Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 2431 • 2016 ACR/ARHP Annual Meeting
Characterization of Innate Immune Cells in Patients with the Interferon-Mediated Autoinflammatory Diseases Sting Associated Vasculopathy with Onset in Infancy (SAVI) and Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE)
Bernadette Marrero¹, Yin Liu², Katherine R. Calvo³, Angelique Biancotto⁴, Yan Huang¹, Adriana Almeida de Jesus¹, Gina A. Montealegre Sanchez¹ and Raphaela Goldbach-Mansky⁵, ¹National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ²Scientific Review Branch, NIAMS, NIH, Bethesda, MD, ³Department of Laboratory Medicine, Hematology Section, National Institutes of Health Clinical Center, Bethesda, MD, ⁴Center for Human Immunology, Autoimmunity and Inflammation, NHLBI/NIH, Bethesda, MD, ⁵Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD
Background/Purpose: We recently described two rare autoinflammatory interferonopathies, STING Associated Vasculopathy with Onset in Infancy (SAVI) and Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and…
Abstract Number: 2432 • 2016 ACR/ARHP Annual Meeting
Immune Abnormalities Leading to Exaggerated Production of IFN-Gamma (IFNγ) and the Therapeutic Response to an Anti-IFNγ Antibody in a Patient with NRLC4 Mediated Disease
Claudia Bracaglia¹, Giusi Prencipe², Manuela Pardeo¹, Geneviève Lapeyre³, Emiliano Marasco², Antonella Insalaco¹, Walter Ferlin³, Robert Nelson³, Cristina de Min³ and Fabrizio De Benedetti¹, ¹Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy, Rome, Italy, ²Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy, ³NovImmune S.A., Geneva, Switzerland
Background/Purpose: Animal and human data suggest that IFNγ plays a pathogenic role in HLH. A phase 2 trial with the anti-IFNγ monoclonal antibody NI-0501 in…
Abstract Number: 3208 • 2016 ACR/ARHP Annual Meeting
Preliminary Response to JAK1/2 Inhibition with Baricitinib in “Candle”,“Savi” and “Candle-like” Diseases. a New Therapeutic Approach for Type I IFN Mediated Autoinflammatory Diseases
Gina A. Montealegre Sanchez¹, Adam Reinhardt², Paul Brogan³, Dawn C. Chapelle⁴, Hanna Kim⁴, Samantha Judd⁴, Bahar Kost⁴, Michelle O'Brien⁴, Wendy Goodspeed⁵, Robert A. Colbert⁴, Meryl Waldman⁶, Deborah L. Stone⁷, Ling Gao⁸, JA Dare⁸, Susanne Schalm⁹, Thomas L. Klausmeier¹⁰, Sara Murias¹¹, Yackov Berkun¹², Diane Brown¹³, John D. Carter¹⁴, Fehime K Eroglu¹⁵, A. Zlotogorski¹⁶, Philip Hashkes¹⁷, Helmut Wittkowski¹⁸, Suzanne Ramsey¹⁹, Seza Ozen²⁰, Adriana Almeida de Jesus²¹ and Raphaela Goldbach-Mansky²², ¹NIAID/NIH, Bethesda, MD, ²Rheumatology, Children's Hosp of Omaha/UNMC, Omaha, NE, ³UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ⁴NIAMS/NIH, Bethesda, MD, ⁵Office of the Clinical Director, NIAMS/NIH, Bethesda, MD, ⁶NIDDK/NIH, Bethesda, MD, ⁷NHGRI/NIH, Bethesda, MD, ⁸University of Arkansas for Medical Sciences, Little Rock, AR, ⁹LMU Munich, Munich, Germany, ¹⁰Riley Hospital for Children, Indianapolis, IN, ¹¹Hospital Infantil La Paz, Madrid, Spain, ¹²Hadassah-Hebrew University Medical Center, Jerusalem, Israel, ¹³Children's Hospital Los Angeles, Los Angeles, CA, ¹⁴Division of Rheumatology, University of South Florida, Tampa, FL, ¹⁵Department of Pediatrics, Hacettepe University Hospitals, Ankara, Turkey, ¹⁶Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel, ¹⁷Pediatric Rheumatology, Shaare Zedek Medical Center, Jerusalem, Israel, ¹⁸Pediatrics, University of Muenster, Muenster, Germany, ¹⁹Pediatric Rheumatology, IWK Health Centre, Halifax, NS, Canada, ²⁰Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey, ²¹National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ²²Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD
Background/Purpose: Chronically elevated serum IP-10 (CXCL10) levels, and a prominent “interferon (IFN)-response gene signature” in patients with chronic neutrophilic dermatosis with lipodystrophy and elevated temperatures…
Abstract Number: 112 • 2015 ACR/ARHP Annual Meeting
