A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

Aeschlimann, Florence; Batu, Ezgi; CANNA, Scott; GO, Ellen; Gül, AHMET; HOFFMANN, Patrycja; Leavis, Helen; ÖZEN, SEZA; SCHWARTZ, Daniella; STONE, Deborah; van Royen-Kerkof, Annet; KASTNER, Daniel; AKSENTIJEVICH, Ivona; Laxer, Ronald

doi:10.1136/annrheumdis-2017-212403

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

Aeschlimann F. A., Batu E. D., CANNA S. W., GO E., Gül A., HOFFMANN P., ...Daha Fazla

ANNALS OF THE RHEUMATIC DISEASES, cilt.77, sa.5, ss.728-735, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 77 Sayı: 5
Basım Tarihi: 2018
Doi Numarası: 10.1136/annrheumdis-2017-212403
Dergi Adı: ANNALS OF THE RHEUMATIC DISEASES
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.728-735
İstanbul Üniversitesi Adresli: Evet

Özet

Objectives The association between mutations in TNFAIP3, encoding the NF-kB regulatory protein A20, and a new autoinflammatory disease has recently been recognised. This study aims at describing the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20).