Abstracts tagged "Muckle-Wells syndrome"

Abstract Number: 256 • 2016 ACR/ARHP Annual Meeting
Muckle-Wells Syndrome in Chinese Adult Patients
Di Wu, Min Shen and Xiaofeng Zeng, Rheumatology, Peking Union Medical College Hospital, Beijing, China
Background/Purpose: Muckle-Wells syndrome (MWS) is a rare autoinflammatory disease, which is categorized as one of the three cryopyrin-associated periodic syndromes (CAPS). MWS is characterized by…
Abstract Number: 247 • 2015 ACR/ARHP Annual Meeting
Severe Inflammation Following Vaccination Against Streptococcus Pneumoniae in Patients with Cryopyrin-Associated Periodic Syndromes
Ulrich A. Walker^1,2, Philip N. Hawkins³, Rene Williams⁴, Hal M. Hoffman⁵ and Jasmin B. Kuemmerle-Deschner⁶, ¹Rheumatology, Unispital Basel, Basel, Switzerland, ²Rheumatology, University Hospital, Basel, Basel, Switzerland, ³University College London Medical School, London, United Kingdom, ⁴University College, London, England, ⁵University of California at San Diego, San Diego, CA, ⁶Universitätsklinikum Tübingen, Klinik fuer Kinder- und Jugendmedizin, Tübingen, Germany
Background/Purpose: Pneumococcal vaccination is recommended for patients requiring treatment with immunosuppressive drugs. The aim of this report is to describe unusually severe adverse reactions to…
Abstract Number: 2280 • 2014 ACR/ARHP Annual Meeting
Evidence Based Recommendations for the Management of Cryopyrin Associated Periodic Syndromes (CAPS)
Nienke ter Haar¹, Marlen Oswald², Luca Cantarini³, Marco Gattorno⁴, Michael Hofer⁵, Isabelle Kone-Paut⁶, Jordi Anton Lopez⁷, Karyl Barron⁸, Paul Brogan⁹, Joost Frenkel¹⁰, Caroline Galeotti¹¹, Gilles Grateau¹², Veronique Hentgen¹³, Tilmann Kallinich¹⁴, Helen Lachmann¹⁵, Huri Ozdogan¹⁶, Seza Ozen¹⁷, Ricardo Russo¹⁸, Anna Simon¹⁹, Yosef Uziel²⁰, Carine Wouters²¹, Brian Feldman²², Bas Vastert¹⁰, Nico Wulffraat²³, Susanne Benseler²⁴ and Jasmin Kuemmerle-Deschner²⁵, ¹Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ²University Hospital Tuebingen, Tuebingen, Germany, ³University of Siena, Siena, Italy, ⁴Pediatric Rheumatology, Instituto Giannina Gaslini, Genoa, Italy, ⁵Centre Multisite Romand de Rhumatologie Pediatrique, Lausanne, Switzerland, ⁶Department of Pediatric Rheumatology, Reference Centre for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Paris, France, ⁷pediatric Rheumatology, University Childrenxs Hospital, Barcelona, Spain, ⁸NIH, Bethesda, MD, ⁹Rheumatology Unit, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom, ¹⁰University Medical Center Utrecht, Utrecht, Netherlands, ¹¹Bicêtre Hospital, University of Paris SUD, Paris, France, ¹²Service De Médecine Interne, Hopital Tenon, Paris, France, ¹³Versailles Hospital, Le Chesnay Cedex, France, ¹⁴Charite, University Medicine Berlin, Berlin, Germany, ¹⁵UK National Amyloidosis Centre, University College London Medical School, London, United Kingdom, ¹⁶Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey, ¹⁷Hacettepe University, Ankara, Turkey, ¹⁸Immunology & Rheumatology, Hospital De Pediatria, Buenos Aires, Argentina, ¹⁹Radboudumc, Nijmegen, Netherlands, ²⁰Tel-Aviv University, Sackler School of Medicine, Tel-Aviv, Israel, ²¹University of Leuven, Laboratory of Pediatric Immunology, University Hospital Leuven, Leuven, Belgium, ²²Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ²³Paediatric Immunology and Rheumatology, University Medical Center Utrecht, Utrecht, Netherlands, ²⁴The Hospital for Sick Children, Toronto, ON, Canada, ²⁵Pediatrics, University Hospital Tuebingen, Tuebingen, Germany
Background/Purpose Cryopyrin-associated periodic syndromes (CAPS) is a group of rare monogenetic autoinflammatory disorders. Evidence-based guidelines are lacking and management is mostly based on physician’s experience. Consequently,…
Abstract Number: 1227 • 2014 ACR/ARHP Annual Meeting
Cryopyrinopathy with a Myeloid-Specific NLRP3 Mutation
Patrycja Hoffmann¹, Qing Zhou², Amanda Ombrello³, Anne Jones³, Beverly Barham³, Ivona Aksentijevich¹ and Daniel L. Kastner⁴, ¹Inflammatory Diseases Section, National Human Genome Research Institute, Bethesda, MD, ²10 Centre Dr., Rm. B3-4129, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³Inflammatory Diseases Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁴Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD
Background/Purpose To identify the cause of disease in an adult patient who presented with recurrent fevers and urticaria which responded to IL-1 inhibition with anakinra.…
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: 191 • 2012 ACR/ARHP Annual Meeting
Analysis of Genes Involved in Autoinflammatory Diseases in Adult Onset Still’s Disease
Emma Garcia-Melchor¹, Dolors Grados², Eva Gonzalez-Roca¹, Elena Riera³, Manel Juan¹, Jordi Yagüe¹, Juan Ignacio Aróstegui¹, Javier Narváez⁴ and Alejandro Olivé⁵, ¹Immunology Department, Hospital Clinic Barcelona, Barcelona, Spain, ²Rheumatology Department, Hospital Universitario Germans Trias i Pujol, Badalona, Spain, ³Rheumatology Department, Hospital Mutua de Terrassa, Terrassa, Spain, ⁴Rheumatology Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain, ⁵Rheumatology, Hospital Universitario Germans Trias i Pujol, Badalona, Spain
Background/Purpose: Adult Onset Still’s Disease (AOSD) is a systemic inflammatory disease characterized by fever, skin rash, articular involvement, lymphadenopathy, hepatosplenomegaly and serositis. Due to the…
Abstract Number: 180 • 2012 ACR/ARHP Annual Meeting
Safety of Canakinumab in a Large Cohort of Patients with Cryopyrin-Associated Periodic Syndrome: Results From the ß-Confident Registry
H. Hoffman¹, J. B. Kuemmerle-Deschner², P. Hawkins³, T. van der Poll⁴, Ulrich A. Walker⁵, B. Rauer⁶, J. M. Nebesky⁶ and H. Tilson⁷, ¹University of California at San Diego, San Diego, CA, ²Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ³University College London Medical School, London, United Kingdom, ⁴Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands, ⁵Rheumatology, Universitäts-Poliklinik, Felix-Platter Spital, Basel, Switzerland, ⁶Novartis Pharma AG, Basel, Switzerland, ⁷The University of North Carolina Gillings School of Global Public Health, Chapel Hill, North Carolina
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) is an extremely rare autoinflammatory disorder associated with overproduction of interleukin-1β (IL-1β). Canakinumab, a fully human, selective, anti-IL-1β monoclonal antibody,…

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