ArticleGenome medicine2019
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Article in Genome medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 3 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 3 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- Overview of next-generation sequencing to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review.Frontiers in immunology · 2026Pooled it
- Diagnostic yield of next-generation sequencing in suspect primary immunodeficiencies diseases: a systematic review and meta-analysis.Clinical and experimental medicine · 2024Pooled it
- The clinical utility of exome and genome sequencing across clinical indications: a systematic review.Human genetics · 2021Pooled it
- A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.Clinical and experimental immunology · 2021Trial
- Diagnostic yield and clinical impact of genetic testing in inborn errors of immunity: lessons from a large Turkish cohort.European journal of pediatrics · 2026Article
- A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity.Frontiers in immunology · 2026Article
- Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency.Journal of human immunity · 2025Article
- Article
- Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.Scientific reports · 2025Article
- Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.Frontiers in immunology · 2025Article
- Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.Frontiers in immunology · 2025Article
- A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.Journal of clinical immunology · 2024Article
- Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas.Journal of neuro-oncology · 2024Article
- Current genetic diagnostics in inborn errors of immunity.Frontiers in pediatrics · 2024Review
- Can long-read sequencing tackle the barriers, which the next-generation could not? A review.Pathology oncology research : POR · 2024Review
- OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.Journal of clinical immunology · 2023Article
- Genetic screening in a Brazilian cohort with inborn errors of immunity.BMC genomic data · 2023Article
- Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.Human genomics · 2023Article
- Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2023Article
- Molecular mechanisms augmenting resistance to current therapies in clinics among cervical cancer patients.Medical oncology (Northwood, London, England) · 2023Review
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Authors and funding
52 authors at 12 institutions in 7 countries.
Funding
Abstract
backgroundDiagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test.
methodsIn May 2013, we implemented exome sequencing in routine diagnostics for patients suffering from PIDs. This study reports the clinical utility and diagnostic yield for a heterogeneous group of 254 consecutively referred PID patients from 249 families. For the majority of patients, the clinical diagnosis was based on clinical criteria including rare and/or unusual severe bacterial, viral, or fungal infections, sometimes accompanied by autoimmune manifestations. Functional immune defects were interpreted in the context of aberrant immune cell populations, aberrant antibody levels, or combinations of these factors.
resultsFor 62 patients (24%), exome sequencing identified pathogenic variants in well-established PID genes. An exome-wide analysis diagnosed 10 additional patients (4%), providing diagnoses for 72 patients (28%) from 68 families altogether. The genetic diagnosis directly indicated novel treatment options for 25 patients that received a diagnosis (34%).
conclusionExome sequencing as a first-tier test for PIDs granted a diagnosis for 28% of patients. Importantly, molecularly defined diagnoses indicated altered therapeutic options in 34% of cases. In addition, exome sequencing harbors advantages over gene panels as a truly generic test for all genetic diseases, including in silico extension of existing gene lists and re-analysis of existing data.
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