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., et al.

ANNALS OF THE RHEUMATIC DISEASES, cilt.77, ss.728-735, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 77 Konu: 5
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1136/annrheumdis-2017-212403
  • Dergi Adı: ANNALS OF THE RHEUMATIC DISEASES
  • Sayfa Sayısı: ss.728-735

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).