Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 947 • 2019 ACR/ARP Annual Meeting
TNF Inhibitor Treatment and Dramatic Stroke Risk Reduction in Patients with Deficiency of Adenosine Deaminase 2
Ryan Laird¹, Patrycja Hoffmann ², Karyl Barron ², Deborah Stone ², Michele Nehrebecky ³, Anne Jones ², Tina Romeo ², Camilo Toro ³, Arianne Soldatos ⁴, Cornelia Cudrici ³, Daniel Kastner ² and Amanda Ombrello ², ¹National Institues of Health, Bethesda, ²National Institutes of Health, Bethesda, MD, ³National Institutes of Health, Bethesda, ⁴NIH/NINDS, Bethesda
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease caused by biallelic loss-of-function mutations in the ADA2 gene . Over 60 pathogenic…
Abstract Number: 1244 • 2019 ACR/ARP Annual Meeting
Tocilizumab – An Effective Rescue Therapy for Refractory Unclassified Autoinflammatory Diseases in Children
Jasmin B. Kuemmerle-Deschner¹, Daniel Sturm ¹ and Susanne Benseler ², ¹University Hospital Tuebingen, Tuebingen, Germany, ²Alberta Childrens Hospital Research Institute, Calgary, Canada
Background/Purpose: Evidence based treatment options for children and adults with unclassified autoinflammatory diseases (AID) are limited. Frequently, IL-1-inhibition is primarily tried to control the severe…
Abstract Number: 1254 • 2019 ACR/ARP Annual Meeting
A Retrospective Medical Chart Review of Patients with Periodic Fever Syndromes Initiating Canakinumab in the United States
Peter Hur¹, Kathleen G. Lomax ¹, Raluca Ionescu-Ittu ², Ameur M. Manceur ², Jipan Xie ³, Jordan Cammarota ⁴, Navneet Sanghera ⁵ and Alexei A. Grom ⁶, ¹Novartis Pharmaceuticals Corporation, East Hanover, NJ, ²Analysis Group, Inc., Montreal, QC, Canada, ³Analysis Group, Inc., Los Angeles, CA, ⁴Analysis Group Inc.,, Washington, DC, ⁵Novartis Pharmaceuticals Corporations, East Hanover, NJ, ⁶Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Periodic fever syndromes (PFS) is a group of rare autoinflammatory diseases that includes cryopyrin-associated periodic syndromes (CAPS), hyperimmunoglobulin D syndrome/mevalonate kinase deficiency (HIDS/MKD), TNF…
Abstract Number: 1266 • 2019 ACR/ARP Annual Meeting
AGBL3 as a Novel Gene Associated with Hereditary Hypocomplementemic Urticarial Vasculitis and Favorable Response to Rituximab
Ahmet Gul¹, Nesllihan Abaci ² and Sema Sirma-Ekmekci ², ¹Department of Internal Medicine, Division of Rheumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, Istanbul, Turkey, ²Department of Genetics, Istanbul University Institute for Experimental Medical Research, Istanbul, Turkey, Istanbul, Turkey
Background/Purpose: Urticarial skin lesions are well-known features of autoinflammatory disorders associated with NLRP3 and NLRP12 variants. However hereditary forms of hypocomplementemic urticarial vasculitis (HUV) with…
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: 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…
Abstract Number: 2863 • 2018 ACR/ARHP Annual Meeting
Long-Term Efficacy and Safety of Canakinumab in Patients with Colchicine-Resistant FMF (crFMF), Hids/Mkd and TRAPS: Results from the Pivotal Phase 3 Cluster Trial
Fabrizio De Benedetti¹, Joost Frenkel², Anna Simon³, Jordi Anton⁴, Helen J. Lachmann⁵, Marco Gattorno⁶, Seza Ozen⁷, Isabelle Koné-Paut⁸, Eldad Ben-Chetrit⁹, Magdalena Wozniak¹⁰, Xiaoling Wei¹¹ and Eleni Vritzali¹², ¹IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy, ²University Medical Center,Utrecht, Utrecht, Netherlands, ³General Internal Medicine, Radboud University, Nijmegen Medical Centre, Nijmegen, Netherlands, ⁴Unitat de Reumatologia Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain, ⁵UCL Division of Medicine, UK National Amyloidosis Centre, London, United Kingdom, ⁶Pediatric Division, G Gaslini Institute, Genoa, Italy, ⁷Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ⁸APHP, CHU de Bicêtre, University of Paris SUD, Paris, France, ⁹Rheumatology Unit, Hadassah—Hebrew University Medical Center, Jerusalem, Israel, ¹⁰Novartis Ireland Ltd, Dublin, Ireland, ¹¹China Novartis Institutes for Biomedical Research Co., Ltd, Beijing, China, ¹²Novartis Pharma AG, Basel, Switzerland
Background/Purpose: Canakinumab (CAN), a selective, human anti-interleukin (IL)-1β has demonstrated efficacy and safety in patients (pts) with colchicine-resistant familial Mediterranean fever (crFMF), hyper-IgD syndrome (HIDS)/mevalonate…
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…

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