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., AKGÜN DOĞAN Ö., ...Daha Fazla

CLINICAL RHEUMATOLOGY, cilt.40, sa.6, ss.2327-2337, 2021 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 40 Sayı: 6
  • 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
  • Acıbadem Mehmet Ali Aydınlar 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.