ArticleFrontiers in immunology2020
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.
Article in Frontiers in immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.Journal of clinical immunology · 2024Article
- Proteome profiling of home-sampled dried blood spots reveals proteins of SARS-CoV-2 infections.Communications medicine · 2024Article
- Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.International journal of neonatal screening · 2023Article
- Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm.International journal of neonatal screening · 2023Review
- Future Perspectives of Newborn Screening for Inborn Errors of Immunity.International journal of neonatal screening · 2021Review
- Consensus Middle East and North Africa Registry on Inborn Errors of Immunity.Journal of clinical immunology · 2021Article
- An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity.The Journal of allergy and clinical immunology · 2021Review
- Expanding Horizons in Complement Analysis and Quality Control.Frontiers in immunology · 2021Review
- A Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis.Journal of clinical immunology · 2020Article
Corrections and comments
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Authors and funding
29 authors at 18 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The clinical outcomes of primary immunodeficiencies (PIDs) are greatly improved by accurate diagnosis early in life. However, it is not common to consider PIDs before the manifestation of severe clinical symptoms. Including PIDs in the nation-wide newborn screening programs will potentially improve survival and provide better disease management and preventive care in PID patients. This calls for the detection of disease biomarkers in blood and the use of dried blood spot samples, which is a part of routine newborn screening programs worldwide. Here, we developed a newborn screening method based on multiplex protein profiling for parallel diagnosis of 22 innate immunodeficiencies affecting the complement system and respiratory burst function in phagocytosis. The proposed method uses a small fraction of eluted blood from dried blood spots and is applicable for population-scale performance. The diagnosis method is validated through a retrospective screening of immunodeficient patient samples. This diagnostic approach can pave the way for an earlier, more comprehensive and accurate diagnosis of complement and phagocytic disorders, which ultimately lead to a healthy and active life for the PID patients.
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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.