The Molecular Genetic Analysis of the Autoinflammatory Syndromes in Russian Patients with Manifestation of Systemic Juvenile Idiopathic Arthritis
Ekaterina Alexeeva¹, Alexander Baranov², Kirill Savostyanov², Alexander Pushkov², Tatyana Sleptsova¹, Tatyana Bzarova¹, Saniya Valieva¹, Rina Denisova¹, Kseniya Isayeva¹, Evgeniya Chistyakova¹ and Chomahidze Alexandra¹, ¹Rheumatology, Scientific Center of Children's Health, Moscow, Russia, ²Scientific Center of Children's Health, Moscow, Russia
Background/Purpose: Group of monogenic autoinflammatory syndromes is characterized by recurrent episodes of fever and inflammation. Methods: The study included 90 pts (37 boys, 63 girls)…
Abstract Number: 246 • 2015 ACR/ARHP Annual Meeting
Adult Autoinflammatory Disease Frequency and Our Diagnostic Experience in an Adult Autoinflammatory Clinic
Qingping Yao¹, Felicitas Lacbawan² and Jianbo Li¹, ¹Cleveland Clinic, Cleveland, OH, ²Molecular Genetics Pathology, Cleveland Clinic, Cleveland, OH
Background/Purpose: Autoinflammatory diseases (AIDs), aka, periodic fever syndromes include monogenic diseases, such as familial Mediterranean fever (FMF), cryopyrin-associated periodic disease (CAPS), tumor necrosis factor receptor-associated…
Abstract Number: 248 • 2015 ACR/ARHP Annual Meeting
Efficacy and Safety of Canakinumab in Patients with CAPS Aged <24 Months: Results from an Open-Label, Multicenter, Phase III Trial
Paul Brogan¹, Michaël Hofer², Jasmin B. Kuemmerle-Deschner³, Bernard R. Lauwerys⁴, Antonio Speziale⁵, K. Abrams⁶, Karolynn Leon⁷, Xiaoling Wei⁸ and Ronald Laxer⁹, ¹Department of Paediatric Rheumatology, UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ²Unité Romande de Rhumatologie Pédiatrique, Hospitalier Universitaire Vaudois, Lausanne, Switzerland, ³University Hospital Tuebingen, Tuebingen, Germany, ⁴Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium, ⁵Novartis Pharma AG, Basel, Switzerland, ⁶Novartis Pharmaceutical Corporation, East Hanover, NJ, ⁷Novartis Pharmaceuticals Corporation, East Hanover, NJ, ⁸Novartis Pharma, Beijing, NU, China, ⁹University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Canakinumab (CAN) is indicated for the treatment of cryopyrin-associated periodic syndrome (CAPS) in patients aged ≥2 years.1,2 However, the efficacy of CAN has not…
Abstract Number: 250 • 2015 ACR/ARHP Annual Meeting
Postvaccination Antibody Titer Data in CAPS Patients Aged 28 Days to 4 Years Treated with Canakinumab: Results of an Open-Label Phase 3 Trial
Paul Brogan¹, Michaël Hofer², Jasmin B. Kuemmerle-Deschner³, Bernard R. Lauwerys⁴, Antonio Speziale⁵, Ken Abrams⁶, Karolynn Leon⁶, Xiaoling Wei⁷ and Ronald Laxer⁸, ¹Department of Paediatric Rheumatology, UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ²Unité Romande de Rhumatologie Pédiatrique, Hospitalier Universitaire Vaudois, Lausanne, Switzerland, ³University Hospital Tuebingen, Tuebingen, Germany, ⁴Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium, ⁵Novartis Pharma AG, Basel, Switzerland, ⁶Novartis Pharmaceuticals Corporation, East Hanover, NJ, ⁷Novartis Pharma, Beijing, NU, China, ⁸University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Patients with autoinflammatory diseases treated with immunosuppressive agents reportedly experience an increased risk of serious infections.1 Therefore, these patients are likely candidates for vaccinations,…
Abstract Number: 252 • 2015 ACR/ARHP Annual Meeting
Pyrin (MEFV) Mutations in New York: Revisiting the Mount Sinai Experience with Periodic Fever and Serositis
Daniel Bunker and Mark Matza, Medicine, Mount Sinai Medical Center, New York, NY
Background/Purpose: In 1945, Dr. Sheppard Siegel, a Mount Sinai allergist, described 5 patients with “Benign Paroxysmal Peritonitis,” a disorder now recognized as Familial Mediterranean Fever…
Abstract Number: 937 • 2015 ACR/ARHP Annual Meeting
Safety and Efficacy of Canakinumab in Patients with CAPS: Interim Results from the Beta-Confident Registry
