ACR Meeting Abstracts

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Abstracts tagged "Autoinflammatory Disease"

  • Abstract Number: 1768 • 2019 ACR/ARP Annual Meeting

    A First-in-class Selective and Potent IRAK4 Degrader Demonstrates Robust in Vitro and in Vivo Inhibition of TLR/IL-1R Activation and Inflammation

    Veronica Campbell1, Joseph Kelleher 1, Jesse Chen 1, Jared Gollob 2, Nan Ji 2, Christine Klaus 2, Christine Loh 2, Michelle mayo 2, Alice McDonald 2, Haojing Rong 2, Scott Rusin 2, Kirti Sharma 2, Matt Weiss 2, Karen Yuan 2, Duncan Walker 2, Xiaozhang Zheng 2, Anthony Slavin 2 and Nello Mainolfi 2, 1Kymera Therapeutics, cambridge, MA, 2Kymera Therapeutics, Cambridge

    Background/Purpose: IL-1R/TLR activation plays a central role in the pathophysiology of multiple autoimmune and inflammatory diseases driven by the IL-1 family of cytokines and by…
  • Abstract Number: 2156 • 2019 ACR/ARP Annual Meeting

    Expanding the Phenotypic and Genotypic Spectrum in Yao Syndrome

    Qingping Yao1 and Apostolos Kontzias 1, 1Stony Brook University, Stony Brook, NY

    Background/Purpose: Yao syndrome (YAOS, OMIM 617321), formerly termed nucleotide-binding, oligomerization domain 2(NOD2)-associated autoinflammatory disease, has become increasingly recognized. The disease has been reported in America,…
  • Abstract Number: 2698 • 2019 ACR/ARP Annual Meeting

    Reasons for Initiation of Canakinumab of Patients with Systemic Juvenile Idiopathic Arthritis: A Retrospective Medical Chart Review from the United States

    Peter Hur1, Raluca Ionescu-Ittu 2, Ameur M. Manceur 2, Kathleen G. Lomax 1, Jordan Cammarota 3, Jipan Xie 4, Navneet Sanghera 5 and Alexei A. Grom 6, 1Novartis Pharmaceuticals Corporation, East Hanover, NJ, 2Analysis Group, Inc., Montreal, QC, Canada, 3Analysis Group Inc.,, Washington, DC, 4Analysis Group, Inc., Los Angeles, CA, 5Novartis Pharmaceuticals Corporations, East Hanover, NJ, 6Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) is a rare autoinflammatory disease characterized by fever and arthritis, often accompanied by rash. Canakinumab (CAN) was approved in…
  • Abstract Number: 2903 • 2019 ACR/ARP Annual Meeting

    Cryopyrin-Associated Periodic Syndrome Treated with Canakinumab – Long-Term Follow-up Data Documents Sustained Safety and Remission

    Jasmin Kuemmerle-Deschner1, Norbert Blank 2, Michael Borte 3, Ivan Foeldvari 4, Gerd Horneff 5, Prasad Thomas Oommen 6, Catharina Schuetz 7, Frank Weller-Heinemann 8, Julia Weber-Arden 9 and Tilmann Kallinich 10, 1University Hospital Tuebingen, Pediatric Department, Tuebingen, Germany, 2Rheumatology, University Hospital Heidelberg, Germany, Heidelberg, Germany, 33ImmunoDeficiencyCenter Leipzig (IDCL), Hospital St. Georg gGmbH Leipzig, Germany, Leipzig, Germany, 4Hamburg Centre for Pediatric and Adolescence Rheumatology, Hamburg, Germany, 5Asklepios Clinic Sankt Augustin, Sankt Augustin, Germany, 6Clinic of Pediatric Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Düsseldorf, Duesseldorrf, Germany, 7Department of Pediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany, Dreaden, Germany, 8Prof. Hess Kinderklinik, Bremen, Germany, Bremen, Germany, 9Novartis Pharma GmbH Germany, Nuremberg, Germany, 10Charite, Berlin, Germany

    Background/Purpose: Targeting the interleukin(IL)-1 pathway with anti-IL-1 drugs is a treatment option in patients with autoinflammatory diseases like monogenic periodic fever syndromes. The study aims…
  • Abstract Number: 772 • 2019 ACR/ARP Annual Meeting

