ArticleBioMed research international2018
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Article in BioMed research international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.Journal of clinical immunology · 2019Pooled it
- Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.Journal of clinical immunology · 2024Article
- Current genetic diagnostics in inborn errors of immunity.Frontiers in pediatrics · 2024Review
- [Principles of the diagnostics of inborn errors of immunity].Zeitschrift fur Rheumatologie · 2023Review
- Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.Frontiers in immunology · 2022Article
- Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives.Clinical reviews in allergy & immunology · 2021Review
- Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.Genes · 2021Article
- The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).Scientific reports · 2021Article
- Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.Immunologic research · 2020Observational
- Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing.Pediatric allergy, immunology, and pulmonology · 2020Observational
- Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.Allergy, asthma & immunology research · 2020Article
- Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.Frontiers in immunology · 2019Article
- Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.Frontiers in immunology · 2019Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionPrimary immune deficiency disorders (PIDs) are a group of diseases with profound defects in immune cells. The traditional diagnostics have evolved from clinical evaluation, flow cytometry, western blotting, and Sanger sequencing to focusing on small groups of genes. However, this is not sufficient to confirm the suspicion of certain PIDs. Our innovative approach to diagnostics outlines the algorithm for PIDs and the clinical utility of immunophenotyping with a custom-designed multigene panel. MATERIALS AND
methodsWe have designed a diagnostic algorithm based on flow cytometry studies to classify the patients; then the selected multigene panel was sequenced. In silico analysis for mutations was carried out using SIFT, Polyphen-2, and MutationTaster. RESULTS AND DISCUSSION: The causative mutation was identified in 46% of PIDs. Based on these results, this new algorithm including immune phenotyping and NGS for PIDs was suggested for the clinical use.
conclusionsThis study provides a thorough validation of diagnostic algorithm and indicates that still the traditional methods can be used to collect significant information related to design of most current diagnostics. The benefits of such testing are for diagnosis and prevention including the prenatal and preimplantation diagnosis, prognosis, treatment, and research.
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