ACR Meeting Abstracts

ACR Meeting Abstracts

  • Meetings
    • ACR Convergence 2024
    • ACR Convergence 2023
    • 2023 ACR/ARP PRSYM
    • ACR Convergence 2022
    • ACR Convergence 2021
    • ACR Convergence 2020
    • 2020 ACR/ARP PRSYM
    • 2019 ACR/ARP Annual Meeting
    • 2018-2009 Meetings
    • Download Abstracts
  • Keyword Index
  • Advanced Search
  • Your Favorites
    • Favorites
    • Login
    • View and print all favorites
    • Clear all your favorites
  • ACR Meetings

Abstracts tagged "Autoinflammatory diseases"

  • Abstract Number: 0174 • ACR Convergence 2020

    Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis

    Emily Shuldiner1, Elaine Remmers2, Miranda Marion3, Marc Sudman4, Colleen Satorius5, Patricia Woo6, Sampath Prahalad7, Carl Langefeld8, Susan Thompson9, Wendy Thomson10 and Michael Ombrello11, 1NIAMS, NIH, Bethesda, 2National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, 3Wake Forest School of Medicine, Winston-Salem, 4Cincinnati Children's Hospital Medical Center, Cincinnati, 5NHGRI, NIH, Bethesda, 6Great Ormond Street Hospital, London, United Kingdom, 7Emory + Children's Pediatric Institute, Atlanta, GA, 8Wake Forest School of Medicine, Winston Salem, NC, 9Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH, 10Centre for Genetics and Genomics Versus Arthritis, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, 11Translational Genetics and Genomics Unit, NIAMS, NIH, Bethesda, MD

    Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe, potentially lethal inflammatory condition. It accounts for a disproportionate share of morbidity and mortality among childhood…
  • Abstract Number: 1159 • ACR Convergence 2020

    Novel STING1 Mutations Including in the Transmembrane Linker Region Cause STING-associated Vasculopathy with Onset in Infancy (SAVI)

    Bin Lin1, Dana Kahle1, Adriana Almeida de Jesus1, Sofia Torreggiani2, Jacob Mitchell2, Alexander Aue1, Zheng Ji3, Tengchuan Jin3 and Raphaela Goldbach-Mansky4, 1Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, 2Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, 3University of Science and Technology of China, Hefei, China (People's Republic), 4Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD

    Background/Purpose: STING-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory disease caused by gain-of-function (GOF) mutations in STING1/TMEM173 that encodes stimulator of interferon genes,…
  • Abstract Number: 1953 • ACR Convergence 2020

    Somatic Mutations in a Single Residue of UBA1 Cause VEXAS, a Severe Adult-Onset Rheumatic Disease Presenting as Relapsing Polychondritis, Polyarteritis Nodosa, or Giant Cell Arteritis

    David Beck1, Marcela Ferrada2, Keith Sikora3, Amanda Ombrello4, Daniela Ospina Cardona5, Nicholas Balanda6, Wuhong Pei6, Jason Collins6, Robert Colbert7, Mariana Kaplan8, Massimo Gadina9, Sinisa Savic10, Helen Lachmann11, Kyle Retterer12, Shawn Burgess13, William Gahl6, Achim Werner6, Ivona Aksentijevich14, Neal S. Young6, Katherine R. Calvo6, Peter C. Grayson15 and Daniel Kastner16, 1National Human Genome Research Institute, Bethesda, 2Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 3National Institutes of Health Clinical Center, Bethesda, MD, 4National Human Genome Research Institute/National Institutes of Health, Bethesda, MD, 5National Institute of Health, Bethesda, 6National Institutes of Health, Bethesda, 7Pediatric Clinical Trials Unit and Office of Clinical Director, NIAMS, NIH, Bethesda, MD, 8National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, 9National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, 10University of Leeds, England, United Kingdom, 11National Amyloidosis CenterRoyal Free Campus, Rowland Hill St, London, United Kingdom, 12GeneDX, Gaithersburg, 13National Institutes of Health, Bethesda, MD, 14National Human Genome Research Institute, Bethesda, MD, 15Systemic Autoimmunity Branch, National Institutes of Health, NIAMS, Bethesda, MD, 16National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD

