Abstracts tagged "Autoinflammation"

Abstract Number: 272 • 2015 ACR/ARHP Annual Meeting
Are the Autoimmune/Inflammatory Syndrome Induced By Adjuvants (ASIA) and the Undifferentiated Connective Tissue Disease (UCTD) Related to Each Other? a Case-Control Study of Environmental Exposures
Francesco Scanzi¹, Laura Andreoli¹, Maria Martinelli¹, Mara Taraborelli², Ilaria Cavazzana¹, Roberta Ottaviani¹, Nice Carabellese¹, Flavio Allegri¹, Franco Franceschini¹, Nancy Agmon-Levin³, Yehuda Shoenfeld⁴ and Angela Tincani¹, ¹Rheumatology and Clinical Immunology, Spedali Civili and University of Brescia, Brescia, Italy, ²Rheumatology and Clinical Immunology, Spedali Civili of Brescia, Brescia, Italy, ³Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel Aviv, Israel, ⁴Zabludowicz Center for Autoimmune Diseases, Chaim Sheba Medical Center, Tel Hashomer, Israel Incumbent of the Laura Schwarz-Kipp Chair for Research of Autoimmune Diseases, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel
Background/Purpose: The Autoimmune/Inflammatory Syndrome induced by adjuvants (ASIA) [1] is an entity that includes different autoimmune conditions observed after exposure to an adjuvant. Patients with…
Abstract Number: 899 • 2015 ACR/ARHP Annual Meeting
HA20: A Novel Autoinflammatory Disease Caused By Haploinsufficiency of A20, Encoded By TNFAIP3
Qing Zhou¹, Hongying Wang², Daniella M. Schwartz³, Monique Stoffels⁴, Yong Hwan Park², Yuan Zhang⁵, Erkan Demirkaya⁶, Masaki Takeuchi², Jonathan J. Lyons⁵, Xiaomin Yu⁵, Claudia Ouyang⁷, Amanda K. Ombrello², Deborah L. Stone², Patrycja Hoffmann², Anne Jones², Helen L. Leavis⁸, Annet van Royen-Kerkhof⁸, Ahmet Gül⁹, Seza Ozen¹⁰, Richard Siegel¹¹, Massimo Gadina¹², JaeJin Chae², Ronald Laxer¹³, Daniel L. Kastner² and Ivona Aksentijevich², ¹Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ²National Human Genome Research Institute, Bethesda, MD, ³Rheumatology fellowship and training branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ⁴National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁵National Institute of Allergy and Infectious Diseases, Bethesda, MD, ⁶Pediatric Rheumatology, Gulhane Military Medical Academy, FMF Arthritis Vasculitis and Orphan disease Research Center (FAVOR),, Ankara, Turkey, ⁷National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ⁸University Medical Center Utrecht, Utrecht, Netherlands, ⁹Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ¹⁰Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ¹¹National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹²NIAMS/NIH, Bethesda, MD, ¹³The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: We describe a new autoinflammatory syndrome caused by high penetrance heterozygous germline mutations in the NFκB regulatory protein TNFAIP3 (A20) in six unrelated families…
Abstract Number: 1370 • 2015 ACR/ARHP Annual Meeting
CD40/CD40L Pathway Is Associated with Increased Oxidative Burst and Neutrophil Extracellular Traps Release in Behcet´s Disease
Sandro F. Perazzio^1,2, Paulo Vitor Soeiro Pereira³, Alexandre W.S. Souza⁴, Antonio Condino-Neto³ and Luis Eduardo C. Andrade⁵, ¹Rheumatology Division, Universidade Federal de São Paulo, Sao Paulo, Brazil, ²Fleury Medicine and Health, Sao Paulo, Brazil, ³Immunology, ICB IV - Universidade de São Paulo, São Paulo, Brazil, ⁴Rheumatology Division, Universidade Federal de Sao Paulo, Sao Paulo, Brazil, ⁵Immunology Division, Fleury Medicine and Health, São Paulo, Brazil
Background/Purpose: Previous studies suggested that unknown plasma factors increase oxidative burst in Behçet’s disease (BD), but little is known about neutrophil extracellular traps (NET) formation.…
