Abstracts tagged "Autoinflammatory Disease"

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: 1896 • 2014 ACR/ARHP Annual Meeting
Validation of a Novel IFN-Regulated Gene Score As Biomarker in Chronic Atypical Neutrophilic Dermatosis with Lipdoystrophy and Elevated Temperature (CANDLE) Patients on Baricitinib, a Janus Kinase 1 /2 Inhibitor, a Proof of Concept
Hanna Kim¹, Steve Brooks², Yin Liu¹, Adriana Almeida de Jesus³, Gina A. Montealegre Sanchez¹, Dawn C. Chapelle¹, Nicole Plass¹, Yan Huang¹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ²NIAMS/NIH, Bethesda, MD, ³Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD
Background/Purpose CANDLE syndrome is a novel autoinflammatory disease with strong IFN response signature. We hypothesize that IFN dysregulation may drive clinical manifestations in CANDLE and…
Abstract Number: 1898 • 2014 ACR/ARHP Annual Meeting
Identification of “autoinflammatory interferonopathies”? a New Class of Autoinflammatory Conditions?
Adriana Almeida de Jesus¹, Zuoming Deng², Stephen Brooks³, Yin Liu⁴, Hanna Kim⁴, Gina A. Montealegre Sanchez⁴, Dawn C. Chapelle⁴, Yan Huang⁴, Philip Hashkes⁵, Gulnara Nasrullayeva⁶, Maria Teresa Terreri⁷, Bita Arabshahi⁸, Marilynn G. Punaro⁹, Lakshmi N. Moorthy¹⁰, Adam Reinhardt¹¹, Clovis A. Silva¹², Emilia I. Sato¹³, Vibke Lilleby¹⁴, Thomas Fleisher¹⁵ and Raphaela Goldbach-Mansky⁴, ¹Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ²Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ³NIAMS/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ⁵Pediatric Rheumatology, Shaare Zedek Medical Center, Jerusalem, Israel, ⁶Head Immunology Department, Azerbaijan Medical University, Baku, Azerbaijan, ⁷University of Federal De Sao Paulo, Sao Paulo, Brazil, ⁸Pediatric Rheumatology, Inova Fairfax Hospital for Children, Fairfax, VA, ⁹Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, ¹⁰Pediatric Rheumatology, Robert Wood Johnson Medical School-Rutgers University, New Brunswick, NJ, ¹¹Pediatric Rheumatology, Children's Specialty Physicians, Omaha, NE, ¹²Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, ¹³Rheumatology Div/Dept of Med, Escola Paulista de Medicina - Universidade Federal de São Paulo, Sao Paulo, Brazil, ¹⁴Department of Rheumatology, Oslo University Hospital, Rikshospitalet, Oslo, Norway, ¹⁵Chief Department of Laboratory Medicine, National Institutes of Health, Bethesda, MD
Background/Purpose The role of IL-1 in the pathogenesis of many of the monogenic autoinflammatory diseases is clinically validated by the response to IL-1 blocking therapies.…
Abstract Number: 1817 • 2014 ACR/ARHP Annual Meeting
Connecting Two Pathways through Ca²⁺ Signaling: NLRP3 Inflammasome Activation Induced By a Hypermorphic PLCG2 Mutation
Jae Jin Chae¹, Yong Hwan Park¹, Chung Park², Il-Young Hwang², Patrycja Hoffmann³, John Kehrl², Ivona Aksentijevich³ and Daniel L. Kastner⁴, ¹Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, Bethesda, MD, ³Inflammatory Diseases Section, National Human Genome Research Institute, Bethesda, MD, ⁴Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD
Background/Purpose Previously, we reported that a novel variant, p.Ser707Tyr, in phospholipase Cγ2 (PLCγ2) is the cause of a dominantly inherited autoinflammatory disease, APLAID (autoinflammation and…
Abstract Number: 1226 • 2014 ACR/ARHP Annual Meeting
Studying Patients with Autoinflammatory Diseases: The Past, Present, and a Perspective for the Future
Jonathan S. Hausmann^1,2, Catherine Biggs³, Donald P. Goldsmith⁴ and Fatma Dedeoglu^1,5, ¹Rheumatology, Boston Children's Hospital, Boston, MA, ²Rheumatology, Beth Israel Deaconess Medical Center, Boston, MA, ³Program in Rheumatology, Divison of Immunoloty, Boston Children's Hospital, Boston, MA, ⁴Pediatric Rheumaology, St Christopher's Hospital for Children/ Drexel College of Medicine, Philadelphia, PA, ⁵on behalf of CARRAnet Investigators, Palo Alto, CA
Background/Purpose: Autoinflammatory diseases (AIDs) are uncommon disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Because of their rarity, finding large numbers of patients…
Abstract Number: 1225 • 2014 ACR/ARHP Annual Meeting
Clinical Presentation and Cytokine Production Abnormalities in a Cohort of Patients Carrying NLRP12 GENE Variants
