Abstracts tagged "Genetic disorders"

Abstract Number: 2074 • 2015 ACR/ARHP Annual Meeting
Dominant Chilblain Lupus Due to an Activating Mutation of Sting – Suppression of Constitutive Type I Interferon Activation By JAK Inhibition
Christoph Fiehn¹, Nadja König², Christine Wolf², Mathias Lesche³, Andreas Dahl³, Claudia Guenther⁴, Hanns-Martin Lorenz⁵ and Min Ae Lee-Kirsch², ¹ACURA Centre for Rheumatic Diseases, Baden-Baden, Germany, ²Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany, ³Department of Dermatology, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany, ⁴Biotechnology Center, Technische Universität Dresden, Dresden, Germany, ⁵Department of Internal Medicine 5, Division of Rheumatology, University of Heidelberg, Heidelberg, Germany
Background/Purpose: Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by mutations in the nucleases TREX1 or SAMHD1. The adapter molecule stimulator…
Abstract Number: 2081 • 2014 ACR/ARHP Annual Meeting
Ehlers-Danlos Hypermobile (EDS-HT) Patients and Postural Instability : Another Clue to Explain Pain and Fatigue ?
Roland Jaussaud¹, Elodie Vlamynck², Rami Haidar³, Dorothée Lambert⁴, Violaine Laurant-Noel⁵ and Amélie Servettaz⁵, ¹Médecine interne, maladies infectieuses, immunologie clinique, CHU de Reims, REIMS, France, ²Cabinet d'Orthopédie, Versailles, France, ³Cabinet d'Orthopédie, Lille, France, ⁴Médecine interne, maladies infectieuses, Immunologie clinique, CHU Reims, Reims, France, ⁵Médecine interne, maladies infectieuses, immunologie clinique, Hôpital Robert Debré. CHU de Reims, Reims, France
Background/Purpose Postural instability was found in several functional disorders including dyslexia, chronic pain and fibromyalgia. Furthermore, the link between vertical heterophoria (VH) and postural control…
Abstract Number: 2742 • 2013 ACR/ARHP Annual Meeting
Blau Syndrome-Associated NOD2 Mutations Limit Production Of IL-6 and KC/IL-8 In Knock-In Mice and In Patients Suggesting a Loss Of Function Disease Mechanism
Jae Dugan¹, Eric Griffiths¹, Paige Snow¹, Holly L. Rosenzweig¹, Carlos D. Rose², Daniel Carr¹, James T. Rosenbaum³ and Michael Davey¹, ¹Dept. of Veterans Affairs Medical Center, Portland, OR, ²Pediatric Rheumatology, Thomas Jefferson University/ AI duPont Hospital for Children, Wilmington, DE, ³Arthritis and Rheumatic diseases, Oregon Health and Science University, Portland, OR
Background/Purpose: Blau syndrome is an autosomal dominant disorder caused by mutations in nucleotide-binding oligomerization domain 2 (Nod2) and characterized by arthritis, dermatitis and uveitis. Nod2…
Abstract Number: 764 • 2013 ACR/ARHP Annual Meeting
Inflammatory Disease Due To Dysregulated Nuclear Factor-κB Activation and Impaired Type I Interferon Response Resulting From a De Novo Human NEMO Hypomorphic Mutation
Alex Wessel¹, Amy Hsu², Jevgenia Zilberman-Rudenko¹, Raphaela Goldbach-Mansky³, Richard M. Siegel¹ and Eric Hanson¹, ¹Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ²Laboratory of Clinical Infectious Diseases, NIAID, Bethesda, MD, ³Pediatric Translational Research Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD
Background/Purpose: The NF-kB family of transcription factors regulate innate and adaptive immunity, in addition to driving pro-inflammatory-disease states. The type I interferon response acts in…
Abstract Number: 2670 • 2012 ACR/ARHP Annual Meeting
Genome-Wide Association Study On the Severity of Joint Destruction in Autoantibody Positive Rheumatoid Arthritis Identifies a Role for Sperm Associated Antigen 16
