Abstract Number: 2096 • ACR/ARHP Annual Meeting 2015
Immune Dysregulation in Patients with TRNT1 Deficiency
Angeliki Giannelou1, Qing Zhou2, Hong-Wei Sun3, Dan Yang4, Susan Moir5, Jehad H. Edwan3, Wanxia L. Tsai3, Elisavet Serti6, Monique Stoffels2, Deborah L. Stone7, Amanda K. Ombrello7, Karyl Barron5, Helen C. Su5, Abdullah Al Sonbul8, Sarita Joshi9, Kimberly Risma10, Lucie Sramkova11, Martha M. Quezado12, Katherine Calvo13, Abu-Asab Mones14, Gustavo Gutierrez-Cruz3, Massimo G. Gadina3, Markus Hafner3, Ivona Aksentijevich2,15 and Daniel Kastner2, 1National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 2NIH/NHGRI, Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch, Bethesda, MD, 3National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 4National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, 5National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 6Immunology Section, Liver Diseases Branch, NIDDK, NIH, Bethesda, MD, 7National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 8King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia, 9Nationwide Children's Hospital, Columbus, OH, 10Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 11Charles University 2nd Faculty of Medicine and UH Motol, Prague, Czech Republic, 12Laboratory of Pathology/National Cancer Institute, National Institutes of Health, Bethesda, MD, 13Department of Laboratory Medicine, National Institutes of Health, Bethesda, MD, 14National Eye Institute, National Institutes of Health, Bethesda, MD, 15Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD
Background/Purpose: Next generation sequencing has led to the discovery of new diseases and molecules regulating immune function. Hypomorphic mutations in the TRNT1 gene cause a…
