Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0164 • ACR Convergence 2020
What’s in a Name? Patient and Family Perspectives on the Naming of Systemic Juvenile Idiopathic Arthritis
Mariana Correia Marques¹, Rashmi Sinha², Karen Durrant³, Sivia Lapidus⁴, Nicole Tennermann⁵, Saskya Angevare⁶, Leah Bush⁷, Kari Cupp⁸, Jonathan Hausmann⁹, David Maher¹⁰, Shalla Newton¹⁰, Michael Ombrello¹¹, Phillip Reardon⁸, Rebecca Trachtman¹², Fatma Dedeoglu⁵ and Grant Schulert¹³, ¹Boston Children`s Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, ²SJIA Foundation, Cincinnati, ³Autoinflammatory Alliance, San Francisco, CA, ⁴The Joseph M. Sanzari Children's Hospital, Hackensack Meridian Health, Montclair, NJ, ⁵Boston Children's Hospital, Boston, MA, ⁶Autoinflammatory Alliance, Amersfoort, Netherlands, ⁷Systemic JIA Foundation, Cincinnati, OH, ⁸Systemic JIA Foundation, Cincinnati, ⁹Boston Children's Hospital / Beth Israel Deaconess Medical Center, Cambridge, MA, ¹⁰Still's Disease, the 411, National organization, ¹¹Translational Genetics and Genomics Unit, NIAMS, NIH, Bethesda, MD, ¹²Icahn School of Medicine at Mount Sinai, New York, NY, ¹³PRCSG, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
Background/Purpose: The childhood inflammatory disorder systemic juvenile idiopathic arthritis (SJIA) has historically had several names, including Still’s disease and systemic juvenile rheumatoid arthritis. While its…
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: 1711 • ACR Convergence 2020
Musculoskeletal Sarcoidosis Learning Module for Internal Medicine Trainees: Developing a Rheumatology Curriculum
Kristen Fadel¹, Evan Dombrosky², Huzaefah Syed³, Joshua Gavin¹, Abhishek Nandan⁴, Stamatina Danielides⁵, Beth Rubinstein⁶, Yashswee KC⁷ and Sandra Johnson⁸, ¹Virginia Commonwealth University School of Medicine, Richmond, ²Virginia Commonwealth University School of Medicine, Glen Allen, VA, ³VCU Health, Richmond, VA, ⁴VCUHS and VA Medical Center- Richmond, VA, Richmond, VA, ⁵Virginia Commonwealth University School of Medicine, Richmond, VA, ⁶Virginia Commonwealth University, Richmond, VA, ⁷Virginia Commonwealth University School of Medicine, Henrico, VA, ⁸Virginia Commonwealth University Health Systems, Richmond
Background/Purpose: Sarcoidosis is a systemic, multi-organ disease frequently overlooked in the development of a differential diagnosis. Although typically considered a pulmonary disease, management decisions often fall to the Rheumatologist especially in the context of sarcoid-related arthritis or the initiation of immunosuppressive therapy. We…
Abstract Number: 0171 • ACR Convergence 2020
Interferon Response Gene Expression Differs in Whole Blood, Peripheral Blood Mononuclear Cells, Monocytes, T Cells, B Cells, and NK Cells in Patients with the Autoinflammatory Interferonopathies, CANDLE and SAVI
Jacob Mitchell¹, Sara Alehashemi², Bernadette Marrero³, Yan Huang⁴, Sofia Torreggiani¹, Lena Bichell¹, Gina Montealegre Sanchez⁵, Raphaela Goldbach-Mansky⁶ and Adriana de Jesus⁷, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ³Computational Systems Biology Section/NIAID/NIH, Bethesda, MD, ⁴NIH, Bethesda, ⁵NIAID/NIH, Rockville, MD, ⁶Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD, ⁷Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD
Background/Purpose: The disease progression of patients (pts.) with type-I interferon (IFN)-mediated diseases undergoing treatment with JAK1 and JAK2 inhibitors is monitored in part by measuring…
Abstract Number: 1157 • ACR Convergence 2020
Health and Socioeconomic Outcomes in a Neonatal-Onset Multisystem Inflammatory Disease (NOMID) Cohort Followed for a Median of Fifteen Years