Abstract Number: 3094 • 2015 ACR/ARHP Annual Meeting
Dose Adjustment of Anakinra (Kineret®) Based on Clinical Response in Patients with Severe Cryopyrin-Associated Periodic Syndromes
Bengt Hallen¹, Torbjörn Kullenberg¹, Mika Leinonen², Margareta Wiken¹, Raphaela Goldbach-Mansky³ and Hans Olivecrona¹, ¹Swedish Orphan Biovitrum, Stockholm, Sweden, ²4Pharma AB, Stockholm, Sweden, ³Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD
Background/Purpose: Cryopyrin-Associated Periodic Syndromes (CAPS) include a group of rare inherited autoinflammatory diseases consisting of Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome and the most…
Abstract Number: 253 • 2015 ACR/ARHP Annual Meeting
Multiple Serum Cytokine Profiling to Identify Specific Molecular Networks in Attacks of Familial Mediterranean Fever
Tomohiro Koga¹, Kiyoshi Migita², Shuntaro Sato³, Masataka Umeda⁴, Shoichi Fukui⁵, Ayako Nishino⁴, Shinya Kawashiri⁶, Naoki Iwamoto⁵, Kunihiro Ichinose⁵, Mami Tamai⁵, Hideki Nakamura⁵, Tomoki Origuchi⁷, Yukitaka Ueki⁸, Kazunaga Agematsu⁹, Katsumi Eguchi¹⁰ and Atsushi Kawakami⁴, ¹Departments of Immunology and Rheumatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, ²Department of Rheumatology and Clinical Research Center, Nagasaki Medical Center, Omura, Japan, ³Clinical Research Center, Nagasaki University Hospital, Nagasaki, Japan, ⁴Department of Immunology and Rheumatology, Nagasaki University, Nagasaki, Japan, ⁵Department of Immunology and Rheumatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, ⁶Department of Public Health, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, ⁷Department of Rehabilitation Sciences, Nagasaki University, Nagasaki, Japan, ⁸Rheumatic and Collagen Disease Center, Sasebo Chuo Hospital, Sasebo, Japan, ⁹Department of Infectious Immunology, Shinshu University, Graduate School of Medicine, Shinshu, Japan, ¹⁰Department of Rheumatology, Sasebo Chuo Hospital, Sasebo, Japan
Background/Purpose: Familial mediterranean fever (FMF) is caused by a number of mutations of the MEFV gene, coding for a protein named pyrin that acts as…
Abstract Number: 2507 • 2014 ACR/ARHP Annual Meeting
Is There an Autoinflammatory Component in Rheumatoid Arthritis Associated with Better Response to Anakinra (Kineret^®)?
Barbara Missler-Karger¹, Hans-Eckhard Langer², Mika Leinonen³ and Björn Pilström⁴, ¹Rheumatology consultant, Cologne, Germany, ²RHIO Research Institute, Düsseldorf, Germany, ³4Pharma AB, Stockholm, Sweden, ⁴TA Inflammation, Swedish Orphan Biovitrum AB, Stockholm, Sweden
Background/Purpose 458 patients with rheumatoid arthritis (RA) and inadequate response to traditional DMARDs alone and/or TNFα blocking agents were treated with the IL-1 receptor antagonist…
Abstract Number: 1900 • 2014 ACR/ARHP Annual Meeting
HLA-DRB1*1101, Regulatory Variants of the MHC, and a Regulatory Region Near an Intergenic Long Noncoding RNA on Chromosome 1 Are Risk Factors for Systemic Juvenile Idiopathic Arthritis
Michael J. Ombrello¹, Elaine F. Remmers², Ioanna Tachmazidou³, Alexei Grom⁴, Dirk Föll⁵, Alberto Martini⁶, Marco Gattorno⁷, Seza Ozen⁸, Sampath Prahalad^9,10, Andrew S. Zeft¹¹, John F. Bohnsack¹², Norman T. Ilowite¹³, Jane L. Park¹⁴, Elizabeth D. Mellins¹⁵, Ricardo A. G. Russo¹⁶, Claudio A. Len¹⁷, Sheila K. Feitosa de Oliveira¹⁸, Rae SM Yeung¹⁹, Lucy R. Wedderburn^20,21, Jordi Anton²², Tobias Schwarz²³, Buhm Han²⁴, Richard H. Duerr²⁵, Jean-Paul Achkar²⁶, M. Ilyas Kamboh²⁷, Kenneth M. Kaufman²⁸, Leah C. Kottyan²⁸, Dalila Pinto²⁹, Stephen Scherer³⁰, Marta E. Alarcón-Riquelme³¹, Elisa Docampo Martinez³², Xavier Estivill³³, Ahmet Gul³⁴, Colleen