ACR Meeting Abstracts

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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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