ArticleThe Journal of allergy and clinical immunology2013
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.
Article in The Journal of allergy and clinical immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 3 of them syntheses that pooled it.
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Who cites it
102 citing papers in PubMed, 3 syntheses or guidelines pooled it, 211 citations in OpenAlex.
- Newborn screening for severe combined immunodeficiency in the NHS newborn blood spot screening programme: a systematic review.Health technology assessment (Winchester, England) · 2026Pooled it
- Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.The Journal of allergy and clinical immunology · 2022Pooled it
- TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.Journal of clinical immunology · 2015Pooled it
- Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects.The Journal of allergy and clinical immunology · 2019Trial
- Interpreting abnormal severe combined immunodeficiency (SCID) newborn screens: Perinatal predictors and clinical implications.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2026Article
- Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants inJournal of human immunity · 2026Article
- First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.Frontiers in immunology · 2026Article
- Sociodemographic drivers of care disparity among patients with inborn errors of immunity.Current opinion in pediatrics · 2025Review
- 13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.International journal of molecular sciences · 2025Article
- Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort.Journal of clinical laboratory analysis · 2025Article
- Diagnostic disparities in inborn errors of immunity: From clinical suspicion to diagnosis.The journal of allergy and clinical immunology. Global · 2025Article
- Disparities in Genetic Testing for Inborn Errors of Immunity.The journal of allergy and clinical immunology. In practice · 2025Article
- Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia.Frontiers in immunology · 2025Article
- Sphingosine phosphate lyase insufficiency syndrome as a primary immunodeficiency state.Advances in biological regulation · 2024Review
- Article
- Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease.Journal of clinical immunology · 2024Article
- Racial and ethnic disparities in early mortality among patients with inborn errors of immunity.The Journal of allergy and clinical immunology · 2024Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.The Journal of allergy and clinical immunology · 2023Article
- Personalized hematopoietic stem cell transplantation for inborn errors of immunity.Frontiers in immunology · 2023Review
42 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 1 country.
Funding
Abstract
backgroundAssay of T-cell receptor excision circles (TRECs) in dried blood spots obtained at birth permits population-based newborn screening (NBS) for severe combined immunodeficiency (SCID).
objectiveWe sought to report the first 2 years of TREC NBS in California.
methodsSince August 2010, California has conducted SCID NBS. A high-throughput TREC quantitative PCR assay with DNA isolated from routine dried blood spots was developed. Samples with initial low TREC numbers had repeat DNA isolation with quantitative PCR for TRECs and a genomic control, and immunophenotyping was performed within the screening program for infants with incomplete or abnormal results. Outcomes were tracked.
resultsOf 993,724 infants screened, 50 (1/19,900 [0.005%]) had significant T-cell lymphopenia. Fifteen (1/66,250) required hematopoietic cell or thymus transplantation or gene therapy; these infants had typical SCID (n = 11), leaky SCID or Omenn syndrome (n = 3), or complete DiGeorge syndrome (n = 1). Survival to date in this group is 93%. Other T-cell lymphopenic infants had variant SCID or combined immunodeficiency (n = 6), genetic syndromes associated with T-cell impairment (n = 12), secondary T-cell lymphopenia (n = 9), or preterm birth (n = 8). All T-cell lymphopenic infants avoided live vaccines and received appropriate interventions to prevent infections. TREC test specificity was excellent: only 0.08% of infants required a second test, and 0.016% required lymphocyte phenotyping by using flow cytometry.
conclusionsTREC NBS in California has achieved early diagnosis of SCID and other conditions with T-cell lymphopenia, facilitating management and optimizing outcomes. Furthermore, NBS has revealed the incidence, causes, and follow-up of T-cell lymphopenia in a large diverse population.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.