    Background/Purpose: Identifying the causes of adult-onset rheumatic diseases remains a challenge, and limits diagnosis, prognosis, and targeted treatment. We hypothesized that mutations in genes regulating…
  • Abstract Number: 0176 • ACR Convergence 2020

    Characterization and Molecular Mechanism Underlying NEMO Deleted Exon 5 Autoinflammatory Syndrome (NDAS)

    Alex Wessel1, Younglang Lee2, Eries Lee3, Jiazhi Xu4, Somin Kim5, Amy Hsu6, Jevgenia Rudenko7, Clinton Enos8, Stephen Brooks3, Zuoming Deng9, Bin Lin10, Daniel Hupalo11, Adriana Almeida de Jesus12, Daniela Piotto13, Maria Teresa Terreri14, Victoria Dimitriades15, Dalgard Clifton11, Steven Holland16, Raphaela Goldbach-Mansky17, Richard Siegel18 and Eric Hanson19, 1Washington University St. Louis, St. Louis, 2PUsan National University, Pusan, Republic of Korea, 3NIAMS, NIH, Bethesda, 4Indiana University School of Medicine, Indianapolis, 5Emory University, Atlanta, 6NIAID, NIH, Bethesda, 7OHSU, Portland, 8Eastern Virginia Medical School, Norfolk, 9National Institute of Arthritis Musculoskeletal and Skin diseases, Bethesda, 10Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, 116The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, 12Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, 137Escola Paulista de Medicina/Universidade Federal de São Paulo, Sao Paolo, Brazil, 14Federal University of São Paulo, São Paulo, Brazil, 15Division of Infectious Diseases, Immunology & Allergy University of California Davis Health, Sacramento, 16Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases, Bethesda, 17NIH, Bethesda, 18Novartis Institutes for BioMedical Research, Basel, Switzerland, 19Riley Hospital for Children, IUSM, Indianapolis, IN

    Background/Purpose: The NF-kB essential modulator (NEMO) is a scaffolding protein with a broad immune cell and tissue expression profile. Hypomorphic mutations in IKBKG encoding NEMO…
  • Abstract Number: 1160 • ACR Convergence 2020

    Treatment Intensity and Impact on Bone Lesion Evolution and Distribution Patterns in Severe Chronic Recurrent Multifocal Osteomyelitis

    Aleksander Lenert1, T. Shawn Sato2, Sedat G Kandemirli1, Patrick Ten Eyck1 and Polly Ferguson3, 1University of Iowa, Iowa City, IA, 2University of Iowa, Iowa City, 3University of Iowa Carver College of Medicine, Iowa City, IA

    Background/Purpose: To compare bone lesion evolution and bone lesion distribution patterns identified by whole body magnetic resonance imaging (WB-MRI) by treatment intensity in patients with…
  • Abstract Number: 0282 • ACR Convergence 2020

    Expression of the cGAMP Transporter SLC19A1 Is Altered in Systemic Lupus Erythematosus

    Jeong Min Yu1, Gantsetseg Tumurkhuu2, Erica Montano2, Gabriela de los Santos2, Daniel J Wallace2, Mariko Ishimori3 and Caroline Jefferies1, 1Cedars-Sinai Medical Center, West Hollywood, CA, 2Cedars-Sinai Medical Center, Los Angeles, 3Cedars-Sinai Medical Center, Los Angeles, CA

    Background/Purpose: Inappropriate sensing of nucleic acids leading to enhanced type I interferon (IFN) induction is a hallmark of SLE, contributing to breakdown of immune tolerance…
  • Abstract Number: 1161 • ACR Convergence 2020

    Perspectives of Radiologist Physicians in the Imaging of Chronic Nonbacterial Osteomyelitis

