Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 326 • 2014 ACR/ARHP Annual Meeting
IL-1 Receptor Antagonis (IL-1Ra)-Fc Ameliorate Autoimmune Arthritis By Regulation of the Th17 Cells/Treg Balance and Arthrogenic Cytokine Activation
Hong Ki Min¹, Sung Hwan Park², Mi-La Cho³, Ji Hyeon Ju¹, Seung-Ki Kwok⁴, Seon-Yeong Lee³, Seung Min Jung¹, Kyung-Su Park⁵ and Jennifer Lee¹, ¹Division of Rheumatology, Department of Internal Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, South Korea, ²Division of Rheumatology, Department of Internal Medicine, School of Medicine, The Catholic University of Korea, Seoul St. Mary's Hospital, Seoul, South Korea, ³Rheumatism Research Center, Catholic Research Institute of Medical Science, Catholic University of Korea, Seoul, South Korea, ⁴Division of Rheumatology, Department of Internal Medicine, St. Mary’s hospital, The Catholic University of Korea, Seoul, South Korea, ⁵Internal Medicine, St. Vincent Hospital, SuWon Gyeonggi-do, South Korea
Background/Purpose: : IL-1ß signalling has critical role on pathogenesis of various inflammatory arthritis including rheumatoid arthritis (RA). We aimed to investigate the therapeutic effects of…
Abstract Number: 315 • 2014 ACR/ARHP Annual Meeting
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…
Abstract Number: 305 • 2014 ACR/ARHP Annual Meeting
Understanding the Molecular Pathogenesis of and Response to Canakinumab Treatment in TNF Receptor-Associated Periodic Syndrome By Gene Expression Profiling of Whole Blood from Patients
R. Torene¹, M. Gattorno², H. Lachmann³, L. Obici⁴, A. Meini⁵, V. Tormey⁶, R. Caorsi⁷, L. Baeriswyl⁸, U. Affentranger⁸, S. Starck-Schwertz⁸, M. Letzkus⁸, N. Hartmann⁸, K. Abrams⁹ and N. Nirmala¹, ¹Novartis Institutes for BioMedical Research, Cambridge, MA, ²Pediatric Rheumatology, G. Gaslini Institute, Genova, Italy, ³Royal Free Hospital, London, United Kingdom, ⁴Amyloid Centre, IRCCS Policlinico San Matteo, Pavia, Italy, ⁵Pediatric Clinic, Spedali Civili, Brescia, Italy, ⁶Galway University Hospitals, Galway, Ireland, ⁷Second Division of Paediatrics, G. Gaslini Institute, Genova, Italy, ⁸Novartis Institutes for BioMedical Research, Basel, Switzerland, ⁹Novartis Pharmaceutical Corporation, East Hanover, NJ
Background/Purpose: TNF receptor-associated periodic syndrome (TRAPS) is an autoinflammatory disease causing unprovoked fevers, myalgia, abdominal pain, rash, headaches, and, in severe cases, AA amyloidosis. It…
Abstract Number: 2747 • 2013 ACR/ARHP Annual Meeting
Canakinumab Treatment In Schnitzler’s Syndrome: A Multi-Center Randomized Placebo-Controlled 4-Month Study
Karoline Krause, Karsten Weller, Martin Metz and Marcus Maurer, Dept. of Dermatology and Allergy, Allergie-Centrum-Charité, Charité – Universitätsmedizin Berlin, Germany, Berlin, Germany
Background/Purpose: Schnitzler’s syndrome (SchS) is an adult-onset autoinflammatory disease characterized by urticarial exanthema and monoclonal gammopathy in combination with episodes of fever, arthralgia, fatigue, and…
Abstract Number: 227 • 2013 ACR/ARHP Annual Meeting
Quantitative Image Analysis Of Articular Involvement In Blau Syndrome By Radiographic Calpal Length and Ultrasound Assessment