Jasmin B. Kuemmerle-Deschner¹, Hal M. Hoffman², Philip N. Hawkins³, T. van der Poll⁴, Ulrich A. Walker⁵, Antonio Speziale⁶ and Hugh H. Tilson⁷, ¹University Hospital Tuebingen, Tuebingen, Germany, ²Division of Rheumatology, Allergy, and Immunology, University of California at San Deigo, La Jolla, CA, ³University College London Medical School, London, United Kingdom, ⁴Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands, ⁵Rheumatology, University Hospital, Basel, Basel, Switzerland, ⁶Novartis Pharma AG, Basel, Switzerland, ⁷University of North Carolina, Gillings School of Global Public Health, Chapel Hill, NC
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS), is a rare autoinflammatory disease encompassing a spectrum of 3 phenotypes with an estimated population frequency ranging from 1-3 per…
Abstract Number: 1025 • 2015 ACR/ARHP Annual Meeting
Interstitial Lung Disease in Sting-Associated Vasculopathy with Onset in Infancy (SAVI): Genotype-Phenotype Correlation
Louise Malle¹, Bernadette Marrero¹, Yin Liu², Gina A. Montealegre Sanchez¹, Dawn C. Chapelle¹, Hanna Kim^1,3, Michelle O'Brien¹, Suzanne Ramsey⁴, Gregor Dueckers⁵, Seza Ozen^6,7, Helmut Wittkowski⁸, Dirk Föll⁹, Klaus Tenbrock¹⁰, Olcay Y. Jones¹¹, Steven M. Holland¹², Joseph Fontana¹³, Yan Huang¹, Benito Gonzalez¹⁴, Paul Brogan¹⁵, Juergen Brunner¹⁶, Athimalaipet V Ramanan¹⁷, Tom Hilliard¹⁷, Laisa Santiago¹⁸, AnneMarie Brescia¹⁹, Amy Paller²⁰, Stephen Brooks²¹, Zuoming Deng²², Adriana Almeida de Jesus¹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD, ²Scientific Review Branch, NIAMS, NIH, Bethesda, MD, ³Pediatric Rheumatology, Alfred I duPont Hospital for Children, Wilmington, DE, ⁴Pediatric Rheumatology, IWK Health Centre, Halifax, NS, Canada, ⁵Helios Kliniken - Kinderklinik, HELIOS Klinikum Krefeld, Krefeld, Germany, ⁶Paediatric Rheumatology International Trials Organization (PRINTO), Istituto Giannina Gaslini, Genova, Italy, ⁷Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ⁸Pediatrics, University of Muenster, Muenster, Germany, ⁹University of Muenster, Muenster, Germany, ¹⁰University Aachen, Aachen, Germany, ¹¹Rheumatology, George Washington University, Washington, DC, ¹²Laboratory of Clinical Infectious Disease, NIAID, NIH, Bethesda, MD, ¹³NHLBI, NIH, Bethesda, MD, ¹⁴Luis Calvo Mackenna Hospital, Santiago, Chile, ¹⁵UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ¹⁶Universitätsklinik für Kinder- u. Jugendheilkunde, Innsbruck, Austria, ¹⁷Bristol Royal Hospital for Children, Bristol, United Kingdom, ¹⁸All Children's Hospital Rheumatology, Saint Petersburg, FL, ¹⁹Jefferson Medical College/ A.I. Dupont Hospital for Children, Willmington, DE, ²⁰Departments of Dermatology and Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA;, Chicago, IL, ²¹NIAMS/NIH, Bethesda, MD, ²²Biodata Mining & Discovery, NIAMS/NIH, Bethesda, MD
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is an IFN-mediated disease caused by gain-of-function mutations in TMEM173, the gene encoding the stimulator of interferon…
Abstract Number: 1360 • 2015 ACR/ARHP Annual Meeting
Functional Consequences of NOD2 Gene Variants in Patients with NOD2-Associated Autoinflammatory Disease
Christine McDonald¹, Min Shen¹, Amrita Kabi¹, Craig Homer¹ and Qingping Yao², ¹Cleveland Clinic, Cleveland, OH, ²Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH
Background/Purpose: Yao Syndrome (YS) is a systemic autoinflammatory disease formerly termed Nucleotide-binding oligomerization domain 2 (NOD2)-associated AutoInflammatory Disease (NAID) due to its association with specific…
Abstract Number: 1449 • 2015 ACR/ARHP Annual Meeting
The Effect of IL-1 Receptor Antagonist Anakinra (Kineret®) on Measures of Central Nervous System Inflammation and Headaches in Pediatric Patients with Severe Cryopyrin-Associated Periodic Syndromes
Hans Olivecrona¹, Raphaela Goldbach-Mansky², Torbjörn Kullenberg¹ and Mika Leinonen³, ¹Swedish Orphan Biovitrum, Stockholm, Sweden, ²Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD, ³4Pharma AB, Stockholm, Sweden