Satorius³⁵, Paul I.W. de Bakker^36,37,38, Soumya Raychaudhuri^37,39,40, Carl D. Langefeld⁴¹, Susan D. Thompson⁴², Eleftheria Zeggini³, Wendy Thomson⁴³, Daniel L. Kastner⁴⁴, Patricia Woo⁴⁵ and International Childhood Arthritis Genetics (INCHARGE) Consortium, ¹Translational Genetics and Genomics Unit, National Institute of Arthritis Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ²Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³The Wellcome Trust Sanger Institute, Cambridge, United Kingdom, ⁴Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵Pediatric Rheumatology and Immunology, University Children's Hospital Muenster, Muenster, Germany, ⁶University of Genova, Genova, Italy, ⁷Pediatric Rheumatology, Instituto Giannina Gaslini, Genoa, Italy, ⁸Deptartment. of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey, ⁹Emory University School of Medicine, Atlanta, GA, ¹⁰Children's Healthcare of Atlanta, Atlanta, GA, ¹¹Pediatrics Rheumatology, Cleveland Clinic, Cleveland, OH, ¹²Pediatriacs, University of Utah, Salt Lake City, UT, ¹³Pediatrics, Albert Einstein College of Medicine, Bronx, NY, ¹⁴Pediatric Rheumatology, Stanford University Medical Center, Stanford, CA, ¹⁵Dept of Pediatrics CCSR, Stanford University Medical Center, Stanford, CA, ¹⁶Immunology & Rheumatology, Hospital de Pediatria Garrahan, Buenos Aires, Argentina, ¹⁷Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, Brazil, ¹⁸Pediatric Rheumatology, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil, ¹⁹Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ²⁰University College London (UCL) Institute of Child Health, London, United Kingdom, ²¹Great Ormond Street Hospital, London, United Kingdom, ²²Pediatric Rheumatology Unit. Hospital Sant Joan de Déu. Universitat de Barcelona, Barcelona, Spain, ²³Pediatric rheumathology and osteology, University of Wuerzburg, Wuerzburg, Germany, ²⁴Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, ²⁵Department of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, PA, ²⁶Gastroenterology and Hepatology, Cleveland Clinic, Cleveland, OH, ²⁷Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, ²⁸Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²⁹Genetics and Genomi Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, ³⁰The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada, ³¹Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ³²Unit of Animal Genomics, GIGA-Université de Liège, LIege, Belgium, ³³Genetic Causes of Disease Laboratory, Center for Genomic Regulation, Barcelona, Spain, ³⁴Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ³⁵National Human Genome Research Institute, Bethesda, MD, ³⁶Brighan and Women's Hospital, Harvard Medical School, Boston, MA, ³⁷Broad Institute of MIT and Harvard, Cambridge, MA, ³⁸University Medical Center Utrecht, Utrecht, Netherlands, ³⁹Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ⁴⁰Manchester Academic Health Sciences Centre, Manchester, United Kingdom, ⁴¹Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ⁴²Division and Center for Autoimmune Disease Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴³Institute of Inflammation and Repair, The University of Manchester, Manchester, United Kingdom, ⁴⁴Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ⁴⁵Paediatric Rheumatology Unit, University College London, London, United Kingdom
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe inflammatory disease of unknown etiology. We utilized a genomic approach to interrogate the molecular pathogenesis of…
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…

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