Abstracts tagged "pediatric rheumatology and ulcers"

Abstract Number: 1892 • 2017 ACR/ARHP Annual Meeting
A20 Haploinsufficiency: Clinical Phenotypes and Disease Course of Patients with This Newly Recognized Autoinflammatory Disease
Florence A. Aeschlimann¹, Ezgi Deniz Batu², Ellen Go³, Ahmet Gül⁴, Patrycja M. Hoffmann⁵, Helen L. Leavis⁶, Seza Ozen⁷, Annet van Royen-Kerkof⁶, Daniella Schwartz⁸, Deborah L. Stone⁹, Ivona Aksentijevich¹⁰, Daniel L. Kastner¹¹ and Ronald Laxer¹, ¹Rheumatology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ²Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ³Pediatrics, Indiana University School of Medicine, Indianapolis, IN, ⁴Department of Internal Medicine, Division of Rheumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ⁵Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ⁶Pediatric Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ⁷Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ⁸NIAMS - Rheumatology, National Institutes of Health, Bethesda, MD, ⁹Inflammatory Disease Section, NHGRI/NIH, Bethesda, MD, ¹⁰National Human Genome Research Institute, National Institutes of Health, Inflammatory Disease Section, Bethesda, MD, ¹¹Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
Background/Purpose: Haploinsufficiency of A20 (HA20) is a newly discovered autoinflammatory disease caused by mutations in TNFAIP3. A20 is a protein with a crucial role in…

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