{"doi":"10.3389/fped.2019.00373","title":"Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)","abstract":null,"journal":"Frontiers in Pediatrics","year":2019,"id":623737,"datarank":4.888830389010372,"base_score":4.51085950651685,"endowment":4.51085950651685,"self_citation_contribution":0.6766289259775276,"citation_network_contribution":4.212201463032844,"self_endowment_contribution":0.6766289259775276,"citer_contribution":4.212201463032844,"corpus_percentile":null,"corpus_rank":null,"citation_count":90,"citer_count":81,"citers_with_citation_signal":73,"citers_with_endowment":73,"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":618906,"name":"Nizar Mahlaoui","orcid":"0000-0002-0030-8094","position":1,"is_corresponding":false},{"id":1612113,"name":"Hubert Bobby Gaspar","orcid":null,"position":2,"is_corresponding":false},{"id":1612114,"name":"Sung-Yun Pai","orcid":null,"position":3,"is_corresponding":false},{"id":400338,"name":"Mirjam van der Burg","orcid":"0000-0002-1510-3104","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)","abstract":"Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with allogeneic hematopoietic stem cell transplantation. Universal newborn screening for SCID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States. In this review, we discuss the development and outcomes of TREC screening, and continued challenges to implementation.","is_dataset_classified":null,"base_score":4.51085950651685,"endowment":4.51085950651685,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"31620409","pmcid":"PMC6759820","openalex_id":"https://openalex.org/W2970334679","authors":[],"funders":[],"total_grants":0,"fwci":4.3411,"citation_percentile":0.95630646,"influential_citations":0,"citation_trend":[{"year":2020,"count":21},{"year":2021,"count":26},{"year":2022,"count":10},{"year":2023,"count":10},{"year":2024,"count":9},{"year":2025,"count":9},{"year":2026,"count":5}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.frontiersin.org/articles/10.3389/fped.2019.00373/pdf","host_type":"journal"},{"url":"https://www.frontiersin.org/articles/10.3389/fped.2019.00373/pdf","host_type":"publisher"},{"url":"https://www.frontiersin.org/article/10.3389/fped.2019.00373/full","host_type":"publisher"},{"url":"https://doi.org/10.3389/fped.2019.00373","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/31620409","host_type":"repository"},{"url":"http://hdl.handle.net/1887/120446","host_type":"repository"},{"url":"https://doaj.org/article/868e507361cf4f5db37f59f78c9addc7","host_type":"repository"},{"url":"https://discovery.ucl.ac.uk/id/eprint/10083048/","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6759820","host_type":"repository"},{"url":"https://hdl.handle.net/1887/120446","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC6759820","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC6759820?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Immunodeficiency and Autoimmune Disorders","Blood disorders and treatments","Cytomegalovirus and herpesvirus research"],"mesh_terms":[],"keywords":["Severe combined immunodeficiency","Newborn screening","Medicine","Hematopoietic stem cell transplantation","Primary immunodeficiency","Immunodeficiency","Referral","Pediatrics","Hematopoietic cell","Isolation (microbiology)","Transplantation","Dried blood","Stem cell","Immunology","Haematopoiesis","Internal medicine","Bioinformatics","Immune system","Family medicine","T lymphocytes","Allogeneic hematopoietic stem cell transplantation","Public Health"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"nct"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-04T01:10:23.846453Z","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":[]}