Tsuyoshi Yamatou¹, Tomohiro Kubota², Harumi Akaike¹, Yuichi Yamasaki², Yukiko Nonaka¹, Yasuhito Nerome¹, Tomoko Takezaki¹, Hiroyuki Imanaka¹, Kei Ikeda³, Naotomo Kambe⁴, Syuji Takei⁵ and Tomokazu Nagakura⁶, ¹Department of Pediatrics, Kagoshima University Hospital, Kagoshima, Japan, ²Dept of Pediatrics, Faculty of Medicine, Kagoshima University, Kagoshima, Japan, ³Department of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan, ⁴Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan, ⁵School of Health Sciences, Faculty of Medicine, Kagoshima University, Kagoshima, Japan, ⁶Department of Pediatrics, House of Meguminoseibo, Usuki, Japan
Background/Purpose: Blau syndrome (Blau) is a rare auto-inflammatory disease, and it has now been shown to be caused by NOD2/CARD15 gene mutations. Clinical features of…
Abstract Number: 2750 • 2013 ACR/ARHP Annual Meeting
Long-Term Efficacy and Safety Of IL1 Receptor Antagonist In Schnitzler’s Syndrome : A French Multicenter Study
Antoine Néel¹, Agathe Masseau¹, Sebastien Barbarot², Benoit Henry³, Pierre-Jean Weiller⁴, Olivier Decaux⁵, Xavier Kyndt⁶, Xavier Puechal⁷, Arnaud Hot⁸, Pierre Pottier¹, Amar Smail⁹, David Launay¹⁰, Jean-Marie Berthelot¹¹, Eric Hachulla¹², Leonardo Astudillo¹³, Pierre-Yves Hatron¹², Laurent Sailler¹³, Aurelien Lorleac'h¹⁴, Achille Aouba¹⁵, Bérangère Cador¹⁶, Renato Fior¹⁷, Robin Dhote¹⁸, Fabrice Bonnet¹⁹, Jean-Dominique de Korwin²⁰ and Mohamed Hamidou¹, ¹Internal Medicine Department, Nantes University Hospital, Nantes, France, ²Dermatology, Nantes University Hospital, Nantes, France, ³Infectious and Tropical Diseases, Pitié-Salpêtrière University Hospital, Paris, France, ⁴Internal Medicine Department, La Timone University Hospital, Marseille, France, ⁵Department of Internal Medicine, Rennes University Hospital, Rennes, France, ⁶Department of Nephrology and Internal Medicine, CH, Valenciennes, Valenciennes, France, ⁷Internal Medicine, Hôpital Cochin, Paris, France, ⁸Internal Medicine, Edouard Herriot University Hospital, Lyon, France, ⁹Internal Medicine Department, CHU Amiens Nord, Amiens, France, ¹⁰Internal Medicine, Claude Huriez University Hospital, Lille, France, ¹¹Rheumatology Unit, Nantes University Hospital, Nantes, France, ¹²Department of Internal Medicine, Claude Huriez University Hospital, Lille, France, ¹³Department of Internal Medicine, Toulouse University Hospital, Toulouse, France, ¹⁴Internal Medicine Department, Lorient Hospital, Lorient, France, ¹⁵Hematology, Necker University Hospital, Paris, France, ¹⁶Internal Medicine Department, Rennes University Hospital, Rennes, France, ¹⁷Internal Medicine Department, Antoine Béclère University Hospital, Clamart, France, ¹⁸Internal Medicine, Avicenne University Hospital, Bobigny, France, ¹⁹Internal Medicine, Bordeaux University Hospital, Bordeaux, France, ²⁰Internal Medicine Department, Nancy University Hospital, Nancy, France
Background/Purpose: Schnitzler's syndrome is a rare late onset auto-inflammatory disease which associates a chronic/recurrent urticarial skin rash, a monoclonal gammopathy (mostly IgM kappa), and a…
Abstract Number: 2613 • 2013 ACR/ARHP Annual Meeting
NF-κB Pathway Is Depleted In Phagocytes From Behçet´s Disease Patients Secondarily To Constitutive Phosphorylation Of The p65 Subunit
Sandro F. Perazzio^1,2, Paulo Vitor Soeiro Pereira³, Alexandre W.S. Souza^4,5, Antonio Condino-Neto³ and Luis Eduardo C. Andrade⁶, ¹Rheumatology, Escola Paulista de Medicina - 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, ⁴University Medical Center Groningen, Groningen, Netherlands, ⁵Rheumatology Div/Dept of Med, Escola Paulista de Medicina - Universidade Federal de São Paulo, Sao Paulo, Brazil, ⁶Rheumatology Division, Escola Paulista de Medicina - Universidade Federal de São Paulo, Sao Paulo, Brazil
