Abstracts tagged "Autoinflammatory Disease"

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: 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…
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: 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…

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