ReviewFrontiers in immunology2017
Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.
Review in Frontiers in immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 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
42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 94 citations in OpenAlex.
- Diagnostic yield of next-generation sequencing in suspect primary immunodeficiencies diseases: a systematic review and meta-analysis.Clinical and experimental medicine · 2024Pooled it
- Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.Journal of clinical immunology · 2019Pooled it
- Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity.Clinical and experimental immunology · 2026Article
- Clinical spectrum and survival outcomes of malignancies in pediatric patients with inborn errors of immunity.Frontiers in immunology · 2026Article
- A novelFrontiers in genetics · 2025Article
- A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.Immunogenetics · 2024Article
- Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.Immunologic research · 2024Article
- Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.Journal of clinical immunology · 2024Article
- Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.Clinical case reports · 2024Article
- Rare Biallelic Variants Affecting the Interdomain B Region of Zeta-Chain Associated Protein Kinase 70 (ZAP70) Protein in a Sudanese Patient: Case Report.International medical case reports journal · 2024Article
- The Role of Genetics in the Management of Heart Failure Patients.International journal of molecular sciences · 2023Review
- Gastrointestinal manifestations in children with primary immune deficiencies: A case series.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2022Article
- Leveraging Systems Immunology to Optimize Diagnosis and Treatment of Inborn Errors of Immunity.Frontiers in systems biology · 2022Article
- Comparison of [Frontiers in pediatrics · 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
- Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancy.Immunologic research · 2021Article
- Exome sequencing in paediatric patients with movement disorders.Orphanet journal of rare diseases · 2021Article
- Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.Frontiers in immunology · 2021Article
- Detection of somaticHeliyon · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Primary immunodeficiencies (PIDs) are genetic disorders impairing host immunity, leading to life-threatening infections, autoimmunity, and/or malignancies. Genomic technologies have been critical for expediting the discovery of novel genetic defects underlying PIDs, expanding our knowledge of the complex clinical phenotypes associated with PIDs, and in shifting paradigms of PID pathogenesis. Once considered Mendelian, monogenic, and completely penetrant disorders, genomic studies have redefined PIDs as a heterogeneous group of diseases found in the global population that may arise through multigenic defects, non-germline transmission, and with variable penetrance. This review examines the uses of next-generation DNA sequencing (NGS) in the diagnosis of PIDs. While whole genome sequencing identifies variants throughout the genome, whole exome sequencing sequences only the protein-coding regions within a genome, and targeted gene panels sequence only a specific cohort of genes. The advantages and limitations of each sequencing approach are compared. The complexities of variant interpretation and variant validation remain the major challenge in wide-spread implementation of these technologies. Lastly, the roles of NGS in newborn screening and precision therapeutics for individuals with PID are also addressed.
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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.