Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases

Sozeri B., Demir F., SÖNMEZ H. E. , Karadag S. G. , Demirkol Y. K. , Dogan Ö. , ...More

CLINICAL RHEUMATOLOGY, vol.40, no.6, pp.2327-2337, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 40 Issue: 6
  • Publication Date: 2021
  • Doi Number: 10.1007/s10067-020-05492-8
  • Title of Journal : CLINICAL RHEUMATOLOGY
  • Page Numbers: pp.2327-2337


Introduction/objectives The clinicians initially prefer to define patients with the systemic autoinflammatory disease (SAID)'s based on recommended clinical classification criteria; then, they confirm the diagnosis with genetic testing. We aimed to compare the initial phenotypic diagnoses of the patients who were followed up with the preliminary diagnosis of a monogenic SAID, and the genotypic results obtained from the next-generation sequence (NGS) panel.