ArticleClinical & translational immunology2020
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Article in Clinical & translational immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 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
- The Role of Immune Markers in Predicting Infectious Complications in Children with Congenital Heart Defects.Current pediatric reviews · 2026Review
- Severe bronchiectasis and chronic rhinosinusitis due to homozygousRespiratory medicine case reports · 2025Article
- From syndromic clues to diagnosis: understanding CARD11-driven disorders.Frontiers in immunology · 2025Review
- Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.Blood advances · 2024Article
- Genetic screening in a Brazilian cohort with inborn errors of immunity.BMC genomic data · 2023Article
- Inborn errors of immunity in mainland China: the past, present and future.BMJ paediatrics open · 2023Review
- Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.Scientific reports · 2022Article
- Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts.World journal of pediatrics : WJP · 2022Article
- Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022Article
- Trends in Pediatric Primary Immunodeficiency: Incidence, Utilization, Transplantation, and Mortality.The journal of allergy and clinical immunology. In practice · 2022Article
- Modern diagnostic capabilities of neonatal screening for primary immunodeficiencies in newborns.Clinical and experimental pediatrics · 2021Article
- Combining Metagenomic Sequencing With Whole Exome Sequencing to Optimize Clinical Strategies in Neonates With a Suspected Central Nervous System Infection.Frontiers in cellular and infection microbiology · 2021Article
- DisseminatedFrontiers in cellular and infection microbiology · 2021Article
- Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.Genes and immunity · 2020Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe aimed to use next-generation sequencing (NGS) for the early diagnosis of primary immunodeficiency diseases (PIDs) and define its effects on medical management for an infant cohort in early life.
methodsA single-centre study was conducted from November 2015 to April 2018. Infants less than 3 months old with infections or abnormal white blood cell counts were enrolled in the study. Gene variants were analysed by NGS, and once a mutation was found in a PID-associated gene, the immune functions associated with this mutation were detected. The diagnosis rate of PIDs in the cohort was the main outcome. The patients received corresponding management and follow-up treatments.
resultsAmong 2392 patients who were genetically tested with NGS, 51 infants were diagnosed with PIDs. Seven types of PIDs were detected, and the most common (25/51, 49%) were combined immunodeficiencies with associated or syndromic features. Thirty-five patients (68.6%) were cured or had improved outcomes after being diagnosed with PID. The NGS cost was US$280 per case.
conclusionsThis study not only highlighted the potential of NGS to rapidly deliver molecular diagnoses of PIDs but also indicated that the prevalence of PIDs is underestimated. With broader use, this approach has the potential to alter clinical strategies.
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