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., ...More

ANNALS OF THE RHEUMATIC DISEASES, vol.77, no.5, pp.728-735, 2018 (SCI-Expanded) identifier identifier identifier

Abstract

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).