Abstracts tagged "Autoinflammatory Disease"

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: 2283 • 2014 ACR/ARHP Annual Meeting
Steroid-Sparing Effect of Anakinra (Kineret^®) in the Treatment of Patients with Severe Cryopyrin-Associated Periodic Syndrome
Bengt Hallén, Mika Leinonen, Torbjörn Kullenberg and Hans Olivecrona, Swedish Orphan Biovitrum, Stockholm, Sweden
Background/Purpose Cryopyrin-Associated Periodic Syndromes (CAPS) include a group of rare inherited autoinflammatory diseases consisting of FCAS, Muckle-Wells Syndrome and the most severe form, NOMID. Reduction…
Abstract Number: 2285 • 2014 ACR/ARHP Annual Meeting
Safety and Efficacy of Rilonacept in Patients with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)
Dawn C. Chapelle Neal¹, Adriana Almeida de Jesus², Yan Huang³, Yin Liu³, Raphaela Goldbach-Mansky³ and Gina Montealegre⁴, ¹National Institutes of Health, NIAMS/NIH, Bethesda, MD, ²Translational Autoinflammatory Disease Section, NIAMS/NIH, Bethesda, MD, ³Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ⁴Office of the Clinical Director, NIAMS/NIH, Bethesda, MD
Background/Purpose: Deficiency of interleukin-1 receptor antagonist (DIRA) is a neonatal-onset autoinflammatory syndrome caused by recessive mutations in IL1RN gene, the gene encoding the interleukin-1-receptor antagonist.…
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…
Abstract Number: 1205 • 2013 ACR/ARHP Annual Meeting
Effectiveness Of Canakinumab In a Cryopyrin-Associated Periodic Syndrome Cohort.A Single Center Experience
Virginia Moreira-Navarrete¹, Francisco Javier Toyos Saenz de Miera², Carmen Vargas Lebrón³ and F. Navarro Sarabia⁴, ¹Rheumatology, University Hospital Virgen Macarena, Sevilla, Spain, ²Hospital Virgen de la Macarena, Sevilla, Spain, ³Hospital Virgen Macarena, SEVILLA, Spain, ⁴Rheumatologist Service, Hospital Universitario Virgen Macarena, Sevilla, Spain
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) comprises a group of rare, but severe, autoinflammatory diseases, characterized by urticaria, periodic fever, central nervous system inflammation, arthropathy, and…
Abstract Number: 1206 • 2013 ACR/ARHP Annual Meeting
Canakinumab Treatment Regimens In CAPS Patients
Ferdinand Hofer¹, Theresa Endres¹, Birgit Kortus-Goetze², Norbert Blank³, Elisabeth Weissbarth-Riedel⁴, Catharina Schuetz⁵, Tilmann Kallinich⁶, Karoline Krause⁷, Christoph Rietschel⁸, Gerd Horneff⁹ and Jasmin B. Kuemmerle-Deschner¹⁰, ¹Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tuebingen, Tuebingen, Germany, ²Klinik für Innere Medizin, Klinikum der Philipps-Universität Marburg, Marburg, Germany, ³University of Heidelberg, Heidelberg, Germany, ⁴Kinderrheumatologische Ambulanz, Universitätsklinikum Eppendorf, Hamburg, Germany, ⁵Klinik für Kinder und Jugendmedizin, Universitätsklinikum Ulm, Ulm, Germany, ⁶Charite, University Medicine Berlin, Berlin, Germany, ⁷Dept. of Dermatology and Allergy, Allergie-Centrum-Charité, Charité – Universitätsmedizin Berlin, Germany, Berlin, Germany, ⁸Kinder- und Jugendrheumatologie, Clementine-Kinderhospital, Frankfurt, Germany, ⁹Department of Pediatrics, Asklepios Klinik Sankt Augustin, Sankt Augustin, Germany, ¹⁰University Hospital Tuebingen, Tuebingen, Germany
Background/Purpose: Canakinumab is a recombinant monoclonal fully human antibody against Interleukin-1β and approved for the treatment of CAPS in many countries including Europe and the…
Abstract Number: 1213 • 2013 ACR/ARHP Annual Meeting
Low-Penetrance NLRP3-Variants
Theresa Endres¹, Ferdinand Hofer¹, Raphaela T. Goldbach-Mansky², Hal M. Hoffman³, Norbert Blank⁴, Karoline Krause⁵, Christoph Rietschel⁶, Gerd Horneff⁷, Peter Lohse⁸ and Jasmin B. Kuemmerle-Deschner⁹, ¹Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tuebingen, Tuebingen, Germany, ²Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ³Division of Allergy, Immunology and Rheumatology, University of California at San Diego, La Jolla, CA, ⁴University of Heidelberg, Heidelberg, Germany, ⁵Dept. of Dermatology and Allergy, Allergie-Centrum-Charité, Charité – Universitätsmedizin Berlin, Germany, Berlin, Germany, ⁶Kinder- und Jugendrheumatologie, Clementine-Kinderhospital, Frankfurt, Germany, ⁷Department of Pediatrics, Asklepios Klinik Sankt Augustin, Sankt Augustin, Germany, ⁸Institut für Laboratoriumsmedizin und Humangenetik, Singen, Germany, ⁹University Hospital Tuebingen, Tuebingen, Germany
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) presents as rare, autosomal dominant disease spectrum, due to mutations in the NLRP3-gene which lead to excessive interleukin-1 (IL-1) release.…
Abstract Number: 1167 • 2013 ACR/ARHP Annual Meeting
A Possible Mechanism Of NLRP3 Inflammasome Hypersensitivity In Cryopyrin-Associated Periodic Syndrome
Sayaka Ito, Chie Tagami, Yukichi Hara and Tetsuo Kubota, Tokyo Medical and Dental University, Tokyo, Japan
Background/Purpose: NLRP3 in monocytes and other cell types plays a role in innate immunity as one of the intracellular pathogen recognition receptors, and its mutation…

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