    The Study of the Novel G87V Mutation in the TNFRSF1A Gene Identified in a Family with TNF Receptor-Associated Periodic Syndrome (TRAPS)

    Shoko Tsuji1, Hidenori Matsuzaki 2, Masanori Iseki 3, Akiko Nagasu 1, Hiroyasu Hirano 1, Katsuhiko Ishihara 4, Naoyasu Ueda 5, Yoshitaka Honda 6, Takahiko Horiuchi 7, Ryuta Nishikomori 8, Yoshitaka Morita 1 and Tomoyuki Mukai 9, 1Department of Rheumatology, Kawasaki Medical School, Kurashiki, Okayama, Japan, 2Department of Life Sciences, Faculty of Life and Environmental Sciences, Prefectural University of Hiroshima, shobara, Hiroshima, Japan, 3Department of Immunology and Molecular Genetics, Kawasaki Medical School, Kurashiki, Okayama, Japan, 4Department of Immunology and Molecular Genetics, Kurashiki, Okayama, Japan, 5Department of Internal Medicine, Miyazaki Prefectural Miyazaki Hospital, Miyazaki, Japan, 6Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan, 7Department of Internal Medicine, Kyushu University Beppu Hospital, Beppu, Japan, Beppu, Japan, 8Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan, 9Department of Rheumatology, Kawasaki medical School, Kurashiki, Okayama, Okayama, Japan

    Background/Purpose: TNF Receptor-Associated Periodic Syndrome (TRAPS) is one of the autoinflammatory diseases. TRAPS is caused by heterozygous mutations in the TNFRSF1A gene. Although more than…
  • Abstract Number: 799 • 2019 ACR/ARP Annual Meeting

    Application of the Autoinflammatory Disease Activity Index (ADDI) to a Cohort of Patients in a Tertiary Hospital

    Mireia Lopez-corbeto1 and Estefania Moreno Ruzafa 1, 1Hospital Universitari Vall d'Hebron, Barcelona, Spain

    Background/Purpose: Autoinflammatory diseases (AIDs) cause chronic systemic inflammation that can damage multiple organs. Recently, the ADDI index has been developed and validated in the four…
  • Abstract Number: 926 • 2018 ACR/ARHP Annual Meeting

    Truncating Mutations in SAMD9L Cause an Early-Onset Immune-Dysregulatory Syndrome of Neutrophilic Panniculitis, Interstitial Lung Disease and Cytopenias

    Adriana Almeida de Jesus1, Bernadette Marrero1, Gina A. Montealegre Sanchez1, Jon (Sandy) Burnham2, Alice Chan3, Yuriy Stepanovskiy4, Angela Rösen-Wolff5, Christian Hedrich6, MinAe Lee-Kirsch5, Joseph A. Duncan7, Jin Yao Mo7, Liliana Bezrodnik8, Gisela Seminario8, Maria Soledad Caldirola8, Eric Allenspach9, Troy R. Torgerson10, Laura Finn11, Rachel VanTries1, Yan Huang1, Stephen R. Brooks12, Zuoming Deng13 and Raphaela Goldbach-Mansky1, 1Translational Autoinflammatory Disease Section (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, 2Pediatric Rheumatology, Children's Hospital of Philadelphia, Philadelphia, PA, 3Pediatrics, UCSF, San Francisco, CA, 4Shupyk National Academy of Postgraduate Education, Kyiv, Ukraine, 5Children's Hospital Dresden, Dresden, Germany, 6Pediatric Rheumatology and Immunology, Children's Hospital Dresden, Dresden, Germany, 7University of North Carolina School of Medicine, Chapel Hill, NC, 8Center of Clinical Immunology, Buenos Aires, Argentina, 9Immunology/Rheumatology, Seattle Children's Research Institute, Seattle, WA, 10Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, 11University of Washington and Seattle Children's Hospital, Seattle, WA, 12Biodata Mining and Discovery Section, Office of Science and Technology, NIAMS/NIH, Bethesda, MD, 13NIAMS/NIH, Bethesda, MD

    Background/Purpose: The Sterile Alpha Motif Domain Containing 9 Like protein that is encoded by SAMD9L plays a role in endosome fusion, and deletions (haploinsufficiency) of…
  • Abstract Number: 1321 • 2018 ACR/ARHP Annual Meeting

