Abstracts tagged "innate immunity"

Abstract Number: 1156 • ACR Convergence 2020
Comparison of Immunological Biomarkers and Lung Histology in Patients with Elevated IL18 – Pulmonary Alveolar Proteinosis and Recurrent Macrophage Activation Syndrome (IL-18PAP-MAS) and Other Inflammatory Lung Diseases
Alhanouf Alsaleem¹, Adriana de Jesus², Sofia Torreggiani³, Chyi-Chia Lee⁴, Les Folio⁵, Huy Do⁶, Andrew Oler⁷, Caroline Kim³, Stewart Levine⁸, Anthony Suffredini⁹, Cem Gabay¹⁰, Joseph Fontana¹¹, Scott Canna¹² and Raphaela Goldbach-Mansky¹³, ¹Division of Pediatric Rheumatology, Department of pediatrics, King Faisal specialist hospital and research center, Riyadh, Saudi Arabia, RiYADH, Saudi Arabia, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ³Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ⁴Pathology Department/NCI/NIH, Bethesda, MD, ⁵Radiology and Imaging Services/NIH, Bethesda, MD, ⁶Radiology and Imaging Sciences, Bethesda, MD, ⁷Bioinformatics and Computational Biosciences Branch/NIAID/NIH, Bethesda, MD, ⁸Laboratory of Asthma and Lung Inflammation, Division of Intramural Research, NHLBI, NIH,, Bethesda, MD, ⁹Critical Care Medicine Department, Clinical Center, NIH, Bethesda, MD, ¹⁰University Hospitals of Geneva, Geneva, Switzerland, ¹¹NHLBI/NIH, Bethesda, MD, ¹²University of PIttsburgh, Pittsburgh, PA, ¹³Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: Recently, pulmonary alveolar proteinosis (PAP) and recurrent macrophage activation syndrome (MAS) have been reported in rare patients (pts) with systemic juvenile idiopathic arthritis (SJIA)…
Abstract Number: 1217 • ACR Convergence 2020
Effects of JAK Inhibitors Against JAK2-mediated Signaling in Innate Immune Cells
Yuya Fujita¹, Naoki Matsuoka¹, Makiko Furuya-Yashiro², Jumpei Temmoku², Yuki Kuroiwa³, Masaru Tanaka⁴, Tomoyuki Asano², Shuzo Sato⁵, Haruki Matsumoto², Hiroshi Watanabe², Hideko Kuzuru⁶, Hiroshi Yatsuhashi⁷, Atsushi Kawakami⁸ and Kiyoshi Migita⁹, ¹Fukushima Medical University School of Medicine, Department of Rheumatology, Fukushima, Fukushima, Japan, ²Fukushima Medical University School of Medicine, Department of Rheumatology, Fukushima, Japan, ³Eli Lilly Japan K.K., Tokyo, ⁴Eli Lilly Japan K.K., Tokyo, Japan, ⁵Fukushima Medical University School of Medicine, Department of Rheumatology, Fukushima, Japan, ⁶NHO Nagasaki Medical Center, Clinical Research Center, Omura, Japan, ⁷NHO Nagasaki Medical Center, Clinical Research Center, Omura, Nagasaki, Japan, ⁸Nagasaki University Graduate School of Biomedical Sciences, Unit of Advanced Preventive Medical Sciences, Department of Immunology and Rheumatology, Nagasaki, Nagasaki, Japan, ⁹Fukushima Medical University School of Medicine, Department of Rheumatology, Fukushima, Fukushima, Japan
Background/Purpose: Janus kinase (JAK) family is comprised of JAK1, JAK2, JAK3 and tyrosine kinase 2 (TYK2). JAKs form homo- or hetero-complexes, the combination of which…
Abstract Number: 1455 • ACR Convergence 2020
Functional Characterization of PLCG2 Mutations Found in Subjects with Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) Reveals Both Hypermorphic and Hypomorphic Mutants
Kathleen Baysac¹, Charles Fisher², Hiroto Nakano², Joshua Milner³ and Michael Ombrello⁴, ¹NIAMS, NIH, Bethesda, MD, ²NIAMS, NIH, Bethesda, ³Division of Allergy, Immunology and Rheumatology Columbia University Medical Center, New York, NY, ⁴Translational Genetics and Genomics Unit, NIAMS, NIH, Bethesda, MD
Background/Purpose: PLCG2-associated antibody deficiency and immune dysregulation (PLAID) and autoinflammatory PLAID (APLAID) are autosomal dominant diseases caused by mutations of PLCG2. APLAID is clinically characterized by episodic…
Abstract Number: 0062 • ACR Convergence 2020
The Role of PGLYRP1 in the Pathogenesis of Lyme Disease
Akash Gupta¹, Gunjan Arora¹, Connor Rosen², Yongguo Cao¹, Jiri Cerny³, Carmen Booth⁴, Noah Palm², Aaron Ring² and Erol Fikrig¹, ¹Section of Infectious Diseases, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, ²Department of Immunobiology, Yale University School of Medicine, New Haven, CT, ³Faculty of Tropical AgriSciences, Czech University of Life Sciences in Prague, Prague, Czech Republic, ⁴Department of Comparative Medicine, Yale University School of Medicine, New Haven, CT
Background/Purpose: Lyme Disease is caused by the spirochete Borrelia Burgdorferi (Bb). The infection often begins in the skin, following a tick bite, and spreads to…
Abstract Number: 1517 • ACR Convergence 2020
Metabolic Regulation of Type 3 Innate Lymphoid Cells by Intestinal Bacteria-Derived Indoles in Ankylosing Spondylitis
Adam Berlinberg¹, Adam Lefferts², Emilie Regner³, Andrew Stahly⁴ and Kristine Kuhn⁴, ¹University of Colorado, Denver, CO, ²University of Colorado, Anschutz Medical Campus, Denver, CO, ³University of California San Francisco, San Francisco, CA, ⁴University of Colorado Anschutz Medical Campus, Aurora, CO
