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The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort.

Şengül ÇağlayanGizem MardinoğluMurat Hakkı YararKadir UluTaner CoşkunerRamazan Emre YiğitGülcan Özomay BaykalŞeyma TürkmenMustafa CakanFerhat DemirBetul Sozeri
Published in: Clinical rheumatology (2023)
We found the sensitivity of the Eurofever/PRINTO classification criteria to be low as genotypic changes between populations cause phenotypic differences. For this reason, we think that patient-based evaluation is correct rather than standard classification criteria in real life. Key-points • In systemic autoinflammatory diseases, common variants in the populations may alter the phenotype, and making it difficult to classify some patients with the current classification criteria. • In populations with common genetic variants, the classification criteria should be modified according to the clinical phenotype.
Keyphrases
  • deep learning
  • machine learning
  • copy number
  • genetic diversity
  • case report