    Clinical and Genetic Analysis of the Patients Mimicking Familial Mediterranean Fever

    Dai Kishida1, Yasuhiro Shimojima2 and Yoshiki Sekijima1, 1Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan, 2Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan

    Clinical and genetic analysis of the patients mimicking familial Mediterranean feverBackground/Purpose: Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by recurrent episodes of fever…
  • Abstract Number: 1412 • 2018 ACR/ARHP Annual Meeting

    A Systematic Literature Review of Efficacy and Safety of Current Therapies for the Treatment of Hyperimmunoglobulinemia D Syndrome and TNF Receptor-Associated Periodic Syndrome

    Jasmin B. Kuemmerle-Deschner1, Raju Gautam2, Aneesh Thomas George2, Syed Raza2, Kathleen Graham Lomax3 and Peter Hur3, 1Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital, Tuebingen, Germany, Tuebingen, Germany, 2Novartis Healthcare Pvt. Ltd., Hyderabad, India, Hyderabad, India, 3Novartis Pharmaceuticals Corporation, East Hanover, New Jersey, USA, East Hanover, NJ

    Background/Purpose: Hyperimmunoglobulinemia D syndrome (HIDS), also known as mevalonate kinase deficiency (MKD), and TNF receptor-associated periodic syndrome (TRAPS) are rare auto-inflammatory diseases grouped as periodic…
  • Abstract Number: 1415 • 2018 ACR/ARHP Annual Meeting

    Emapalumab, an Anti-Interferon Gamma Monoclonal Antibody in Two Patients with NLRC4-Related Disease and Severe Hemophagocytic Lymphohistiocytosis (HLH)

    Claudia Bracaglia1, Giusi Prencipe1, Antonella Insalaco1, Ivan Caiello2, Giulia Marucci1, Raffaele Pecoraro3, Manuela Pardeo1, Pavla Dolezalova4, Sarka Fingerhutova4, Maria Ballabio5, Cristina de Min5 and Fabrizio De Benedetti6, 1Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, 2Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy, 3Pediatric Department, La Sapienza University of Rome, Rome, Italy, 4Paediatric Rheumatology Unit, General University Hospital in Prague and 1st Faculty of Medicine, Charles University, General University Hospital in Prague and 1st Faculty of Medicine, Prague, Czech Republic, 5NovImmune S.A., Geneva, Switzerland, 6IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy

    Background/Purpose: Interferon gamma (IFNγ) plays a pathogenic role in primary and secondary HLH. An ongoing phase 2/3 trial with emapalumab in primary HLH provides encouraging…
  • Abstract Number: 1426 • 2018 ACR/ARHP Annual Meeting

    The Utilization of S100 Proteins Testing in Pediatric Rheumatology Patients in a Tertiary Care Institution and Implications for Care

    Najla Aljaberi1, Angela Merritt2, Alexei Grom1, Grant Schulert3, Jennifer L. Huggins4, Michael Henrickson5 and Hermine I. Brunner1, 1Pediatric Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 2Pediatric Rheumatology, Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 3Rheumatology, Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 4Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 5Cincinnati Children’s Medical Center, Cincinnati, OH

    Background/Purpose: S100 proteins are calcium-binding proteins of increasing value as biomarkers in various inflammatory conditions (e.g. autoinflammatory diseases, vasculitides, inflammatory bowel disease). The two highly…
  • Abstract Number: 1911 • 2018 ACR/ARHP Annual Meeting

    The Expanding Clinical Spectrum of Patients with Deficiency of Adenosine Deaminase 2 (DADA2)

    Karyl Barron1, Amanda Ombrello2, Deborah Stone2, Patrycja M. Hoffmann2, Tina Romeo2, Anne Jones3, Natalia Sampaio Moura2, Oskar Schnappauf2, Ivona Aksentijevich3, Jenna Bergerson1, Ariane Soldatos4, Camilo Toro3, Theo Heller5, Jennifer Kanakry6, Katherine R Calvo7 and Daniel Kastner3, 1National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 2NHGRI, National Institutes of Health, Bethesda, MD, 3National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 4NINDS, National Institutes of Health, Bethesda, MD, 5NIDDK, National Institutes of Health, Bethesda, MD, 6NCI, National Institutes of Health, Bethesda, MD, 7CC/DLM, National Institutes of Health, Bethesda, MD