    Farzana Nuruzzaman1, Mingqian Huang2, Christian Hedrich3, Hermann Girschick4, Julie Cherian5, T. Shawn Sato6, Karen Onel7, Polly Ferguson8 and Yongdong Zhao9, 1Stony Brook Children's Hospital, Stony Brook, NY, 2Mount Sinai Hospital, 10003, NY, 3University of Liverpool, Liverpool, United Kingdom, 4Vivantes Children’s Hospital, Wuerzburg, Germany, 5Stony Brook Children�s Hospital, Stony Brook, NY, 6University of Iowa, Iowa City, 7Pediatric Rheumatology, Hospital for Special Surgery, New York, NY, 8University of Iowa Carver College of Medicine, Iowa City, IA, 9University of Washington, Seattle, WA

    Background/Purpose: Radiological imaging is integral to the diagnosis of chronic nonbacterial osteomyelitis (CNO) and has been included as a central component in suggested diagnostic criteria…
  • Abstract Number: 0453 • ACR Convergence 2020

    Monitoring of BK Reactivation and Long-term Safety on JAK1/2 Inhibition with Baricitinib

    Kader Cetin Gedik1, Gema Souto Adeva2, Jenna Wade1, Gina Montealegre Sanchez3, Adriana de Jesus4 and Raphaela Goldbach-Mansky5, 1Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, 2Translational Autoinflammatory Disease Section (TADS)/NIAID/ NIH, Bethesda, 3Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Rockville, MD, 4Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, 5Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD

    Background/Purpose: Baricitinib has been used to treat pediatric patients (pts) with Type 1 Interferonopathies1. Safety profile including BK viral reactivation in urothelium and pharmacokinetic model…
  • Abstract Number: 1163 • ACR Convergence 2020

    Predictors of Colchicine Response in Patients with Undefined Systemic Autoinflammatory Diseases

    Mariana Correia Marques1, Edwin Anderson1, Kathryn Williams2, Jonathan Hausmann3 and Fatma Dedeoglu4, 1Boston Children`s Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, 2Biostatistics and Research Design Center ICCTR Boston Children`s Hospital, Boston, MA, 3Boston Children’s Hospital, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, 4Boston Children's Hospital, Boston, MA

    Background/Purpose: Systemic autoinflammatory diseases (SAIDs) result from dysregulation of the innate immune system. Many patients with SAIDs have specific mutations that lead to the release…
  • Abstract Number: 0461 • ACR Convergence 2020

    High-Throughput Single-Cell Analysis Reveals Unique Lung Cellular Subsets in a Murine Model of Rheumatoid Arthritis-Inflammatory Lung Disease

    Rohit Gaurav1, Ted Mikuls1, Geoffrey Thiele1, Amy Nelson1, Meng Niu1, Chittibabu Guda1, James Eudy1, Austin Barry1, Debra Romberger1, Michael Duryee1, Bryant England1 and Jill Poole1, 1University of Nebraska Medical Center, Omaha, NE

    Background/Purpose: Rheumatoid arthritis (RA)-associated inflammatory lung disease is an extra-articular manifestation of RA associated with increased morbidity and mortality, whose precise molecular mechanisms remain undetermined.…
  • Abstract Number: 1164 • ACR Convergence 2020

    Frequency of Genetic Diagnosis in an Autoinflammatory Disease Natural History Protocol Cohort of Patients

    Katelin R. Honer1, Kim Johnson1, Gema Souto Adeva1, Gina Montealegre Sanchez2, Jenna Wade3, Jacob Mitchell1, Katherine Townsend3, Adriana de Jesus4 and Raphaela Goldbach-Mansky5, 1Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, 2Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Rockville, MD, 3Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, 4Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, 5Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD

    Background/Purpose: Monogenic autoinflammatory diseases (AID) are caused by innate immune dysregulation resulting in systemic inflammation and variable organ-specific clinical manifestations. The Translational Autoinflammatory Disease Section…
  • Abstract Number: 0068 • ACR Convergence 2020

    Single Cell RNA-seq to Characterize Monocyte Subtypes in the Autoinflammatory Interferonopathy, SAVI and the Inflammasomopathy, NOMID

