- •Increasing gene panels lead to incrementation of the diagnostic rate.
- •Mendeliome sequencing represents a feasible technological advance in AID genetic testing, whether its implementation is feasible in everyday practice is open to debate.
- •Clinical parameters that increased the diagnostic rate were Mediterranean ethnicity, cardiorespiratory and abdominal symptoms and a consistent family history.
- •Requesting a genetic test for a fever of unknown origin, amyloidosis workup or isolated recurrent pericarditis should not be encouraged.
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- Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.Cell. 1999; 97: 133-144
- Current and future advances in genetic testing in systemic autoinflammatory diseases.Rheumatology. 2019; 58: 44-55
- Monogenic autoinflammatory disorders: beyond the periodic fever.Int Med J. 2020; 50: 151-164
- The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders.Clin Sci. 2018; 132: 1901-1924
- Update on the genetics of autoinflammatory disorders.Curr Allergy Asthma Rep. 2019; 19: 41
- New workflow for the classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the international study group for systemic autoinflammatory diseases (INSAID).J Med Genet. 2018; 55: 5307
- ISSAID/EMQN best practice guidelines for the genetic diagnosis of monogenic autoinflammatory diseases in the next-generation sequencing era.Clin Chem. 2020; 66: 525-536
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology.Genet Med. 2015; 17: 405-424
- Familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseases.Curr Opin Rheumatol. 2012; 24: 103-112
- The autoinflammatory syndromes.Curr Opin Allergy Clin Immunol. 2002; 2: 511-516
- Clinical impact of a targeted NGS gene panel for autoinflammation and vasculitis.PLoS One. 2017; 12e0181874
- Positive impact of expert reference center validation on performance of next-generation sequencing for genetic diagnosis of autoinflammatory disease.J Clin Med. 2019; 8: 1729
- Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.Rheumatol Int. 2019; 39: 911-919
- NGS for the diagnosis of autoinflammatory diseases: the experience of Montpellier.Pediatr Rheumatol. 2015; 13: O17
- Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands.Pediatr Rheumatol. 2015; 13: P51
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.Lancet. 2015; 385: 1305-1314
- For the STARD group. STARD 2015: an updated list of essential items for reporting diagnostic accuracy studies.BMJ. 2015; 351: h5527
- Single center experience in next generation sequencing for the genetic diagnosis of autoinflammatory disorders (AIDs).Pediatr Rheumatol. 2015; 13: P52
- Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.Clin Exp Immunol. 2021; 203: 105-114
- Classification criteria for autoinflammatory recurrent fevers.Ann Rheum Dis. 2019; 78: 1025-1032
- Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.Clin Rheumatol. 2021; 40: 2327-2337