Abstracts tagged "Fever"

Abstract Number: 894 • 2013 ACR/ARHP Annual Meeting
Intermittent Fever, Immune Dysregulation, and Systemic Vasculopathy Due To Loss-Of-Function Mutations In Adenosine Deaminase2
Qing Zhou¹, Dan Yang², Andrey Zavialov³, Amanda Ombrello⁴, Hyesun Kuehn⁵, Jae Jin Chae⁶, Anton Zavialov³, David Chin⁷, Deborah Stone⁸, Camilo Toro⁹, Joshua Milner¹⁰, Chyi-chia Lee¹¹, Edward Cowen¹², Fabio Candotti¹³, Elaine Remmers⁷, Susan Moir¹⁴, Raman Sood¹⁵, Shawn Burgess¹⁶, Massimo Gadina¹⁷, Sergio Rosenzweig¹⁸, Michael Hershfield¹⁹, Daniel L. Kastner²⁰, Manfred Boehm² and Ivona Aksentijevich⁷, ¹Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ²Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, ³Turku Centre for Biotechnology, University of Turku, Turku, Finland, ⁴National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁵Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, ⁶Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁷Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁸National Human Genome Research Institute, Bethesda, MD, ⁹NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ¹⁰Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹¹National Cancer Institute, National Institutes of Health, Bethesda, MD, ¹²Dermatology Consultation Servce, National Cancer Institute, National Institutes of Health, Bethesda, MD, ¹³Disorder of Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ¹⁴Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹⁵Zebrafish Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ¹⁶Developmental Genomics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ¹⁷Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ¹⁸National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹⁹Department of Medicine, Duke University Medical Center, Durham, NC, ²⁰Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD
Background/Purpose: We observed a syndrome characterized by intermittent fevers and livedoreticularis, systemic inflammation, hepatosplenomegaly, cytopenias, vasculopathy, and early-onset lacunar strokes in five unrelated patients. We…
Abstract Number: 2273 • 2013 ACR/ARHP Annual Meeting
Patient Survey Challenges Conventional Notions Regarding Symptoms and Experiences Of People Living With Rheumatoid Arthritis
Kelly O'Neill Young¹, Cynthia S. Crowson² and Dana M. Symons¹, ¹Rheumatoid Patient Foundation, Cocoa, FL, ²Department of Health Sciences Research, Mayo Clinic, Rochester, MN
Background/Purpose: While rheumatoid arthritis (RA) has been studied for decades, many aspects of the disease are not well understood. Like systemic lupus erythematosus, RA manifests…
Abstract Number: 2024 • 2012 ACR/ARHP Annual Meeting
Articular Symptoms in Cryopyrin-Associated Periodic Syndrome: Retrospective French Study
Laetitia Houx¹, Pierre Quartier², Isabelle Kone-Paut³, Xavier Guennoc⁴, Pascal Pillet⁵, Thierry Lequerre⁶, Irene Lemelle⁷, Mohamed Hamidou⁸, Gilles Grateau⁹, Eric Hachulla¹⁰, Jean-Marie Berthelot¹¹, Benedicte Neven¹², Christophe Richez¹³, Anne Pagnier¹⁴, Veronique Hentgen¹⁵ and Valerie Devauchelle-Pensec¹⁶, ¹Physical Medical Rehabilitation, Brest, France, ²Necker-Enfants Malades Hospital,, Paris, France, ³Pediatrics, Hospital Kremlin Bicêre, Kremlin-Bicêtre, France, ⁴Rheumatology, Hopital de Saint Brieuc, France, ⁵Paediatry, CHU, Bordeaux, France, ⁶Rheumatology, Rouen, France, ⁷Paediatry, CHU, Nancy, France, ⁸Internal Medicine Department, Nantes University Hospital, Nantes, France, ⁹Service De Médecine Interne, Hopital Tenon, Paris, France, ¹⁰Department of Internal Medicine, Claude Huriez University Hospital, Lille, France, ¹¹Rheumatology Unit, Nantes University Hospital, Nantes, France, ¹²Inserm U768, Paris, France, ¹³Rheumatology, Hôpital Pellegrin and Université Victor Segalen Bordeaux, Bordeaux, France, ¹⁴Service de pediatrie, Grenoble, France, ¹⁵Versailles Hospital, Le Chesnay Cedex, France, ¹⁶Department of rheumatology and unit of immunology (EA2216), Brest Occidentale university, Brest, France
Background/Purpose: The cryopyrin-associated periodic syndrome (CAPS) is a rare inherited inflammatory disease associated with a mutation in the NLRP3 gene. Articular symptoms are often described…
Abstract Number: 2025 • 2012 ACR/ARHP Annual Meeting
Clinical Characteristics and Therapy Response in a Large Single-Centre Cohort of Patients with Periodic Fever with Aphtous Stomatitis, Pharyngitis and Cervical Adenitis Syndrome
Francesca Ricci¹, Antonella Meini¹, Lucio Verdoni², Laura Dotta¹, Marta Bolis², Marco Berlucchi³, Gianfranco Savoldi⁴ and Marco Cattalini², ¹Pediatric Clinic, University of Brescia and Spedali Civili di Brescia, Pediatric Immunology and Rheumatology Unit, Brescia, Italy, ²Pediatric Clinic, Spedali Civili di Brescia and University of Brescia, Pediatric Immunology and Rheumatology Unit, Brescia, Italy, ³Spedali Civili di Brescia, Department of Pediatric Otorhinolaryngology, Brescia, Italy, ⁴Spedali Civili di Brescia, Angelo Nocivelli Institute of Molecular Medicine, Brescia, Italy
Background/Purpose: PFAPA (Period Fever with Aphtous stomatitis, Pharyngitis and cervical Adenitis), is a periodic syndrome described for the first time in 1987 by Marshall et…
Abstract Number: 189 • 2012 ACR/ARHP Annual Meeting
Pedal Swelling As a Characteristic Phenotype of the New Category of Autoinflammatory Disease Associated with NOD2 Gene Mutations
Qingping Yao, Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH
Background/Purpose: Autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high titer autoantibodies or antigen specific T cells, and derive from genetic variants…

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