Background/Purpose: : Increased neutrophil activation has been previously shown in Behçet’s disease (BD) patients and it is unclear whether neutrophil activation occurs constitutively or if…
Abstract Number: 2614 • 2013 ACR/ARHP Annual Meeting
Plasma Of Active Behçet´s Disease Increases Oxidative Metabolism Profile Of Normal and Patients Phagocytes
Sandro F. Perazzio^1,2, Paulo Vitor Soeiro Pereira³, Alexandre W.S. Souza^4,5, Antonio Condino-Neto³ and Luis Eduardo C. Andrade⁶, ¹Rheumatology, Escola Paulista de Medicina - 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, ⁴University Medical Center Groningen, Groningen, Netherlands, ⁵Rheumatology Div/Dept of Med, Escola Paulista de Medicina - Universidade Federal de São Paulo, Sao Paulo, Brazil, ⁶Rheumatology Division, Escola Paulista de Medicina - Universidade Federal de São Paulo, Sao Paulo, Brazil
Background/Purpose: Behçet’s disease (BD) exhibits several features suggestive of neutrophil hiperactivity. It is unclear whether neutrophil activation occurs constitutively or if it is secondary to…
Abstract Number: 2173 • 2013 ACR/ARHP Annual Meeting
The Interleukin-1 Receptor Antagonist Anakinra Is Effective In The Treatment Of Undifferentiated Periodic Fever Syndromes
Daniella M. Schwartz¹, Runsheng Wang², Karyl Barron³, Daniel L. Kastner⁴ and Amanda K. Ombrello⁵, ¹Rheumatology fellowship and training branch, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ²NIH/NIAMS, Rheumatology fellowship and training branch, Bethesda, MD, ³Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ⁴Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ⁵National Human Genome Research Institute,National Institute of Health, Bethesda, MD
Background/Purpose: The autoinflammatory diseases are a group of disorders associated with dysregulation of the innate immune system. They are characterized by recurrent episodes of fever…
Abstract Number: 1781 • 2013 ACR/ARHP Annual Meeting
Clinical Variation In Children With Mutations In MEFV
Karyl Barron¹, Amanda K. Ombrello², Ivona Aksentijevich³, Anne Jones³ and Daniel L. Kastner³, ¹Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ²National Human Genome Research Institute,National Institute of Health, Bethesda, MD, ³Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
Background/Purpose: As a referral clinic for children with periodic fevers, we see a wide variety of clinical presentations. While genetic testing is usually helpful in…
Abstract Number: 1783 • 2013 ACR/ARHP Annual Meeting
Canakinumab Treatment In Active Hyper-IgD With Periodic Fever Syndrome
Juan Ignacio Aróstegui¹, Inmaculada Calvo², Jordi Anton³, Angel Robles⁴, Jordi Yagüe¹, Ruth Viana⁵, Lillian Tseng⁶ and Ken Abrams⁶, ¹Immunology Department, Hospital Clinic Barcelona, Barcelona, Spain, ²Hospital La Fe, Valencia, Spain, ³Rheumatology, Hospital Sant Joan de Deu, Barcelona, Spain, ⁴Hospital La Paz, Madrid, Spain, ⁵Medical Department, Novartis Farmacéutica, S.A., Barcelona, Spain, ⁶Novartis Pharmaceuticals Corporation, East Hanover, NJ
Background/Purpose: Hyper-IgD with periodic fever syndrome (HIDS) is a recessively inherited autoinflammatory disease due to biallelic MVK mutations. It is characterized by 4-6 days-long acute…
