Abstracts tagged "innate immunity"

Abstract Number: 1432 • ACR Convergence 2021
Modulation of Auto-Inflammation with a Novel Selective Cyclic GMP-AMP Synthase (cGAS) Inhibitor in a Trex1-/- Model
Kelly Pike¹, Alexandre Caron¹, Emilie Bérubé¹, Ramsay Beveridge¹, Marc-Oliver Boily¹, Jason Burch¹, Valerie Dumais¹, Nadine Fradet¹, Samuel Gaudreault¹, Daniel McKay¹, Marianne Raymond¹, Eleftheria Seliniotakis¹, Daniel Sietsema³, Alexander Skeldon¹, Miguel St.-Onge¹, Li Wang² and Michael Crackower², ¹Ventus Therapeutics, Montréal, QC, Canada, ²Ventus Therapeutics, Waltham, MA

Background/Purpose: The detection of viral nucleic acids (NA) elicits a transient type I interferon (IFN) response central to antiviral immunity. Chronic type I IFN responses…
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…
Abstract Number: 0287 • ACR Convergence 2020
RNA Externalized by Neutrophil Extracellular Traps Promotes Inflammatory Pathways in Endothelial Cells
Xinghao Wang¹, Philip Carlucci², Jorge Romo-Tena¹, Jose Torres-Ruiz¹, Hong-Wei Sun¹, Markus Hafner¹, Mariana Kaplan³ and Luz Blanco⁴, ¹NIAMS, National Institute of Health, Bethesda, ²New York University School of Medicine, New York, NY, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases, Centreville
Background/Purpose: Neutrophil extracellular traps (NETs) are extracellular lattices composed of nucleic material bound to neutrophil granule proteins. NETs may play pathogenic roles in development and…
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: 0462 • ACR Convergence 2020
Lupus-like Autoimmunity and Increased Interferon Response in Patients with STAT3-deficient Hyper-IgE Syndrome
Brian Dizon¹, Rishi Goel², Shuichiro Nakabo², Amanda Urban², Meryl Waldman², Lilian Howard², Dirk Darnell², Munir Buhaya², Sarfaraz Hasni³, Mariana Kaplan⁴, Alexandra Freeman² and Sarthak Gupta¹, ¹National Institutes of Health, BETHESDA, MD, ²National Institutes of Health, Bethesda, ³Lupus Clinical Trials Unit, NIAMS/NIH, Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD
Background/Purpose: Autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job’s syndrome, is a rare primary immunodeficiency caused by dominant-negative loss-of-function (LOF) mutations in signal transducer…
Abstract Number: 0463 • ACR Convergence 2020
Molecular Diagnosis of Childhood Immunodysregulation, Endocrinopathy and Enteropathy X-linked (IPEX)-Like Syndrome and Implications for Clinical Management
Sarah Baxter¹, Tom Walsh¹, Silvia Casadei¹, Suleyman Gulsuner¹, Eric Allenspach², David Hagin³, Gesmar Segundo⁴, Troy Torgerson⁵ and Mary-Claire King¹, ¹University of Washington, Seattle, ²Seattle Children's Research Institute, Seattle, ³Tel Aviv Medical Center, Tel Aviv, Israel, ⁴Universidade Federal de Uberlandia, Uberlandia, Brazil, ⁵Allen Institute, Seattle
Background/Purpose: Patients with early-onset immunodysregulation, endocrinopathy and enteropathy but without identified mutations in FOXP3 are termed “IPEX-like,” and undergo trial-and-error immunosuppressive treatment with highly variable…
Abstract Number: 0469 • ACR Convergence 2020
IFNγ Is Essential for Alveolar Macrophage Driven Lung Inflammation in Macrophage Activation Syndrome
Denny Gao¹, Maggie Henderlight¹, Christopher Woods¹, Alexei Grom¹, Sherry Thornton¹, Michael Jordan¹, Katheryn Wikenheiser-Brokamp¹ and Grant Schulert², ¹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²PRCSG, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
Background/Purpose: Macrophage activation syndrome (MAS) is a life-threatening cytokine storm syndrome frequently complicating systemic juvenile idiopathic arthritis (SJIA) and driven by IFNγ. MAS is also…
Abstract Number: 0644 • ACR Convergence 2020
Characterizations of Cytokine Storm Associated with COVID19
Ofer Perzon¹, Avi Abutbul¹, Sigal Sviri¹ and Dror Mevorach¹, ¹Hadassah-University Hospital, Jerusalem, Yerushalayim, Israel
Background/Purpose: COVID-19, the name given to the clinical syndrome associated with the newly recognized virus SARS-CoV-2 has become pandemic with mortality estimated based on reports…
Abstract Number: 0949 • ACR Convergence 2020
SLAMF7 Engagement Drives Monocyte Super-Activation in Acute and Chronic Inflammation
Daimon Simmons¹, Hung Nguyen², Emma Gomez-Rivas³, YunJu Jeong⁴, William Apruzzese⁵, Edy Kim⁶ and Michael Brenner⁷, ¹Department of Pathology, Brigham and Women's Hospital, Boston, MA, ²Division of Rheumatology, Brigham and Women's Hospital,, Boston, MA, ³Division of Rheumatology, Brigham and Women's Hospital, Boston, MA, ⁴Division of Pulmonary and Critical Care, Brigham and Women's Hospital, Boston, MA, ⁵., Boston, ⁶Brigham and Women’s Hospital, Division of Pulmonary and Critical Care Medicine, Boston, MA, ⁷Brigham and Women's Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Monocytes orchestrate immune responses that protect against microbes but can also drive pathological inflammation and autoimmune disease. Monocytes are thought to be activated primarily…
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)…

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