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

Sozeri, Betul; Demir, Ferhat; SÖNMEZ, HAFİZE; Karadag, Şerife; Demirkol, Yasemin; Dogan, Ozlem; Doganay, Hamdi; Ayaz, Nuray

doi:10.1007/s10067-020-05492-8

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 Ş. G., Demirkol Y. K., Dogan O. A., ...Daha Fazla

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

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
İstanbul 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.