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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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. Academic institutions, private organizations and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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