Sara Alehashemi¹, Megha Garg², Kim Johnson³, Kelly King⁴, Chris Zalewski⁴, Debbie Payne⁵, Adriana de Jesus⁶, Joseph Snow⁷, Wadih Zein⁵, M. Teresa Magone⁵, Rachel Bishop⁸, Carmen Brewer⁴, Jeff Kim⁴, Scott Paul⁹, John Butman¹⁰ and Raphaela Goldbach-Mansky¹¹, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ²NIH/NIAID, Rochester, NY, ³NIH, NIAID, Bethesda, ⁴NIH, NIDCD, Bethesda, MD, ⁵NIH/NEI, Bethesda, MD, ⁶Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ⁷NIH, NIMH, Bethesda, MD, ⁸NIH, NEI, Bethesda, MD, ⁹NIH, CC/RMD, Bethesda, MD, ¹⁰NIH, CC/DRD, Bethesa, MD, ¹¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: Patients (pts) with NOMID have systemic inflammation and organ damage such as sensorineural hearing loss, hydrocephalus, optic nerve atrophy and growth plate defects. IL-1 blocking…
Abstract Number: 1855 • ACR Convergence 2020
Elevated Calprotectin Levels Reveal Loss of Vascular Pattern and Atrophy of Villi in Ileum Using Digital Chromo-endoscopy and Magnification Colonoscopy in Patients with Spondyloarthritis Without Inflammatory Bowel Disease
Consuelo Romero-Sanchez¹, Cristian Florez-Sarmiento², Valerie Khoury-Rosas³, Wilson Bautista-Molano⁴, Magaly Chamorro-Melo⁵, Diego Alejandro Jaimes⁶, Adriana Beltran-Ostos⁷, Juliette De Avila⁸, Alejandro Ramos-Casallas⁸, Juan Manuel Bello-Gualtero⁹, Jaiber Gutierrez⁵, Cesar Pacheco Tena¹⁰, Philipe Chalem Choueka¹¹ and Viviana Parra-Izquierdo¹², 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, ²Universidad El Bosque, Cellular and Molecular Immunology Group -InmuBo- / Grastroadvanced SAS, Bogotá D.C., Colombia, ³Universidad EL Bosque / School of Medicine, Bogotá D.C., Colombia, ⁴University Hospital Fundación Santa Fé de Bogotá and Universidad El Bosque, Bogotá, Colombia, ⁵Hospital Militar Central, Rheumatology and Immunology Department, School of Medicine, Bogotá D.C., Colombia, ⁶Clínicos IPS- Universidad de la Sabana, Bogotá D.C., Colombia, ⁷Hospital Militar Central, Subdirección de docencia e Investigación, Bogotá D.C., Colombia, ⁸Universidad El Bosque, Cellular and Molecular Immunology Group -InmuBo-, School of Dentistry, Bogotá D.C., Colombia, ⁹Hospital 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, ¹⁰Universidad Autonoma de Chihuahua, Chihuahua, Chihuahua, Mexico, ¹¹Fundacion Instituto de Reumatología Fernando Chalem, Universidad El Rosario, Bogotá D.C., Colombia, ¹².Universidad El Bosque, Cellular and Molecular Immunology Group -InmuBo- / Grastroadvanced SAS, Bogotá D.C., Colombia
Background/Purpose: Fecal calprotectin (FC) is a well bio-marker related to mucosal inflammation. Digital chromo-endoscopy (DCE) with magnification is a technique to identify microscopic inflammation. The…
Abstract Number: 0172 • ACR Convergence 2020
Early Treatment and IL1RN Single Nucleotide Polymorphisms Affect Response to Anakinra in Systemic Juvenile Idiopathic Arthritis
Marianna Nicoletta Rossi¹, Manuela Pardeo², Denise Pires Marafon², Emanuela Sacco², Chiara Passarelli³, Claudia Bracaglia², Chiara Perrone³, Anna Tulone⁴, Giusi Prencipe⁵ and Fabrizio De Benedetti⁶, ¹Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Lazio, Italy, ²Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ³U.O.C. Laboratory of Medical Genetics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ⁴Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ⁵Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesu', Rome, Italy, ⁶Division of Rheumatology, Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) represents 10-20% of all chronic arthritis during childhood. The interleukin 1 (IL-1) play a pivotal role in the pathogenesis…
