Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry

LEVY, R.; GERARD, L.; KUEMMERLE-DESCHNER, J.; Lachmann, H.; KONE-PAUT, I.; CANTARINI, L.; Woo, P.; NASELLI, A.; BADER-MEUNIER, B.; INSALACO, A.; AI-MAYOUTL, S.; ÖZEN, SEZA; Hofer, M.; Frenkel, J.; MODESTO, C.; NIKISHINA, I.; SCHWARZ, T.; MARTINO, S.; MEINI, A.; QUARTIER, P.; MARTINI, A.; RUPERTO, N.; NEVEN, B.; GATTORNO, M.

doi:10.1136/annrheumdis-2013-204991

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry

LEVY R., GERARD L., KUEMMERLE-DESCHNER J., Lachmann H. J., KONE-PAUT I., CANTARINI L., ...Daha Fazla

ANNALS OF THE RHEUMATIC DISEASES, cilt.74, sa.11, ss.2043-2049, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 74 Sayı: 11
Basım Tarihi: 2015
Doi Numarası: 10.1136/annrheumdis-2013-204991
Dergi Adı: ANNALS OF THE RHEUMATIC DISEASES
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.2043-2049
Hacettepe Üniversitesi Adresli: Evet

Özet

Objective To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry, with a focus on genotype-phenotype correlations and predictive disease severity markers.