Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 2433 • 2015 ACR/ARHP Annual Meeting
Anti Interferon-Gamma (IFNg) Monoclonal Antibody Treatment in a Child with NLRC4-Related Disease and Severe Hemophagocytic Lymphohistiocytosis (HLH)
Claudia Bracaglia¹, Giusi Prencipe¹, Antonio Gatto², Manuela Pardeo¹, Geneviève Lapeyre³, Luigi Raganelli¹, Emiliano Marasco², Antonella Insalaco², Walter Ferlin³, Robert Nelson³, Cristina de Min³ and Fabrizio De Benedetti¹, ¹Department of Pediatric Medicine, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, ²Pediatric Medicine, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, ³NovImmune S.A., Geneva, Switzerland
Background/Purpose: Animal and humans data suggest that IFNγ plays a pathogenic role in HLH. A pilot trial in primary HLH with NI-0501, an anti-IFNγ monoclonal…
Abstract Number: 2465 • 2015 ACR/ARHP Annual Meeting
Cytokine Profile Comparison of Monogenic and Complex Conditions with Interferon-Regulated Gene Signatures in Chronic Atypical Neutrophilic Dermatosis with Lipodsytrophy and Elevated Temperature (CANDLE), SAVI, Aicardi-Goutieres Syndrome, JDM, and SLE
Hanna Kim¹, Yin Liu², Adriana Almeida de Jesus¹, Robert Wesley³, Yan Huang¹, Gina A. Montealegre Sanchez¹, Dawn C. Chapelle¹, Wanxia L. Tsai⁴, Massimo G. Gadina⁴, Frederick W. Miller⁵, Sarfaraz Hasni⁶, Adeline Vanderver⁷, Lisa G Rider⁵ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD, ²Scientific Review Branch, NIAMS, NIH, Bethesda, MD, ³Clinical Center, National Institutes of Health, Bethesda, MD, ⁴Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ⁵Environmental Autoimmunity Group, NIEHS, NIH, Bethesda, MD, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁷Pediatric Neurology, Children's National Medical Center, Washington, DC
Background/Purpose: An Interferon (IFN) Regulated Gene Signature (IRS) was previously reported in patients with two complex autoimmune diseases, juvenile systemic lupus (JSLE)1 and juvenile dermatomyositis…
Abstract Number: 3093 • 2015 ACR/ARHP Annual Meeting
Development and Validation of Diagnostic Criteria for Cryopyrin Associated Periodic Syndromes
Jasmin B. Kuemmerle-Deschner¹, Seza Ozen², Pascal N. Tyrrell³, Isabelle Koné-Paut⁴, Raphaela Goldbach-Mansky⁵, Helen Lachmann⁶, Norbert Blank⁷, Hal M. Hoffman⁸, Elisabeth Weissbarth-Riedel⁹, Boris Huegle¹⁰, Tilmann Kallinich¹¹, Marco Gattorno¹², Ahmet Gul¹³, Nienke M. ter Haar¹⁴, Marlen Oswald¹⁵, Fatma Dedeoglu¹⁶ and Susanne M. Benseler¹⁷, ¹Universitätsklinikum Tübingen, Klinik fuer Kinder- und Jugendmedizin, Tübingen, Germany, ²Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ³Department of Medical Imaging, University of Toronto, Toronto, ON, Canada, ⁴Pediatrics Rheumatology, CHU Bicêtre, Le Kremlin Bicêtre, France, ⁵Bldg10 rooom 6D47-B, NIH | NIAMS, Bethesda, MD, ⁶UK National Amyloidosis Centre, University College London Medical School, London, United Kingdom, ⁷Med 5-Rheumatology, University of Heidelberg, Heidelberg, Germany, ⁸University of California at San Diego, San Diego, CA, ⁹Rheumatology, Pediatrics, Universitaetskinderklinik Hamburg, Hamburg, Germany, ¹⁰Pediatric Rheumatology, German Center for Pediatric and Adolescent Rheumatology, Garmisch-Partenkirchen, Germany, ¹¹Charite, University Medicine Berlin, Berlin, Germany, ¹²Pediatry, G. Gaslini Institute, Genova, Italy, ¹³Department of Internal Medicine, Rheumatology Division, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ¹⁴Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ¹⁵University Hospital Tuebingen, Tuebingen, Germany, ¹⁶Division of Immunology, Boston Children's Hospital, Boston, MA, ¹⁷Rheumatology, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada
Background/Purpose: Cryopyrin Associated Periodic Syndromes (CAPS) are a rare, clinically heterogeneous group of devastating inflammatory illnesses. NLRP3gene gain-of function mutations result in unceasingly raised IL1…
Abstract Number: 3094 • 2015 ACR/ARHP Annual Meeting
Dose Adjustment of Anakinra (Kineret®) Based on Clinical Response in Patients with Severe Cryopyrin-Associated Periodic Syndromes
Bengt Hallen¹, Torbjörn Kullenberg¹, Mika Leinonen², Margareta Wiken¹, Raphaela Goldbach-Mansky³ and Hans Olivecrona¹, ¹Swedish Orphan Biovitrum, Stockholm, Sweden, ²4Pharma AB, Stockholm, Sweden, ³Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD
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: 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…
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…

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