Abstract Number: 1703 • 2013 ACR/ARHP Annual Meeting
High Density Genotyping Of Immune-Related Disease Genes Identifies 7 New Susceptibility Loci For Behçet’s Disease
Masaki Takeuchi^1,2, Nobuhisa Mizuki², Akira Meguro², Michael J. Ombrello³, Colleen Satorius⁴, Yohei Kirino², Tatsukata Kawagoe², Duran Ustek⁵, Ilknur Tugal-tutkun⁶, Emire Seyahi⁷, Yilmaz Ozyazgan⁷, Shigeaki Ohno⁸, Atsuhisa Ueda², Yoshiaki Ishigatsubo², Ahmet Gül^6,9, Daniel L. Kastner⁴ and Elaine Remmers⁴, ¹Medical Genetics Branch, Inflammation Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ²Yokohama City University Graduate School of Medicine, Yokohama, Japan, ³Translational Genetics and Genomics Unit, National Institute of Arthritis Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁴Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁵Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey, ⁶Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁷Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁸Hokkaido University Graduate School of Medicine, Hokkaido, Japan, ⁹Department of Internal Medicine, Rheumatology Division, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey
Background/Purpose: Genome-wide association studies have revealed susceptibility genes for many genetically complex diseases. The Immunochip is a custom array with 196,524 markers in 186 loci…
Abstract Number: 1355 • 2013 ACR/ARHP Annual Meeting
Subcutaneous Administration Of Methotrexate With a Prefilled Autoinjector Pen Results In a Higher Relative Bioavailability Compared To Oral Administration Of Methotrexate
Uwe Pichlmeier and Kay-Uwe Heuer, medac GmbH, Wedel, Germany
Background/Purpose: Methotrexate (MTX) is commonly used in the treatment of RA, psoriasis, and psoriatic arthritis. Subcutaneously administered MTX is well absorbed and appears to overcome…
Abstract Number: 1297 • 2013 ACR/ARHP Annual Meeting
Human IL-1alpha Conditional Transgenic Mice Mimic Autoinflammatory Syndromes In Human
Hiroya Kanagawa¹, Yasuo Niki², Yoshiaki Toyama³ and Takeshi Miyamoto⁴, ¹Department of Orthopaedic Surgery, Keio University, Shinjuku-ku, Tokyo, Japan, ²Orthopaedic Surgery, Department of Orthopaedic Surgery, Keio University, Tokyo, Japan, ³Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan, ⁴Department of Orthopaedic Surgery, Keio University, Shinjuku-ku,Tokyo, Japan
Background/Purpose: Recently, IL-1 is implicated in the pathogenesis of autoinflammatory syndrome, which characterized by rash, fever, systemic polyarthritis and neurological comorbidity. Recently, IL-1 becomes noticed…
Abstract Number: 1203 • 2013 ACR/ARHP Annual Meeting
An Escalating Dose Of Anakinra In Patients With Autoinflammatory Disease Is a Safe and Reasonable Therapeutic Option
Amanda K. Ombrello¹, Karyl Barron², Patrycja M. Hoffmann³, Anne Jones³, Deborah Stone⁴ and Daniel L. Kastner⁵, ¹National Human Genome Research Institute,National Institute of Health, Bethesda, MD, ²Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ³Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁴National Human Genome Research Institute, Bethesda, MD, ⁵Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD
Background/Purpose: The autoinflammatory diseases are diseases in which there is seemingly unprovoked stimulation of the innate immune system. The enhanced release of cytokines in…

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