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: 1453 • 2015 ACR/ARHP Annual Meeting
Surveillance of Periodic Fever Syndromes in Canada
Paul Dancey^1,2, Susanne Benseler³, Marco Gattorno⁴, Anne K Junker⁵, Ronald Laxer⁶, Paivi Miettunen⁷ and Lesley Ann Turner⁸, ¹Health Science Centre, Memorial University of Newfoundland, St Johns, NF, Canada, ²Pediatrics, Janeway Children's Hospital, St. John's, NF, Canada, ³Pediatrics/Alberta Children's Hospital, Department of Pediatrics/University of Calgary, Calgary, AB, Canada, ⁴Pediatry, G. Gaslini Institute, Genova, Italy, ⁵University of British Columbia, Vancouver, BC, Canada, ⁶The Hospital for Sick Children, Toronto, ON, Canada, ⁷University of Calgary, Calgary, AB, Canada, ⁸Memorial University, St. John's, NF, Canada
Background/Purpose: To estimate the incidence of periodic fever syndromes in the Canadian paediatric population, to describe the patterns of presentation, and to raise awareness in…
Abstract Number: 1454 • 2015 ACR/ARHP Annual Meeting
Familial Mediterranean Fever in Childhood: a Single Center Experience
Kenan Barut¹, Ada Bulut Sinoplu², Gozde Yucel³, Gizem Pamuk², Amra Adrovic⁴, Sezgin Sahin⁴ and Ozgur Kasapcopur⁵, ¹Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University., Fellow in Pediatric Rheumatology, Istanbul, Turkey, ²Department of Pediatric Rheumatology, Cerrahpaşa Medical School, Istanbul University., Resident in Pediatrics, Istanbul, Turkey, ³Department of Pediatric Rheumatology, CerrahpaÅŸa Medical School, Istanbul University., Resident in Pediatrics, Istanbul, Turkey, ⁴Department of Pediatric Rheumatology, Cerrahpaşa Medical School, Istanbul University., Fellow in Pediatric Rheumatology, Istanbul, Turkey, ⁵Istanbul University, Cerrahpasa Medical School, Department of Pediatric Rheumatology, Professor of Pediatric Rheumatology, Istanbul, Turkey
Background/Purpose: Familial Mediterranean fever (FMF) is an autosomal recessively inherited autoinflammatory disease which is clinically manifested with periodic episodes of fever, polyserositis and arthritis. The…
Abstract Number: 1484 • 2015 ACR/ARHP Annual Meeting
Development and Validation of Juvenile Autoinflammatory Disease Multidimensional Assessment Report (JAIMAR)
Dilek Konukbay¹, Dilek Yildiz¹, Cengizhan Acikel^2,3, betul sozeri⁴, Balahan Makay⁵, Nuray Aktay Ayaz Sr.⁶, Kenan Barut⁷, Aysenur Kisaarslan⁸, Yelda Bilginer⁹, Harun Peru¹⁰, Ozlem Aydog¹¹, Erbil Unsal¹², Ozgur Kasapcopur¹³, Zubeyde Gunduz⁸, Seza Ozen¹⁴ and Erkan Demirkaya¹⁵, ¹Gulhane Military Medical Faculty, Ankara, Turkey, ²Biostatistics, Gulhane Military Medical Faculty, Ankara, Turkey, ³Department of Bioistatistics, Gulhane Military Medical Academy, Ankara, Turkey, ⁴Pediatric Rheumatology, Ege University Faculty of Medicine, Izmir, Turkey, ⁵Pediatric Rheumatology, Eylul University, Izmir, Turkey, ⁶Pediatric Rheumatology, Istanbul KSS Education and Research Hospital, Istanbul, Turkey, ⁷Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University., Fellow in Pediatric Rheumatology, Istanbul, Turkey, ⁸Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri, Turkey, ⁹Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹⁰Pediatric Rheumatology, Selcuklu Medical Faculty, Konya, Turkey, ¹¹Pediatric Rheumatology, Dr. Sami Ulus Children's Hospital, Ankara, Turkey, ¹²Pediatric Rheumatology, 9 Eylul University Faculty of Medicine, Izmir, Turkey, ¹³Pediatric Rheumatology, Istanbul University Cerrahpasa Medical Faculty, Istanbul, Turkey, ¹⁴Deptartment. of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey, ¹⁵Pediatric Rheumatology, Gulhane Military Medical Academy, FMF Arthritis Vasculitis and Orphan disease Research Center (FAVOR),, Ankara, Turkey
Background/Purpose: There are lots of effects of auto-inflammatory diseases (e.g. pain, fatigue, fear of attack, lifelong drug use, being nervous and angry, problems at school)…

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