Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0045 • ACR Convergence 2021
Endothelial Cells from Patients with DMARD Naïve, Active Inflammatory Arthritis Demonstrate Pro-inflammatory Sensitisation That Is Reversed by Therapy Initiation
Robert Maughan¹, Marie Lang¹, Anton Olsson¹, Andrew Porter¹, Antonia Greeves², Taryn Youngstein³, Charis Pericleous¹ and Justin Mason¹, ¹Imperial College London, London, United Kingdom, ²Hammersmith Hospital, London, United Kingdom, ³Hammersmith Hospital & Imperial College London, London, United Kingdom
Background/Purpose: Inflammatory arthritides (IA) including rheumatoid arthritis are associated with increased cardiovascular disease (CVD) mortality. Although inflammation-driven endothelial dysfunction is considered a major factor, the…
Abstract Number: 1104 • ACR Convergence 2021
Pathogenic UBA1 Variants in Japanese Patients with Relapsing Polychondritis
Naomi Tsuchida¹, Yosuke Kunishita², Yuri Uchiyama¹, Yohei Kirino³, Kaoru Takase-Minegishi¹, Ryusuke Yoshimi¹, Hideaki Nakajima¹ and Naomichi Matsumoto¹, ¹Yokohama City University Graduate School of Medicine, Yokohama, Japan, ²Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan, ³Yokohama City University, Yokohama, Japan
Background/Purpose: Pathogenic somatic variants in the ubiquitin like modifier activating enzyme 1 gene (UBA1) were discovered in individuals with systemic inflammation of cartilage, skin, and…
Abstract Number: 1707 • ACR Convergence 2021
A Bioengineered Probiotic for the Oral Delivery of an Immunomodulator in Rheumatoid Arthritis
Yuqing Wang¹, Duolong Zhu¹, Laura Ortiz-Velez², Jacob Perry¹, Michael Pennington³, Joseph Hyser¹, Robert Britton¹ and Christine Beeton¹, ¹Baylor College of Medicine, Houston, TX, ²TMC Innovation, Houton, ³AmbioPharm Inc., North Augusta, SC
Background/Purpose: CCR7- effector memory T (TEM) lymphocytes are targets for immunomodulation for the treatment of rheumatoid arthritis (RA). Following activation, TEM cells upregulate the expression…
Abstract Number: 0162 • ACR Convergence 2021
Cardiac Magnetic Resonance Imaging for Guiding Decision-making on Treatment Duration: Data from RHAPSODY, a Phase 3 Clinical Trial of Rilonacept in Recurrent Pericarditis
Paul Cremer¹, David Lin², Alistair Wheeler³, Antonio Abbate⁴, Antonio Brucato⁵, Fang Fang⁶, Antonella Insalaco⁷, Martin LeWinter⁸, Basil S. Lewis⁹, Sushil A. Luis¹⁰, Stephen J. Nicholls¹¹, John Petersen¹², Allan Klein¹, Massimo Imazio¹³ and John F Paolini⁶, ¹Department of Cardiovascular Imaging, Center for the Diagnosis and Treatment of Pericardial Diseases, Heart and Vascular Institute, Cleveland Clinic, Cleveland, OH, ²Minneapolis Heart Institute at Abbott Northwestern Hospital, Minneapolis, MN, ³Kiniksa Pharmaceuticals, Ltd., Hamilton, Bermuda, ⁴VCU Pauley Heart Center, Virginia Commonwealth University, Richmond, VA, ⁵Department of Biomedical and Clinical Science, University of Milano, Fatebenefratelli Hospital, Milan, Italy, ⁶Kiniksa Pharmaceuticals Corp., Lexington, MA, ⁷Department of Pediatric Medicine, Division of Rheumatology, Bambino Gesù Children's Hospital, Rome, Italy, ⁸Cardiology Unit, The University of Vermont Medical Center, The University of Vermont, Burlington, VT, ⁹Cardiovascular Clinical Research Institute, Lady Davis Carmel Medical Center, Haifa, Israel, ¹⁰Division of Cardiovascular Ultrasound, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, NY, ¹¹MonashHeart, Department of Cardiology, Monash University, Clayton, Australia, ¹²Swedish Medical Center, Seattle, WA, ¹³University Cardiology, Cardiovascular and Thoracic Department, AOU Città della Salute e della Scienza di Torino, Torino, Italy
Background/Purpose: The magnitude of pericardial delayed hyperenhancement (DHE) by cardiac magnetic resonance imaging (CMR) illustrates the severity of inflammation in pericarditis. We hypothesized that patients…
Abstract Number: 1105 • ACR Convergence 2021
Discovering Variants in Suspected Monogenic Systemic Inflammatory Disease: An Adult Case Series
