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

Sözeri B., Demir F., Sönmez H. E., Karadağ Ş., Demirkol Y., Doğan Ö., ...Daha Fazla

Clinical rheumatology, cilt.40, ss.2327-2337, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 40
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1007/s10067-020-05492-8
  • Dergi Adı: Clinical rheumatology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.2327-2337
  • Anahtar Kelimeler: Cryopyrin-associated periodic fever syndrome, Mevalonate kinase deficiency, Next-generation sequencing, Systemic autoinflammatory diseases, Tumor necrosis factor-alpha receptor-associated periodic fever syndrome, PERIODIC FEVER, GUIDELINES, CHILDREN, PROFILE
  • Kocaeli Üniversitesi Adresli: Evet

Özet

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.