Abstracts tagged "interferons and vasculitis"

Abstract Number: 2256 • 2016 ACR/ARHP Annual Meeting
Histopathologic Features and Tissue Interferon-Response Gene Scoring of Lesional Skin Samples for Diagnosis in Autoinflammatory Disorders
Kyawt W. Shwin^1,2, Chyi-Chia Richard Lee³, Adriana Almeida de Jesus⁴, Carmelo Carmona-Rivera⁵, Louise Malle⁴, Yanfeng Hou⁶, Gina A. Montealegre Sanchez⁴, Edward Cowen⁷ and Raphaela Goldbach-Mansky⁸, ¹Translational Autoinflammatory Diseases Studies, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, ²National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³Dermatopathology Section, Laboratory of Pathology, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD, ⁴National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ⁵Systemic Autoimmunity Branch/ NIAMS, National Institutes of Health, Bethesda, MD, ⁶Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, ⁷Dermatology Branch, National Cancer Institute (NCI), National Institutes of Health, Bethesda, MD, ⁸Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD
Background/Purpose: Many genetically defined autoinflammatory diseases (AID) are caused by innate immune dysregulation and present with “neutrophilic dermatoses”. This study systematically assesses immune-cell infiltrates, and…
Abstract Number: 1025 • 2015 ACR/ARHP Annual Meeting
Interstitial Lung Disease in Sting-Associated Vasculopathy with Onset in Infancy (SAVI): Genotype-Phenotype Correlation
Louise Malle¹, Bernadette Marrero¹, Yin Liu², Gina A. Montealegre Sanchez¹, Dawn C. Chapelle¹, Hanna Kim^1,3, Michelle O'Brien¹, Suzanne Ramsey⁴, Gregor Dueckers⁵, Seza Ozen^6,7, Helmut Wittkowski⁸, Dirk Föll⁹, Klaus Tenbrock¹⁰, Olcay Y. Jones¹¹, Steven M. Holland¹², Joseph Fontana¹³, Yan Huang¹, Benito Gonzalez¹⁴, Paul Brogan¹⁵, Juergen Brunner¹⁶, Athimalaipet V Ramanan¹⁷, Tom Hilliard¹⁷, Laisa Santiago¹⁸, AnneMarie Brescia¹⁹, Amy Paller²⁰, Stephen Brooks²¹, Zuoming Deng²², Adriana Almeida de Jesus¹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD, ²Scientific Review Branch, NIAMS, NIH, Bethesda, MD, ³Pediatric Rheumatology, Alfred I duPont Hospital for Children, Wilmington, DE, ⁴Pediatric Rheumatology, IWK Health Centre, Halifax, NS, Canada, ⁵Helios Kliniken - Kinderklinik, HELIOS Klinikum Krefeld, Krefeld, Germany, ⁶Paediatric Rheumatology International Trials Organization (PRINTO), Istituto Giannina Gaslini, Genova, Italy, ⁷Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ⁸Pediatrics, University of Muenster, Muenster, Germany, ⁹University of Muenster, Muenster, Germany, ¹⁰University Aachen, Aachen, Germany, ¹¹Rheumatology, George Washington University, Washington, DC, ¹²Laboratory of Clinical Infectious Disease, NIAID, NIH, Bethesda, MD, ¹³NHLBI, NIH, Bethesda, MD, ¹⁴Luis Calvo Mackenna Hospital, Santiago, Chile, ¹⁵UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ¹⁶Universitätsklinik für Kinder- u. Jugendheilkunde, Innsbruck, Austria, ¹⁷Bristol Royal Hospital for Children, Bristol, United Kingdom, ¹⁸All Children's Hospital Rheumatology, Saint Petersburg, FL, ¹⁹Jefferson Medical College/ A.I. Dupont Hospital for Children, Willmington, DE, ²⁰Departments of Dermatology and Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA;, Chicago, IL, ²¹NIAMS/NIH, Bethesda, MD, ²²Biodata Mining & Discovery, NIAMS/NIH, Bethesda, MD
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is an IFN-mediated disease caused by gain-of-function mutations in TMEM173, the gene encoding the stimulator of interferon…
Abstract Number: 1812 • 2014 ACR/ARHP Annual Meeting
Investigation of the Sting/Interferon Pathway Activation in a Novel Vasculopathy and Pulmonary Syndrome
Yin Liu¹, Adriana Almeida de Jesus^2,3, Bernadette Marrero⁴, Dan Yang⁵, Gina A. Montealegre Sanchez⁶, Steve Brooks⁷, Zuoming Deng⁸, Amy Paller⁹, Manfred Boehm⁵ and Raphaela Goldbach-Mansky⁶, ¹Translational Autoinflammatory Disease Section, Office of the Clinical Director, NIAMS/NIH, Bethesda, MD, ²Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ³Translational Autoinflammatory Diseases Section, NIAMS/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Disease Section, NIAMS/NIH, Bethesda, MD, ⁵Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, ⁶Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ⁷NIAMS/NIH, Bethesda, MD, ⁸Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ⁹Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL
Background/Purpose: We have recently studied a group of patients with a prominent interferon (IFN) signature in the blood, distinct from IL-1 mediated autoinflammatory diseases. Six…

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