ReviewJournal of clinical immunology2018
Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.
Review in Journal of clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 132 citations in OpenAlex.
- Dietary intakes and nutritional issues in inborn errors of immunity: a systematic review.Frontiers in immunology · 2024Pooled it
- Crohn's-like Enteritis in X-Linked Agammaglobulinemia: A Case Series and Systematic Review.The journal of allergy and clinical immunology. In practice · 2021Pooled it
- Transient B cell lymphopenia revealed by KRECs newborn screening: Post-screening referral strategies, clinical course, and follow-up.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026Article
- Integrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems.Human genomics · 2026Article
- A State of the Art Review on the Recalcitrant Candidiasis as a Clue of Inborn Errors of Immunity in Newborns.Journal of immunology research · 2026Review
- Recombination junctions from antibody isotype switching classify immune and DNA repair dysfunction.Nature communications · 2025Article
- Analysis of three cases of disseminated BCG infection in infants after BCG vaccination in Beijing, China.Human vaccines & immunotherapeutics · 2025Article
- Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia.Journal of clinical immunology · 2025Article
- Current status of BCG and OPV vaccination in children with primary immunodeficiency in Chongqing, China.Medicine · 2025Observational
- Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.World journal of pediatrics : WJP · 2024Article
- A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.Journal of clinical immunology · 2024Article
- Protecting children and adults with primary antibody deficiencies against common and emergent pathogens and non-infectious complications.Clinical and experimental immunology · 2024Review
- Newborn screening for inborn errors of immunity: The status worldwide.The World Allergy Organization journal · 2024Article
- The bidirectional association between premenstrual disorders and perinatal depression: A nationwide register-based study from Sweden.PLoS medicine · 2024Article
- X-linked severe combined immunodeficiency complicated by disseminated bacillus Calmette-Guérin disease caused by a novel pathogenic mutation in exon 3 of the IL2RG gene: a case report and literature review.Frontiers in immunology · 2024Review
- Paving the way in implementation of SCID newborn screening in developing nations: feasibility study and strategies to move forward in Malaysia.Frontiers in immunology · 2024Article
- Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process.International journal of neonatal screening · 2023Article
- A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.World journal of pediatrics : WJP · 2023Article
- Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.International journal of neonatal screening · 2023Article
- The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities - proceedings from the IPOPI global multi-stakeholders' summit (June 2022).Frontiers in immunology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious sequelae. Primary immunodeficiency diseases (PID) are a heterogeneous group of inborn errors of immunity. Severe combined immunodeficiency (SCID) is one form of PID which is uniformly fatal without early, definitive therapy, and outcomes are significantly improved if infants are diagnosed and treated within the first few months of life. Screening for SCID using T cell receptor excision circle (TREC) analysis has been introduced in many countries worldwide. The utility of additional screening with kappa recombining excision circles (KREC) has also been described, enabling identification of infants with severe forms of PID manifested by T and B cell lymphopenia. Here, we review the early origins of newborn screening and the evolution of screening methodologies. We discuss current strategies employed in newborn screening programs for PID, including TREC and TREC/KREC-based screening, and consider the potential future role of protein-based assays, targeted sequencing, and next generation sequencing (NGS) technologies, including whole genome sequencing (WGS).
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What OpenQuestion holds
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.