefore, TREC screening cannot identify these patients. Early recognition is nevertheless crucial, as patients with ICF benefit from HSCT early in life.","is_dataset_classified":null,"base_score":1.6094379124341003,"endowment":1.6094379124341003,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"37302792","pmcid":null,"openalex_id":"https://openalex.org/W4380201951","authors":[],"funders":[{"funder_name":"CSL Behring","grant_id":"","title":null}],"total_grants":1,"fwci":0.3654,"citation_percentile":0.54070792,"influential_citations":0,"citation_trend":[{"year":2023,"count":1},{"year":2024,"count":2},{"year":2025,"count":1}],"oa_status":"closed","license":"https://www.elsevier.com/legal/tdmrep-license","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S2213219823006499?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S2213219823006499?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.jaip.2023.06.006","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/37302792","host_type":"repository"}],"fields_of_study":["Immunodeficiency and Autoimmune Disorders","Prenatal Screening and Diagnostics","Cytomegalovirus and herpesvirus research","Child","Humans","Infant, Newborn","Receptors, Antigen, T-Cell","Neonatal Screening","T-Lymphocytes","Severe Combined Immunodeficiency","Syndrome"],"mesh_terms":["Child","Humans","Infant, Newborn","Receptors, Antigen, T-Cell","Syndrome","T-Lymphocytes","Neonatal Screening","Severe Combined Immunodeficiency"],"keywords":["Immunodeficiency","Genome instability","Instability","Biology","Genetics","DNA","Physics","Immune system","Icf","Newborn Screening","Trec","Combined Immunodeficiency","Centromeric Instability","Facial Anomalies Syndrome"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-05T18:25:19.056828Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}