Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0947 • ACR Convergence 2021
Cytokine Competent Gut-joint Migratory T Cells Contribute to Inflammation in the Joint
Adam Lefferts¹, David Claypool¹, Eric Norman¹, Uma Kantheti¹ and Kristine Kuhn², ¹University of Colorado, Anschutz Medical Campus, Aurora, CO, ²University of Colorado Anschutz Medical Campus, Aurora, CO
Background/Purpose: Although studies have identified the presence of gut-associated cells in the enthesis of joints affected by spondyloarthritis, a direct link through cellular transit between…
Abstract Number: 1508 • ACR Convergence 2021
Decrease of Angiogenic T Cells Associated to the Presence of Interstitial Lung Disease in Patients with Connective Tissue Diseases
Verónica Pulito-Cueto¹, Sara Remuzgo-Martinez¹, Fernanda Genre¹, Belén Atienza-Mateo², Victor M. Mora-Cuesta³, David Iturbe-Fernández³, Leticia Lera-Gómez¹, Raquel Perez-Fernández¹, Pilar Alonso-Lecue⁴, Javier Rodriguez-Carrio⁵, Diana Prieto-Peña⁶, Virginia Portilla⁶, Ricardo BLANCO⁷, Alfosno Corrales⁶, José M. Cifrián⁸, Raquel López-Mejías¹ and Miguel Ángel gonzalez-Gay⁹, ¹Research group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Santander, Spain, ²Group "Research in genetic epidemiology and atherosclerosis of systemic diseases and in bone metabolic diseases of the locomotor system", IDIVAL; and Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ³Research group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System; Department of Pneumology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁴Research group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL; Department of Pneumology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁵Deparment of Functional Biology, Immunology Area, Faculty of Medicine, Universidad de Oviedo, Oviedo, Asturias, Spain., Oviedo, Spain, ⁶Research group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL; Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁷Hospital University Marqués de Valdecilla, Santander, Spain, ⁸Research group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL; Department of Pneumology, Hospital Universitario Marqués de Valdecilla; School of Medicine, Universidad de Cantabria, Santander, Spain, ⁹Research group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Division of Rheumatology, Hospital Universitario Marqués de Valdecilla; School of Medicine, Universidad de Cantabria, Santander, Spain. Cardiovascular Pathophysiology and Genomics Research Unit, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Background/Purpose: Interstitial lung disease (ILD) is one of the most significant complications of connective tissue diseases (CTD) leading to an increase of the morbidity and…
Abstract Number: 0996 • ACR Convergence 2021
The Stimulator of Interferon Genes (STING) Protects from Bone Loss Through Regulation of Tonic and Induced Type I Interferon Pathways
Susan MacLauchlan¹, Priyanka Kushwaha¹, Albert Tai², Jia (Sijia) Chen³, Catherine Manning¹, Katherine Fitzgerald⁴, Shruti Sharma² and Ellen Gravallese⁵, ¹Brigham and Women's Hospital, Boston, MA, ²Tufts University School of Medicine, Boston, MA, ³Brigham and Women's Hospital, Cambridge, MA, ⁴University of Massachusetts Medical School, Worcester, MA, ⁵Brigham and Women's Hospital, Harvard Medical School, Chestnut Hill, MA
Background/Purpose: The intracellular DNA sensing Stimulator of Interferon Genes (STING) pathway is critical for detection of viral and bacterial pathogen DNA. Hyperactivating mutations in this…
Abstract Number: 1546 • ACR Convergence 2021