Jason An¹, Madeline Couse¹, Dilan Dissanayake², Daniela Dominguez², Ronald Laxer¹, Christian Marshall¹, Johannes Roth³, Robert Rottapel⁴ and Linda Hiraki², ¹SickKids, Toronto, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³University of Ottawa, Ottawa, ON, Canada, ⁴St Michael's Hospital, Toronto, ON, Canada
Background/Purpose: Monogenic systemic inflammatory diseases (MSID) are a heterogeneous group of rare conditions caused by single gene variants leading to immune dysregulation. Diagnostic yield of…
Abstract Number: 1769 • ACR Convergence 2021
BMS-986256, an Oral Novel Toll-like Receptor 7 and 8 (TLR7/8) Inhibitor, Does Not Affect the Pharmacokinetics of Mycophenolate Mofetil in Healthy Subjects
Manoj Chiney¹, Ihab Girgis², Melanie Harrison¹, Xiaoping Zhang¹, Yun Shen³, Michelle Dawes¹, Lixian Dong², Diane Shevell³, Urvi Aras¹ and Bindu Murthy³, ¹Bristol Myers Squibb, Lawrenceville, NJ, ²Bristol Myers Squibb, Princeton, NJ, ³Bristol Myers Squibb, Lawrenceville
Background/Purpose: Toll like receptor (TLR) 7 and TLR8 are activated as part of the disease pathophysiology of systemic lupus erythematosus (SLE), including lupus nephritis (LN),…
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,…
Abstract Number: 0559 • ACR Convergence 2020
Low Frequency of ANA/DFS70 Pattern Positive Result in a Large Cohort of Autoimmune/autoinflammatory Diseases Compared with First Degree Relatives and Healthy Controls Evaluated in a Single Hospital from Colombia
Consuelo Romero-Sanchez¹, Omar-Javier Calixto², Veronica Romero², Diana Rincon Riano³, Julio Amador², Luis Castro², Pedro Lopez-Mojica⁴, Daniela Marin², Diana Àcero⁵, Monica Acevedo⁵, Wilson Bautista-Molano⁶ and Juan Manuel Bello-Gualtero⁷, ¹Hospital Militar Central, Rheumatology and Immunology Department, Universidad Militar Nueva Granada / Clinical Immunology Group, Hospital Militar Central, School of Medicine, Universidad Militar Nueva Granada /Universidad El Bosque, Cellular and Molecular Immunology Group -InmuBo-, School of Dentistry, Bogotá D.C., Colombia, ²Hospital Militar Central, Universidad Militar Nueva Granada, Bogota, Colombia, ³Universidad Militar Nueva Granada, Bogota, Colombia, ⁴Hospital Militar Central, Universidad Militar Nueva Granada, BOGOTA, Distrito Capital de Bogota, Colombia, ⁵Hospital Militar Central, Bogota, Colombia, ⁶University Hospital Fundación Santa Fé de Bogotá and Universidad El Bosque, Bogotá, Colombia, ⁷Hospital Militar Central, Rheumatology and Immunology Department, Universidad Militar Nueva Granada/ Clinical Immunology Group, Hospital Militar Central, School of Medicine, Universidad Militar Nueva Granada, Bogotá D.C., Colombia
Background/Purpose: Autoimmune systemic rheumatic disease (SARD) diagnostic approach is complex and recently there are some diagnostic tools to rule-out autoimmune disease diagnoses. ANAS/DFS70 antibodies have…
Abstract Number: 1412 • ACR Convergence 2020
A T Cell Intrinsic Role for Nod2 in Suppression of Th17-Mediated Experimental Arthritis and Uveitis: Implications for Blau Syndrome
Ruth Napier¹, Ellen Lee¹, Emily Vance¹, Sydney Lashley², Luke Uebelhoer³, Christina Lancioni³, Richard Vehe⁴, Bryce Binstadt⁴, Rachel Caspi⁵ and Holly Rosenzweig¹, ¹Oregon Health & Science University and VA Portland Health Care System, Portland, OR, ²VA Portland Health Care System, Portland, OR, ³Oregon Health & Science University, Portland, ⁴University of Minnesota, Minneapolis, MN, ⁵NIH, Bethesda, MD
Background/Purpose: Mutations in nucleotide-binding oligomerization domain-containing protein 2 (NOD2) cause Blau syndrome, an inflammatory disorder characterized by uveitis, dermatitis, and polyarthritis. The antimicrobial functions of NOD2 are…
Abstract Number: 0082 • ACR Convergence 2020
Diffuse Sclerosing Osteomyelitis of the Jaw: An Underdiagnosed Disease in Maxillofacial Surgery Department
Pauline Preuss¹, Hélios Bertin¹, Pierre Corre¹ and Benoit Le Goff², ¹Nantes University Hospital, Nantes, France, ²Nantes University Hospital, Nantes, Pays de la Loire, France
Background/Purpose: Diffuse sclerosing osteomyelitis of the jaw is a rare and under-recognized disease. Many authors include this diagnosis in the spectrum of aseptic osteitis sometimes…

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