Abstracts tagged "Autoimmunity and genetic disorders"

Abstract Number: 816 • 2014 ACR/ARHP Annual Meeting
TRNT1 Missense Mutations Define a New Periodic Fever Syndrome
Angeliki Giannelou¹, Qing Zhou², Monique Stoffels³, Amanda Ombrello⁴, Deborah Stone², Jehad H. Edwan⁵, Martin Pelletier⁶, Wanxia Tsai⁷, Katherine Calvo⁸, Sergio Rosenzweig⁹, Karyl Barron¹⁰, Massimo Gadina¹¹, Ivona Aksentijevich¹² and Daniel L. Kastner¹³, ¹National Institute for Arthritis and Musculoskeletal and Skin Diseases, bethesda, MD, ²National Human Genome Research Institute, Bethesda, MD, ³National Human Genome Research Institute, bethesda, MD, ⁴Inflammatory Diseases Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁵NIAMS NIH, Bethesda, MD, ⁶Niams, Immunoregulation Section, Autoimmunity Branch, Bethesda, MD, ⁷Translational Immunology Section, NIAMS / NIH, Bethesda, MD, ⁸Department of Laboratory Medicine, Hematology Section, National Institutes of Health Clinical Center, Bethesda, MD, ⁹National Institute of Allergy and Infectious Diseases, Bethesda, MD, ¹⁰NIH, Bethesda, MD, ¹¹NIAMS/NIH, Bethesda, MD, ¹²Inflammatory Diseases Section, National Human Genome Research Institute, Bethesda, MD, ¹³Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD
Background/Purpose Two thirds of the 1700 patients seen at our NIH clinic for autoinflammatory diseases do not have a genetic diagnosis. Whole exome sequencing permits…

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