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

Kaynak, Damla; Yıldız, Mehmet; Sahin, Sezgin; Haslak, Fatih; Gunalp, Aybuke; Adrovic, Amra; Barut, Kenan; Günver, MEHMET; Kasapçopur, Özgür; Daşdemir, SELÇUK

doi:10.1007/s10067-022-06370-1

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., ...Daha Fazla

CLINICAL RHEUMATOLOGY, cilt.42, sa.1, ss.245-251, 2023 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 42 Sayı: 1
Basım Tarihi: 2023
Doi Numarası: 10.1007/s10067-022-06370-1
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.245-251
Anahtar Kelimeler: NLRP3 gene variants, NLRP3 serum levels, PFAPA syndrome, FAMILIAL MEDITERRANEAN FEVER, RHEUMATOID-ARTHRITIS, AUTOINFLAMMATORY DISEASES, INFLAMMASOME GENES, ACTIVATION, DIAGNOSIS, DISORDER
İstanbul Üniversitesi Adresli: Evet

Özet

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.