ArticleFrontiers in genetics2023
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Recent variant discoveries and emerging genetic mechanisms in autoinflammatory diseases.Frontiers in immunology · 2026Review
- Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.Journal of clinical immunology · 2025Article
- Consanguinity and rare monogenic systemic autoinflammatory disorders: implications for prevalence and genetic variability.Pediatric rheumatology online journal · 2025Observational
- Development and internal validation of a clinical and genetic risk score for rheumatoid arthritis-associated interstitial lung disease.Rheumatology (Oxford, England) · 2025Article
- Exploring the role of NOD2 variants in pediatric undifferentiated recurrent fever: a clinical and functional perspective.Frontiers in immunology · 2025Article
- Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation.Pediatric rheumatology online journal · 2024Article
Corrections and comments
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monogenic autoinflammatory diseases (AID) encompass a growing group of inborn errors of the innate immune system causing unprovoked or exaggerated systemic inflammation. Diagnosis of monogenic AID requires an accurate description of the patients' phenotype, and the identification of highly penetrant genetic variants in single genes is pivotal. We performed whole exome sequencing (WES) of 125 pediatric patients with suspected monogenic AID in a routine genetic diagnostic setting. Datasets were analyzed in a step-wise approach to identify the most feasible diagnostic strategy. First, we analyzed a virtual gene panel including 13 genes associated with known AID and, if no genetic diagnosis was established, we then analyzed a virtual panel including 542 genes published by the International Union of Immunological Societies associated including all known inborn error of immunity (IEI). Subsequently, WES data was analyzed without pre-filtering for known AID/IEI genes. Analyzing 13 genes yielded a definite diagnosis in 16.0% (
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