Antonella Insalaco¹, Luigi Raganelli², Manuela Pardeo², Virginia Messia², Denise Pires Marafon², Francesca Romana Lepri³, Elisa Pisaneschi³, Claudia Bracaglia⁴, Valeria Gerloni⁵, Rebecca Nicolai², Elisabetta Cortis⁶, Fabrizio De Benedetti Sr.⁴ and Giusi Prencipe⁴, ¹Department of Pediatric Medicine,, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, ²Division of Rheumatology, Department of Pediatric Medicine, Ospedale Pediatrico Bambino Gesù, IRCCS, Roma, Italy, ³Cytogenetics, Ospedale Pediatrico Bambino Gesù, IRCCS, Roma, Italy, ⁴Department of Pediatric Medicine, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, ⁵Pediatric Rheumatology Unit, Department of Rheumatology, Istituto Ortopedico Gaetano Pini, Milano, Italy, ⁶Division of Pediatric, Santa Maria della Stella Hospital, Orvieto, Italy
Background/Purpose: The NLRP12 related autoinflammatory disorder (NLRP12-RD) is a rare autosomal dominant disease,caused by mutations in the NLRP12 gene.Clinical manifestations are extremely heterogeneous.We describe clinical…
Abstract Number: 1233 • 2014 ACR/ARHP Annual Meeting
Tocilizumab (TCZ) in the Treatment of AA Amyloidosis in Patients with Familial Mediterranean Fever
Huri Ozdogan, Serdal Ugurlu, Aysa Hacioglu, Yasaman Adibnia and Vedat Hamuryudan, Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey
Background/Purpose: AA amyloidosis is the major long-term complication of various chronic inflammatory diseases like rheumatoid arthritis, ankylosing spondylitis, FMF and other autoinflammatory syndromes. Treatment of…
Abstract Number: 1232 • 2014 ACR/ARHP Annual Meeting
Canakinumab Therapy in Patients with Familial Mediterranean Fever
Serdal Ugurlu, Emire Seyahi, Gulen Hatemi, Aysa Hacioglu, Fatma Nihan Akkoc and Huri Ozdogan, Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey
Background/Purpose: According to a recent pilot study Canakinumab reduced the frequency of attacks in 9 patients with Familial Mediterranean Fever (FMF) resistant to colchicine with no…
Abstract Number: 1231 • 2014 ACR/ARHP Annual Meeting
Evidence Based Recommendations for Genetic Diagnosis of Familial Mediterranean Fever
Gabriella Giancane¹, Nienke ter Haar², Nico Wulffraat³, Bas Vastert⁴, Karyl Barron⁵, Veronique Hentgen⁶, Tilmann Kallinich⁷, Huri Ozdogan⁸, Jordi Anton⁹, Paul Brogan¹⁰, Luca Cantarini¹¹, Joost Frenkel⁴, Caroline Galeotti¹², Marco Gattorno¹³, Gilles Grateau¹⁴, Michael Hofer¹⁵, Isabelle Kone-Paut¹⁶, J B. Kuemmerle-Deschner¹⁷, Helen Lachmann¹⁸, Anna Simon¹⁹, Brian Feldman²⁰, Yosef Uziel²¹ and Seza Ozen²², ¹Pediatric Immunology, UMC, Utrecht, Netherlands, Utrecht, Netherlands, ²Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ³Pediatric rheumatology, Wilhelmina Children's Hospital/ UMC Utrecht, Utrecht, Netherlands, ⁴University Medical Center Utrecht, Utrecht, Netherlands, ⁵NIH, Bethesda, MD, ⁶Versailles Hospital, Le Chesnay Cedex, France, ⁷Charite, University Medicine Berlin, Berlin, Germany, ⁸Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey, ⁹Pediatric Rheumatology Unit. Hospital Sant Joan de Déu. Universitat de Barcelona, Barcelona, Spain, ¹⁰Rheumatology Unit, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom, ¹¹University of Siena, Siena, Italy, ¹²Bicêtre Hospital, University of Paris SUD, Paris, France, ¹³Istituto Giannina Gaslini, Genova, Italy, ¹⁴Service De Médecine Interne, Hopital Tenon, Paris, France, ¹⁵Centre Multisite Romand de Rhumatologie Pediatrique, Lausanne, Switzerland, ¹⁶Department of Pediatric Rheumatology, Reference Centre for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Paris, France, ¹⁷Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ¹⁸UK National Amyloidosis Centre, University College London Medical School, London, United Kingdom, ¹⁹Radboudumc, Nijmegen, Netherlands, ²⁰Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ²¹Tel-Aviv University, Sackler School of Medicine, Tel-Aviv, Israel, ²²Deptartment. of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is a disease that starts in childhood and can lead to significant morbidity. In 2013, an initiative called SHARE (Single…
Abstract Number: 931 • 2014 ACR/ARHP Annual Meeting
Response to Canakinumab Treatment Is Maintained in Systemic Juvenile Idiopathic Arthritis Patients
N.M. Wulffraat^1,2, N. Ruperto², H.I. Brunner³, S. Oliveira², Y. Uziel², K. Nistala², R. Cimaz², M. Ferrandiz², B. Flato², M.L. Gamir², I. Koné-Paut², C. Gaillez⁴, K. Lheritier⁴, K. Abrams⁵, A. Martini² and D.J. Lovell³, ¹Pediatric Rheumatology, UMC Utrecht, Utrecht, Netherlands, ²PRINTO-Istituto Gaslini, Genova, Italy, ³PRCSG, Cincinnati, OH, ⁴Novartis Pharma AG, Basel, Switzerland, ⁵Novartis Pharmaceuticals Corporation, East Hanover, NJ
Background/Purpose: Canakinumab, a selective, human, anti-interleukin (IL) -1β monoclonal antibody, is approved for the treatment of systemic juvenile idiopathic arthritis (SJIA) patients (≥ 2 years…
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…

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