ACR Meeting Abstracts
Abstract Number: 2276 • ACR/ARHP Annual Meeting 2018
Patrycja M. Hoffmann1, Amanda Ombrello1, Deborah L. Stone2, Dean Follmann3, Karyl Barron4, Anne Jones5, Tina Romeo1, Camilo Toro6, Ariane Soldatos7, Arielle Hay8, Qing Zhou9, Ivona Aksentijevich10 and Daniel L. Kastner5, 1NHGRI, National Institutes of Health, Bethesda, MD, 2Inflammatory Disease Section, NHGRI/NIH, Bethesda, MD, 3NIAID, Bethesda, MD, 4National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 5Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 6NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 7NINDS, National Institutes of Health, Bethesda, MD, 8Nicklaus Children’s Hospital, Miami, FL, 9China, 10Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive condition characterized by recurrent fevers, early-onset ischemic strokes, livedo racemosa, polyarteritis nodosa, portal hypertension,…