Abstract Number: 1158 • ACR Convergence 2020
Clinical Features and Outcomes in STING-Associated Vasculopathy with Onset in Infancy (SAVI)
Sofia Torreggiani¹, Sara Alehashemi², Jacob Mitchell¹, Gema Souto Adeva¹, Bin Lin¹, Jenna Wade¹, Gina Montealegre Sanchez³, Abdulrahman Alrasheed⁴, Sibel Balci⁵, Roberta Berard⁶, Borzutzky Arturo⁷, Jürgen Brunner⁸, Bjoern Buehring⁹, Al Adba Buthaina¹⁰, Caterina Cancrini¹¹, John Carter¹², Mireia Corbeto Lopez¹³, Fabrizio De Benedetti¹⁴, Huy Do¹⁵, Gregor Dueckers¹⁶, Les Folio¹⁵, Antonella Insalaco¹⁷, Rabia Miray Kisla Ekinci⁵, Michael Miller¹⁸, Marco Montes Cano¹⁹, Marie-Paule Morin²⁰, Seza Ozen²¹, Lucia Pacillo¹¹, Suzanne Ramsey²², Adam Reinhardt²³, Dax Rumsey²⁴, Laisa Santiago²⁵, Grant Schulert²⁶, Benjamin Wright²⁷, Adriana de Jesus²⁸ and Raphaela Goldbach-Mansky²⁹, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ³NIAID/NIH, Rockville, MD, ⁴King Abdullah Specialized Children Hospital, Riyadh, Riyadh, Saudi Arabia, ⁵Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, Turkey, ⁶London Health Sciences Centre, London, ON, Canada, ⁷Pontificia Universidad Católica de Chile, Santiago, Chile, ⁸Tirol Kliniken, Innsbruck, Innsbruck, Austria, ⁹Rheumazentrum Ruhrgebiet, Ruhr-University-Bochum, Herne, Germany, ¹⁰Sidra Medicine, Doha, Doha, Qatar, ¹¹Unit of Immune and Infectious Diseases, Scientific Institute for Research and Healthcare (IRCCS) Childrens’ Hospital Bambino Gesù, University Department of Pediatrics (DPUO); Department of Systems Medicine, University of Rome Tor Vergata, Roma, Italy, ¹²University of South Florida, Tampa, FL, ¹³Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain, ¹⁴Division of Rheumatology, Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ¹⁵Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, ¹⁶Helios Kliniken - Kinderklinik, HELIOS Klinikum Krefeld, Germany, Krefeld, Germany, ¹⁷Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ¹⁸Feinberg School of Medicine, Northwestern University Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, ¹⁹Hospital Universitario Virgen del Rocío, Sevilla, Sevilla, Spain, ²⁰Université de Montréal, CHU Sainte-Justine, Montréal, Canada, ²¹Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ²²IWK Health Centre, Dalhousie University, Halifax, NS, Canada, ²³Boys Town National Research Hospital, Omaha, Omaha, NE, ²⁴Alberta Health Services – Edmonton Zone (Stollery Children’s Hospital), University of Alberta, Edmonton, AB, Canada, ²⁵Johns Hopkins All Children's Hospital, St. Petersburg, FL, ²⁶PRCSG, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ²⁷Mayo Clinic, Phoenix, AZ, ²⁸Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ²⁹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is an autoinflammatory interferonopathy caused by gain-of-function mutations in STING1, characterized by peripheral vasculopathy and interstitial lung…
Abstract Number: 1950 • ACR Convergence 2020
Elevated Serum Gasdermin D N-terminal Implicates Macrophage Pyroptosis in Adult-onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis
Hideto Nagai¹, Yohei Kirino², Hiroto Nakano³, Yosuke Kunishita¹ and Michael Ombrello⁴, ¹Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan, ²Yokohama City University Graduate School of Medicine, Yokohama, Japan, ³NIAMS, NIH, Bethesda, ⁴Translational Genetics and Genomics Unit, NIAMS, NIH, Bethesda, MD
Background/Purpose: Elevation of serum IL-18 in adult-onset Still's disease (AOSD) and systemic juvenile idiopathic arthritis (sJIA) suggests involvement of one or more inflammasome in these…
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…

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