    Background/Purpose: The deficiency of adenosine deaminase 2 (DADA2) was initially described in 2014 in 2 reports: one emphasizing early-onset lacunar strokes, livedoid rash and intermittent…
  • Abstract Number: 2023 • 2018 ACR/ARHP Annual Meeting

    Different Patterns of Interferon-Response-Gene Expression May Elucidate Different Pathomechanisms That Drive IFN-Response-Gene Activation in Patients with Presumed IFN-Mediated Autoinflammatory Diseases

    Adriana Almeida de Jesus1, Yanfeng Hou2, Louise Malle3, Scott Canna4, Gina A. Montealegre Sanchez1, Hanna Kim5, Rachel VanTries1, Seza Ozen6, Samantha Dill7, Dawn C. Chapelle7, Bernadette Marrero1, Yan Huang1, Angelique Biancotto8 and Raphaela Goldbach-Mansky1, 1Translational Autoinflammatory Disease Section (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, 2Department of Rheumatology, Shandong Provincial Qianfoshan Hospital, Shandong University, Shandong, China, 3Icahn School of Medicine at Mount Sinai, New York, NY, 4RK Mellon Institute for Pediatric Research, University of Pittsburgh/Children's Hospital of Pittsburgh of UPMC, Pittsburrgh, PA, 5Pediatric Translational Research Branch, NIAMS, NIH, Bethesda, MD, 6Hacettepe University Vasculitis Center (HUVAC), Ankara, Turkey, 7Pediatric Translational Research Branch, NIAMS/NIH, Bethesda, MD, 8Center for Human Immunology Autoimmunity and Inflammation (CHI), NIAID, NIH, Bethesda, MD

    Background/Purpose: Many infants and children with early-onset autoinflammatory diseases are mutation-negative for genetically known autoinflammatory diseases. Recent data suggest a role for Type-I interferon dysregulation…
  • Abstract Number: 2279 • 2018 ACR/ARHP Annual Meeting

    Therapeutic Value of Canakinumab in Patients with Yao Syndrome

    Qingping Yao, Rheumatology, Allergy and Immunology, Stony Brook University Hospital, Stony Brook, NY; Rheumatology, Allergy, and Immunology, Stony Brook University School of Medicine, Stony Brook, NY

    Background/Purpose: Yao syndrome (YAOS, OMIM 617321), formerly termed nucleotide-binding, oligomerization domain 2(NOD2)-associated autoinflammatory disease, is characterized by periodic fever, dermatitis, arthritis, and swelling of the…
  • Abstract Number: 2855 • 2018 ACR/ARHP Annual Meeting

    Expanding the Phenotype: New Variant in the IL1RN-Gene Associated with Late Onset and Atypical Presentation of Dira

    Jasmin B. Kuemmerle-Deschner1, Konstanze Hoertnagel2, Susanne Schlipf3, Sandra Hansmann4, Toni Hospach5, Ilias Tsiflikas6, Xiao Liu7, Susanne Benseler8 and Alexander Weber7, 1Department of Pediatrics, Division of Rheumatology, University Hospital Tuebingen, Germany, Tuebingen, Germany, 2Praxis für Humangenetik Tübingen,Tuebingen, Germany, Tuebingen, Germany, 3Kinderarztpraxis Dr. Lakner, Schwäbisch Gmünd, Germany, Schwäbisch Gmünd, Germany, 4Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tuebingen, Tuebingen, Germany, Tuebingen, Germany, 5Pediatrics, Olgahospital, Klinikum Stuttgart, Stuttgart, Germany, 6Division of Pediatric Radiology, Department of Radiology, University Hospital Tuebingen, Germany, Tuebingen, Germany, 7Department of Immunology, University of Tübingen, Tübingen, Germany, Tuebingen, Germany, 8Rheumatology, Department of Paediatrics, Alberta Children's Hospital, University of Calgary, Alberta, Canada, Calgary, AB, Canada

    Background/Purpose: Deficiency of the Interleukin-1 receptor antagonist (DIRA) is an autoinflammatory disease of infancy characterized by severe systemic inflammation with bone and skin involvement. This…
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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. Academic institutions, private organizations and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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