Immune Responses to COVID-19 Vaccines in Patients Using Immunosuppressive Medication for Inflammatory Arthritis – An Observational Study of 1500 Patients
Ingrid Jyssum¹, Anne Therese Tveter¹, Fridtjof Lund-Johansen², Ludvig Munthe², Sella Provan¹, Kristin Jørgensen³, Gunnveig Grødeland², Grete Kro², David Warren², Joseph Sexton¹, Tore Kvien¹, Siri Mjaaland⁴, Espen Haavardsholm¹, John Torgils Vaage², Silje Watterdal Syversen¹ and Guro Goll¹, ¹Diakonhjemmet Hospital, OSLO, Norway, ²Oslo University Hospital, Oslo, Norway, ³Akershus University Hospital, Lørenskog, Norway, ⁴Norwegian Institute of Public Health, Oslo, Norway
Background/Purpose: To assess the strength and duration of the immunological response to COVID-19 vaccines in patients treated with immunosuppressive medication for inflammatory arthritis.Methods: Adult patients…
Abstract Number: 1011 • ACR Convergence 2021
Validation of Bioinformatics Pipeline to Detect NEMO-Deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) and Preliminary Clinical and Immunologic Characterization
Adriana Almeida de Jesus¹, Bin Lin², Eric Karlins³, Dana Kahle⁴, Andre Rastegar², Jacob Mitchell², Sofia Torreggiani², Farzana Bhuyan², Sara Alehashemi⁵, Kader Cetin Gedik⁶, Kat Uss², Chyi-Chia Lee⁷, Hyesun Kuehn⁸, Sergio Rosenzweig⁸, Katherine Calvo⁸, Magdalena Walkiewicz⁹, Justin Lack¹⁰, Eric Hanson¹¹, Amer Khojah¹², Eveline Wu¹³, Christiaan Scott¹⁴, Timothy Ronan Leahy¹⁵, Emma MacDermott¹⁵, Orla Kileen¹⁵, Thaschawee Arkachaisri¹⁶, Zoran Gucev¹⁷, Kathryn Cook¹⁸, Vafa Mammadova¹⁹, Gulnara Nasrullayeva¹⁹, Scott Canna²⁰, Douglas Kuhns²¹, Clifton Dalgard²², Timothy Moran²³, Andrew Oler³ and Raphaela Goldbach-Mansky²⁴, ¹TADS/NIAID/NIH, Silver Spring, MD, ²TADS/NIAID/NIH, Bethesda, MD, ³BCBB/NIAID/NIH, Bethesda, MD, ⁴National Institutes of Health, Chevy Chase, MD, ⁵TADS/NIAID/NIH, Clarksville, MD, ⁶Translational Autoinflammatory Diseases Section (TADS)/NIAID/NIH, Bethesda, MD, ⁷NCI/NIH, Bethesda, MD, ⁸CC/DLM/NIH, Bethesda, MD, ⁹CSI/NIAID/NIH, Bethesda, MD, ¹⁰NCBR/NIAID/NIH, Bethesda, MD, ¹¹Indiana University School of Medicine, Indianapolis, IN, ¹²Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ¹³UNC Chapel Hill, Chapel Hill, NC, ¹⁴Paediatric Rheumatology, University of Cape Town, Cape Town, South Africa, ¹⁵Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland, ¹⁶KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, ¹⁷University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁸Akron Childrens Hospital, Copley, OH, ¹⁹Azerbaijan Medical University, Baku, Azerbaijan, ²⁰Children's Hospital of Philadelphia, Philadelphia, PA, ²¹Frederick National Laboratory for Cancer Research/NIH, Frederick, MD, ²²TAGC/USUHS, Bethesda, MD, ²³University of North Carolina School of Medicine, Chapel Hill, NC, ²⁴NIH/NIAID, Potomac, MD
Background/Purpose: Splice site variants in IKBKG that lead to exon 5 deletion cause NEMO-deleted exon 5 autoinflammatory syndrome (NEMO-NDAS). NEMO-NDAS clinically mimics the interferonopathy chronic…
Abstract Number: 1548 • ACR Convergence 2021
Q Fever as a Mimicker of Rheumatologic Conditions: A Case Series from Two Tertiary Care Academic Centers in Southern California
Manushi Aggarwal and Marven Cabling, Loma Linda University Health, Redlands, CA
Background/Purpose: Q fever, an endemic disease in Southern California, is a zoonosis caused by Coxiella burnetii. The infection can present with multiple non-specific acute and chronic manifestations including fever, headache,…
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…

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