Rachel Knevel¹, Kerstin Klein², Klaartje Somers³, Caroline Ospelt⁴, Jeanine J. Houwing-Duistermaat⁵, Jessica van Nies⁶, Diederik P.C. de Rooy⁶, Laura de Bock⁷, Joris Schonkeren⁸, Gerrie Stoeken-Rijsbergen⁶, Jenna Kiridly⁹, Luis Rodriguez-Rodriguez⁹, Quinta Helmer⁵, Piet Sinissen³, Tom W. J. Huizinga¹, René E.M. Toes¹, Steffen Gay¹⁰, Peter K. Gregersen¹¹, Veerle Somers⁷ and Annette H.M. van der Helm - van Mil⁸, ¹Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ²Center of Experimental Rheumatology, University Hospital Zurich and Zurich Center of Integrative Human Physiology (ZIHP),, Zurich, Switzerland, ³Hasselt University, Biomedical Research Institute, Diepenbeek, Belgium, ⁴Center of Experimental Rheumatology, University Hospital Zurich and Zurich Center of Integrative Human Physiology (ZIHP), Switzerland, Zurich, Switzerland, ⁵Department of Medical Statistics and Bioinformatics, Leiden, Netherlands, ⁶Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ⁷Hasselt University, Biomedical Research Institute, Belgium, ⁸Leiden University Medical Center, Leiden, Netherlands, ⁹Feinstein Institute for Medical Research and North Shore–Long Island Jewish Health System, Manhasset, New York, ¹⁰Center of Experimental Rheumatology, University Hospital Zurich, Zurich, Switzerland, ¹¹Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY
Background/Purpose: Recent genome-wide association studies (GWAs) have identified >30 SNPs predisposing to Rheumatoid Arthritis (RA). These variants are helpful in unraveling the pathogenesis of RA.…
Abstract Number: 1154 • 2012 ACR/ARHP Annual Meeting
Impact of FokI VDR and TNFalpha–308 Polymorphism On Disease Severity and Long Term Outcome in JIA Patients On Anti-TNF Treatment
Jelena Vojinovic¹, Jelena Basic², Gordana Susic³, Dragana Lazarevic⁴ and Nemanja Damjanov⁵, ¹Dept Pediatric Rheumatology, Clinical Center, School of Medicine University of Nis, Nis, Serbia, ²Institute of Biochemistry, School of Medicine University of Nis, Dr, Nis, Serbia, ³Istituto Giannina Gaslini, Genoa, Italy, ⁴Dept Pediatric Rheumatology, Clinical Center, School of Medicine University of Nis, Dr, Nis, Serbia, ⁵Institute for Rheumatology, University of Belgrade, Prof, Belgrade, Serbia
Background/Purpose: Genetic contribution of SNP (single nucleotide polymorphism) of TNFα–308 promoter and FoxI for VDR (vitamin D receptor) polymorphism on disease severity and outcome in…
Abstract Number: 986 • 2012 ACR/ARHP Annual Meeting
Genome Wide Association Studies of Knee Osteoarthritis in 2 Large North American Cohorts: A Meta-Analysis with 2667 Cases
Marc C. Hochberg¹, Laura Yerges-Armstrong², Changwan (Larry) Lu³, Michelle S. Yau⁴, Braxton D. Mitchell², Joanne M. Jordan⁵, Youfang Liu⁶, Jordan B. Renner⁷, T. McSherry⁸, D.M. Taverna⁸, David Duggan⁹, W.J. Mysiw¹⁰ and Rebecca D. Jackson¹⁰, ¹Department of Medicine, University of Maryland, Baltimore, MD, ²Departments of Medicine and Epidemiology & Public Health, University of Maryland School of Medicine, Baltimore, MD, ³University of Maryland School of Medicine, Baltimore, MD, ⁴University of Maryland, Baltimore, MD, ⁵Thurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC, ⁶University of North Carolina, Chapel Hill, NC, ⁷University of North Carolina Department of Radiology, Chapel Hill, NC, ⁸TGen, Pheonix, AZ, ⁹Translational Genomics Research Institute, Phoenix, AZ, ¹⁰Ohio State University, Columbus, OH
Background/Purpose: A strong genetic contribution to knee osteoarthritis (OA) is widely recognized although few loci have been robustly associated with knee OA susceptibility. To identify…
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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