    Ying Zhang1, Bernadette Marrero2, Adriana de Jesus3, Sara Alehashemi4, Jinguo Chen5, Rongye Shi6, Huizhi Zhou6, Clifton Dalgard7, Manfred Boehm8 and Raphaela Goldbach-Mansky9, 1Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, 2Computational Systems Biology Section/NIAID/NIH, Bethesda, MD, 3Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, 4Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, 5Molecular Immunology Section, National Eye Institute, National Institutes of Health, Bethesda, MD, 6Molecular Immunology Section, National Eye Institute, National Institutes of Health, Bethesda, 7Department of Anatomy, Physiology and Genetics, Uniformed Services University of Health Sciences, Bethesda, 8Center for Molecular Medicine, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, 9Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD

    Background/Purpose: Monocytes are pivotal producers of key inflammatory cytokines that drive autoinflammatory diseases. In SAVI, constitutive STING activation causes chronic activation with increased type-I IFN…
  • Abstract Number: 0471 • ACR Convergence 2020

    Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients

    Adriana de Jesus1, Sofia Torreggiani2, Bin Lin2, Jacob Mitchell2, Eric Karlins3, Andrew Oler3, Sara Alehashemi4, Dana Kahle5, Katelin R. Honer2, Gema Souto Adeva2, Eric Hanson6, Gina Montealegre Sanchez7, Amer Khojah8, Timothy Moran9, Eveline Wu9, Chris Scott10, Timothy Ronan Leahy11, Emma Jane MacDermott11, Orla Killeen12, Thaschawee Arkachaisri13, Zoran Gucev14, Kathryn Phillippi15, Vafa Mammadova16, Gulnara Nasrullayeva16 and Raphaela Goldbach-Mansky17, 1Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, 2Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, 3Bioinformatics and Computational Biosciences Branch/NIAID/NIH, Bethesda, MD, 4Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, 5Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, 6Indiana University School of Medicine, Indianapolis, IN, 7NIAID/NIH, Rockville, MD, 8Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 9UNC Chapel Hill, Chapel Hill, NC, 10University of Cape Town, Cape Town, South Africa, 11Our Lady's Children's Hospital, Dublin, Ireland, 12National Centre for Paediatric Rheumatology, CHI at Crumlin, Dublin, Ireland, 13Duke-NUS Medical School, Singapore, Singapore, 14University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, 15Akron Children’s Hospital, Akron, OH, 16Azerbaijan Medical University, Baku, Azerbaijan, 17Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD

    Background/Purpose: The Inhibitor of Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) is located on the X chromosome and encodes the NF-κB essential modulator (NEMO). Loss-of-function mutations…
  • Abstract Number: 1323 • ACR Convergence 2020

    Pregnancy in Axial Spondyloarthropathy: A Systematic Review & Meta-Analysis

    Sinead Maguire1, Tom O'Dwyer2, Fiona Wilson3, David Mockler3 and Finbar O'Shea1, 1St James' Hospital, Dublin, Ireland, 2Independent Researcher, Dublin, Ireland, 3Trinity College Dublin, Dublin, Ireland

    Background/Purpose: Axial spondyloarthropathy (axSpA) is an inflammatory arthritis affecting the sacroiliac joints and the spine. Although this chronic condition affects a wide range of ages,…
  • Abstract Number: 0078 • ACR Convergence 2020

    Retrospective Analysis of Clinical Characteristics and Classification Criteria Performance in a Single Center Cohort of 114 Patients Diagnosed with IgG4-Related Disease

    Robert Spandorfer1, Madiha Ahmad2 and Arezou Khosroshahi3, 1Emory University School of Medicine, Atlanta, GA, 2Emory University, Decatur, 3Emory University, Atlanta, GA

    Background/Purpose: Immunoglobulin G4 Related Disease (IgG4-RD) is a fibroinflammatory condition that can involve almost any organ system. Diagnosis is made based on correlation of clinical,…
  • « Previous Page
  • 1
  • …
  • 16
  • 17
  • 18
  • 19
  • 20
  • Next Page »
Advanced Search

Your Favorites

You can save and print a list of your favorite abstracts during your browser session by clicking the “Favorite” button at the bottom of any abstract. View your favorites »

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, 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 of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].

Wiley

  • Online Journal
  • Privacy Policy
  • Permissions Policies
  • Cookie Preferences

© Copyright 2025 American College of Rheumatology