Abstracts tagged "Autoinflammatory Disease"

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)…
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…
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…

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