Abstracts tagged "innate immunity"

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…
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: 159 • 2020 Pediatric Rheumatology Symposium
Interleukin-18 as a Key Cytokine to Understand Pathology and to Decide Appropriate Therapeutic Strategy in Chronic Arthritic Systemic Juvenile Idiopathic Arthritis
Takako Miyamae¹, Yumi Tani ¹, Manabu Kawamoto ², Takayuki Kishi ³ and Masayoshi Harigai ², ¹Pediatric Rheumatology, Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan, ²Institute of Rheumatology, Tokyo Women's Medical University, TOKYO, Japan, ³Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan
Background/Purpose: Long-term outcomes of systemic JIA are highly variable. approximately half of the patients have chronic persistent arthritis requiring extended anti-inflammatory therapy, sometimes into adulthood.…
Abstract Number: 75 • 2019 ACR/ARP Annual Meeting
Microglia-Specific Transcriptional Signatures Correlate with Behavioral Deficits in ‘Neuropsychiatric Symptoms of Systemic Lupus Erythematosus’
Hadijat Makinde¹, Elise Mike ², Chaim Putterman ³, Deborah Winter ⁴ and Carla Cuda ⁵, ¹Northwestern University, Chicago, IL, ²Albert Einstein College of Medicine, Bronx, NY, ³Albert Einstein College of Medicine, New York, NY, ⁴Northwestern University Feinberg School of Medicine, Division of Rheumatology, Chicago, ⁵Northwestern University Feinberg School of Medicine, Division of Rheumatology, Chicago, IL
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex autoimmune syndrome affecting multiple organs, including the brain. More than 50% of patients experience neuropsychiatric symptoms of…
Abstract Number: 76 • 2019 ACR/ARP Annual Meeting
Effect of Ifnα and Costimulatory Blockade on Brain Infiltration in a Model of ‘Neuropsychiatric Symptoms of Systemic Lupus Erythematosus’
Hadijat Makinde¹, Chirag Raparia ², Anne Davidson ² and Carla Cuda ³, ¹Northwestern University, Chicago, IL, ²Feinstein Institutes for Medical Research, Manhasset, ³Northwestern University Feinberg School of Medicine, Division of Rheumatology, Chicago, IL
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex autoimmune disease that affects many end organs including the brain. Despite a prevalence of over 50% in…
Abstract Number: 79 • 2019 ACR/ARP Annual Meeting
Unique Primed Status of Microglia Under the Systemic Autoimmune Condition of Lupus-Prone Mice
Atsushi Nomura¹, Daisuke Noto ², Goh Murayama ³, Asako Chiba ¹ and Sachiko Miyake ¹, ¹Department of Immunology, Juntendo University School of Medicine, Tokyo, Japan, ²Juntendo University School of Medicine, Tokyo, Japan, ³Department of Internal Medicine and Rhumatology, Juntendo University School of Medicine, Tokyo, Japan
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the production of various autoantibodies. This disease causes disabling neuropsychiatric symptoms even in the…
Abstract Number: 800 • 2019 ACR/ARP Annual Meeting
Cryopyrin-Associated Periodic Syndrome in Korea: 19 Years of Experience
Young Ho Kim¹, Bongjik Kim ², Byung Yoon Choi ², Haeng Jin Lee ³, Dae-Chul Jeong ⁴, Jinhee Han ², Hye-Rim Park ², Jayoung Oh ², Seungmin Lee ², Dooyi Oh ⁵ and Soyoung Lee ¹, ¹Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Seoul-t'ukpyolsi, Republic of Korea, ²Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seongnam, Kyonggi-do, Republic of Korea, ³Department of Ophthalmology, Seoul National University Hospital, Seoul, Republic of Korea, ⁴Department of Pediatrics, The Catholic University of Korea, Seoul, Seoul-t'ukpyolsi, Republic of Korea, ⁵Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul, Kyonggi-do, Republic of Korea
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) is rare auto-inflammatory disorder characterized by recurrent episodes fever with variable manifestation of systemic inflammation such as urticarial skin rash,…
Abstract Number: 1020 • 2019 ACR/ARP Annual Meeting
NLRP12 Regulates Interferon-α Expression and Is a Biomarker for Disease Activity of Systemic Lupus Erythematosus
Ming-Han Chen¹, Yen-Po Tsao ¹ and Szu-Ting Chen ², ¹Division of Allergy, Immunology & Rheumatology/Taipei Veterans General Hospital, Taipei, Taiwan (Republic of China), ²Institutes of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan (Republic of China)
Background/Purpose: Systemic lupus erythematous (SLE) is a systemic autoimmune disease with diverse etiological factors. It was well recognized that interferon (IFN) signature did the perpetration…
Abstract Number: 2736 • 2019 ACR/ARP Annual Meeting
Mucosal-associated Invariant T Cells Can Be Therapeutically Targeted in Lupus
Goh Murayama¹, Asako Chiba ², Tomohiro Mizuno ³, Atsushi Nomura ², Taiga Kuga ⁴, HIrofumi Amano ⁴, Ken Yamaji ⁴, Naoto Tamura ⁴ and Sachiko Miyake ², ¹Department of Internal Medicine and Rhumatology, Juntendo University School of Medicine, Tokyo, Japan, ²Department of Immunology, Juntendo University School of Medicine, Tokyo, Japan, ³Department of Immunlogy, Juntendo University School of Medicine, Tokyo, Japan, ⁴Department of Internal Medicine and Rheumatology, Juntendo University School of Medicine, Tokyo, Japan
Background/Purpose: Mucosal-associated invariant T (MAIT) cells are innate T cells that are restricted by the nonpolymorphic MHC-related molecule-1 (MR1) and express a semi-invariant TCRα chain:…

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