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

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Aeschlimann F. A., BATU AKAL 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)

• Publication Type: Article / Article
• Volume: 77 Issue: 5
• Publication Date: 2018
• Doi Number: 10.1136/annrheumdis-2017-212403
• Journal Name: ANNALS OF THE RHEUMATIC DISEASES
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.728-735
• Hacettepe University Affiliated: Yes

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).