Abstracts tagged "Autoinflammatory diseases"

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…
Abstract Number: 1161 • ACR Convergence 2020
Perspectives of Radiologist Physicians in the Imaging of Chronic Nonbacterial Osteomyelitis
Farzana Nuruzzaman¹, Mingqian Huang², Christian Hedrich³, Hermann Girschick⁴, Julie Cherian⁵, T. Shawn Sato⁶, Karen Onel⁷, Polly Ferguson⁸ and Yongdong Zhao⁹, ¹Stony Brook Children's Hospital, Stony Brook, NY, ²Mount Sinai Hospital, 10003, NY, ³University of Liverpool, Liverpool, United Kingdom, ⁴Vivantes Children’s Hospital, Wuerzburg, Germany, ⁵Stony Brook Children�s Hospital, Stony Brook, NY, ⁶University of Iowa, Iowa City, ⁷Pediatric Rheumatology, Hospital for Special Surgery, New York, NY, ⁸University of Iowa Carver College of Medicine, Iowa City, IA, ⁹University of Washington, Seattle, WA
Background/Purpose: Radiological imaging is integral to the diagnosis of chronic nonbacterial osteomyelitis (CNO) and has been included as a central component in suggested diagnostic criteria…
Abstract Number: 0453 • ACR Convergence 2020
Monitoring of BK Reactivation and Long-term Safety on JAK1/2 Inhibition with Baricitinib
Kader Cetin Gedik¹, Gema Souto Adeva², Jenna Wade¹, Gina Montealegre Sanchez³, Adriana de Jesus⁴ and Raphaela Goldbach-Mansky⁵, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/ NIH, Bethesda, ³Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Rockville, MD, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ⁵Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: Baricitinib has been used to treat pediatric patients (pts) with Type 1 Interferonopathies1. Safety profile including BK viral reactivation in urothelium and pharmacokinetic model…
Abstract Number: 1163 • ACR Convergence 2020
Predictors of Colchicine Response in Patients with Undefined Systemic Autoinflammatory Diseases
Mariana Correia Marques¹, Edwin Anderson¹, Kathryn Williams², Jonathan Hausmann³ and Fatma Dedeoglu⁴, ¹Boston Children`s Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, ²Biostatistics and Research Design Center ICCTR Boston Children`s Hospital, Boston, MA, ³Boston Children’s Hospital, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, ⁴Boston Children's Hospital, Boston, MA
Background/Purpose: Systemic autoinflammatory diseases (SAIDs) result from dysregulation of the innate immune system. Many patients with SAIDs have specific mutations that lead to the release…
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,…

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