NLRP3 gene variants and serum NLRP3 levels in periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome


Kaynak D., Yıldız M., Sahin S., Haslak F., Gunalp A., Adrovic A., ...More

CLINICAL RHEUMATOLOGY, vol.42, no.1, pp.245-251, 2023 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 1
  • Publication Date: 2023
  • Doi Number: 10.1007/s10067-022-06370-1
  • Journal Name: CLINICAL RHEUMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.245-251
  • Keywords: NLRP3 gene variants, NLRP3 serum levels, PFAPA syndrome, FAMILIAL MEDITERRANEAN FEVER, RHEUMATOID-ARTHRITIS, AUTOINFLAMMATORY DISEASES, INFLAMMASOME GENES, ACTIVATION, DIAGNOSIS, DISORDER
  • Istanbul University Affiliated: Yes

Abstract

Objectives Although most of the autoinfammatory disorders have a confirmed genetic cause, periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome still has an unknown genetic background. However, familial cases of PFAPA syndrome have been reported suggesting a genetic its basis. PFAPA syndrome may also be considered an infammasome disorder as variants in infammasome-associated genes such as CARD8, NLRP3, and MEFV have been reported to contribute to the disease.