ArticleClinical rheumatology2020
Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases.
Article in Clinical rheumatology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Undifferentiated autoinflammatory diseases: a systematic review.World journal of pediatrics : WJP · 2026Pooled it
- Recent variant discoveries and emerging genetic mechanisms in autoinflammatory diseases.Frontiers in immunology · 2026Review
- Syndrome of undifferentiated recurrent fever (SURF): a multicenter real-world experience from Türkiye.Clinical rheumatology · 2025Observational
- Predictive factors for therapeutic response and cluster analysis in syndrome of undifferentiated recurrent fever (SURF).RMD open · 2025Article
- Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation.Pediatric rheumatology online journal · 2024Article
- The expanding clinical spectrum of autoinflammatory diseases withFrontiers in immunology · 2024Review
- The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort.Clinical rheumatology · 2023Article
- Systematic genetic analysis of pediatric patients with autoinflammatory diseases.Frontiers in genetics · 2023Article
- Efficacy of anakinra treatment in pediatric rheumatic diseases: Our single-center experience.Archives of rheumatology · 2022Article
- Article
- Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.Clinical rheumatology · 2021Article
- Syndrome of Undifferentiated Recurrent Fever (SURF): An Emerging Group of Autoinflammatory Recurrent Fevers.Journal of clinical medicine · 2021Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveSystemic autoinflammatory diseases (SAIDs) may not always present with typical clinical findings of a monogenic disease. We aimed to genetically screen and diagnose these clinically unclassified patients by next-generation sequencing (NGS) analysis.
methodA total of 64 patients who had clinical findings of a periodic fever syndrome but did not meet the clinical diagnostic criteria for any SAID or had clinical findings for more than one monogenic SAID were identified as "clinically unclassified SAIDs." NGS panel analysis, including 16 genes, was performed in these patients. Patients, who could not be classified as one of the defined SAID after the result of the NGS gene analysis, were identified as "undefined SAID."
resultsThe most common autoinflammatory symptoms in unclassified SAID patients were abdominal pain (60.9%), arthralgia (48.4%), urticarial rash (43.8%), myalgia (40.6%), oral aphthae (28.1%), and conjunctivitis (20.3%), respectively. In the result of the NGS gene panel screening, pathogenic, likely pathogenic variants, or VUS (variants of uncertain significance) were detected in 36 of 64 patients in at least one gene in the NGS panel. A total of 15 patients were diagnosed with a monogenic SAID according to both phenotypic and genotypic data; 12 patients as FMF, two patients as FCAS, and one patient as TRAPS, respectively. A total of 49 patients who did not meet the classification criteria including genetic results for a monogenic SAID were followed as undefined SAID.
conclusionsThe classification criteria described for SAIDs so far unfortunately do not cover all patients with signs of periodic fevers. The NGS gene panel appears to be a useful diagnostic tool for some of the patients with clinically unclassified SAID findings. Key Points • The classification criteria described for SAIDs do not cover all patients with signs of periodic fevers • The use of the undefined SAID nomenclature will benefit clinicians for diagnosis and initiating early treatment • The NGS panel appears to be a useful diagnostic tool in patients with clinically unclassified SAIDs.
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