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Abstracts tagged "macrophage activation syndrome and nod-like receptor (NLR)"

  • Abstract Number: 315 • ACR/ARHP Annual Meeting 2014

    NLRC4-Related Macrophage Activation Syndrome (NLRC4-MAS): A Novel Primary Autoinflammatory Syndrome Caused By Activating Mutations in NLRC4

    Scott Canna1, Adriana Almeida de Jesus2, Sushanth Gouni1, Stephen Brooks3, Kristien J. Zaal4, Bernadette Marrero5, Yin Liu6, Michael Dimattia7, Gina A. Montealegre Sanchez6, Hanna Kim6, Dawn C. Chapelle6, Nicole Plass6, Yan Huang6, Angelique Biancotto8, J. Alex Duncan9, Susanne Benseler10, John J. O'Shea1, Alexei A. Grom11, Zuoming Deng12, Ronald Laxer13 and Raphaela Goldbach-Mansky14, 1Molecular Immunology and Inflammation Branch, NIAMS/NIH, Bethesda, MD, 2Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, 3NIAMS/NIH, Bethesda, MD, 4Light Imaging Section, NIAMS/NIH, Bethesda, MD, 5Translational Autoinflammatory Disease Section, NIAMS/NIH, Bethesda, MD, 6Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, 7Laboratory of Structural Biology, NIAMS/NIH, Bethesda, MD, 8Center for Human Immunology, Autoimmunity and Inflammation, NHLBI/NIH, Bethesda, MD, 9Infectious Diseases, University of North Carolina School of Medicine, Chapel Hill, NC, 10Alberta Children's Hospital Research Institute/University of Calgary, Calgary, AB, Canada, 11Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 12Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, 13Rheumatology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, 14Pediatric Translational Research Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD

    Background/Purpose: Macrophage Activation Syndrome (MAS) is a life-threatening systemic inflammatory complication of many rheumatic diseases and its causes are unknown. While genetic defects causing impaired…

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