Abstracts tagged "Autoinflammatory Disease and Gene Expression"

Abstract Number: 2096 • 2015 ACR/ARHP Annual Meeting
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 Aksentijevich^2,15 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…

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