Background/Purpose: Intestinal microbial dysbiosis, intestinal inflammation, and Th17 immunity are all linked to the pathophysiology of ankylosing spondylitis (AS); however, the mechanisms linking them remain…
Abstract Number: 0063 • ACR Convergence 2020
Novel Repurposed Drugs Against Joint Inflammation Reveal Potential Use for Gout Treatment: An In Silico, In Vitro and Clinical Study
Eloi Franco-Trepat¹, Ana Alonso-Pérez¹, Maria Guillán-Fresco¹, Miriam López-Fagundez¹, Andrés Pazos-Pérez¹, Ana Lois Iglesias², Susana Belén Bravo³, Alberto Jorge-Mora¹, JJ Gómez-Reino⁴ and Rodolfo Gómez¹, ¹IDIS-CHUS - Musculoskeletal Pathology Group, Santiago de Compostela, Spain, ²IDIS-CHUS - Musculoskeletal Pathology Group, A Coruna, Spain, ³IDIS-CHUS - Proteomics Unit, Santiago de Compostela, Galicia, Spain, ⁴IDIS-CHUS - Rheumatology Group, Santiago de Compostela, Spain
Background/Purpose: Joint inflammation is a common feature across multiple rheumatic diseases. To deal with the induction of innate immune factors, targeting therapeutic targets such as…
Abstract Number: 1531 • ACR Convergence 2020
Characterization of Cytokine/chemokine Profile in Patient-derived M1/ M2 Macrophages to Identify Biomarkers for Genetically-defined Systemic Autoinflammatory Diseases
Farzana Bhuyan¹, Adriana Almeida de Jesus², Kim Johnson³, Jacob Mitchell⁴, Yan Huang⁵ and Raphaela Goldbach-Mansky⁵, ¹NIH, bhetesda, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ³NIH, NIAID, Bethesda, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ⁵NIH, Bethesda
Background/Purpose: Genetic mutations in key regulatory molecules of the innate immune system cause autoinflammatory diseases through propagation of hyperinflammatory responses. Monocytes/ macrophages regulate inflammatory processes…
Abstract Number: 0064 • ACR Convergence 2020
Neutrophil Extracellular Traps Are Sufficient to Activate the Alternative Pathway of Complement
Rebecca Schriefer¹, Michelle Elvington², Priyan Weerappuli³ and Alfred Kim⁴, ¹Washington University School of Medicine, Saint Louis, MO, ²Kypha, Inc., Saint Louis, MO, ³University of Michigan, Ann Arbor, MI, ⁴Washington University School of Medicine, St. Louis, MO
Background/Purpose: Systemic lupus erythematosus (SLE) replies on complement activation to drive many of the pathophysiologic features of disease. We and others have noted that SLE…
Abstract Number: 1636 • ACR Convergence 2020
8 Years Follow-Up of a Novel Autoinflammatory Disease: CD59 Malfunction Causes Hemolytic Anemia, Recurrent Guillain-Barre Syndrome, and Strokes in Pediatric Populations and Respond Well to Eculizumab and Pozelimab
Dror Mevorach¹ and Netanel Karbian¹, ¹Hadassah-University Hospital, Jerusalem, Yerushalayim, Israel
Background/Purpose: In 2013 we have described the first patients with a novel autoinflammatory disease manifested in 4 children with recurrent Guillain-Barre syndrome and hemolytic anemia…
Abstract Number: 0074 • ACR Convergence 2020
The Intracellular DNA Sensor STING Protects Against Bone Loss Through Regulation of Type I Interferons
Susan MacLauchlan¹, Catherine Manning², Sijia Chen³, Katherine Fitzgerald⁴, Shruti Sharma⁵ and Ellen Gravallese¹, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women’s Hospital, Boston, ³Brigham and Women's Hospital, Boston, ⁴University of Massachusetts medical school, Worcester, MA, ⁵Tufts University, Boston, MA
Background/Purpose: The intracellular DNA sensor Stimulator of Interferon Genes (STING) is essential for detection of viral and bacterial pathogen DNA. As with other pathways in…
Abstract Number: 1810 • ACR Convergence 2020
Complement Activation in Systemic Lupus Erythematosus Patients with Low Disease Activity Is Not Inhibited by Hydroxychloroquine
Anne Margrethe Troldborg¹, Annette Hansen², Kristian Stengaard-Pedersen² and Steffen Thiel², ¹Aarhus University Hospital, Arhus, Denmark, ²Aarhus University, Aarhus, Denmark
Background/Purpose: Mortality in patients with systemic lupus erythematosus (SLE) is significantly higher than in the general population. Treatment of SLE patients has improved, however, a…
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: 1861 • ACR Convergence 2020
T Cells with IL-17A+ Signature in Psoriatic Arthritis Are of Different Subpopulations and Are Polyfuntional
Siba Raychaudhuri¹ and Smriti Raychaudhuri², ¹Division of Rheumatology, Allergy & Clinical Immunology, University of California School of Medicine, Davis, and VA Medical Center Sacramento, Sacramento, CA, ²VA Sacramento Medical Center, Davis, CA
Background/Purpose: A variety of T cells such as Th1, Th2, Th9, Th17, NKT, MAIT, etc have been attributed to multiple autoimmune diseases. In psoriatic arthritis…
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: 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…

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