Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 1152 • ACR Convergence 2022
A Novel Serological Biomarker Measuring a Fragment of Cartilage Intermediate Layer Protein 1 Is Highly Upregulated in Rheumatic Diseases
Helena Port¹, Walter P Maksymowych², Morten Karsdal³, Anne-Christine Bay-Jensen³ and Signe Holm Nielsen³, ¹University of Copenhagen, Copenhagen, Denmark, ²Department of Medicine, University of Alberta, Edmonton, AB, Canada, ³Nordic Bioscience, Herlev, Denmark
Background/Purpose: A hallmark of rheumatic joint diseases is altered cartilage protein turnover and protein composition. During cartilage erosions, the cartilage intermediate layer protein-1 (CILP-1), is…
Abstract Number: 1851 • ACR Convergence 2022
Phenotype and Genotype of Adult-onset Adenosine Deaminase 2 Deficiency Patients
Beibei Zu¹, rongrong wang², Xiaorou Wang³, Bingqing Zhang⁴, Na Xu⁴, Chengjin Huang⁴, Min Shen⁵ and Xuejun Zeng⁴, ¹Department of Rheumatology, Xuzhou Central Hospital, XuZhou, China, ²Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China, ³Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, Beijing, China, ⁴Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, ⁵Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease, characterized by early‑onset vasculopathy, fever, strokes, livedoid rash, hepatosplenomegaly, and hematologic dysfunction,…
Abstract Number: 0557 • ACR Convergence 2022
VEXAS Syndrome Is Characterized by Blood and Tissues Inflammasome Pathway Activation and Monocyte Dysregulation
Benjamin Terrier¹, Celine Posseme², Marie Temple³, Aurélien Corneau⁴, Francesco Carbone⁵, Eugénie Duroyon³, camille Gobeaux³, Estibaliz Lazaro⁶, Roderau Outh⁷, Guillaume Le Guenno⁸, Francois Lifermann⁹, Marie Berleur¹⁰, Thierry Weitten¹¹, Vivien Guillotin¹², Cédric Lenormand¹³, Hang-Korng Ea¹⁴, Mickael Ménager⁵, Darragh Duffy² and Olivier Kosmider³, ¹National Referral Center for Rare Systemic Autoimmune Diseases, Cochin Hospital, Paris, France, ²Institut Pasteur, Paris, France, ³Cochin Hospital, Paris, France, ⁴Pitié Salpêtrière Hospital, Paris, France, ⁵Institut Imagine, Paris, France, ⁶Bordeaux Hospital University, Bordeaux, France, ⁷CH, Perpignan, France, ⁸CHU, Clermont-Ferrand, France, ⁹Dax Hospital, Dax, France, ¹⁰CH, Versailles, France, ¹¹CHIGAS, Gap, France, ¹²CHU Bordeaux, Bordeaux, France, ¹³CHRU, Strasbourg, France, ¹⁴Lariboisière Hospital, Paris, France
Background/Purpose: Acquired mutations in the UBA1 gene, occurring in myeloid cells and resulting in expression of a catalytically impaired isoform of the enzyme E1, were…
Abstract Number: 1153 • ACR Convergence 2022
Differentially Expressed Genes in Males and Females with Ankylosing Spondylitis (AS): Transcriptomics of IL-17-producing Cells in Patients with AS
Chan Mi Lee¹, Ricky Chan², Maricela Haghiac³ and Marina Magrey⁴, ¹University Hospitals, Cleveland, OH, ²Case Western Reserve University, Cleveland, OH, ³Metrohealth Medical Center, Cleveland, OH, ⁴Case Western Reserve University, University Hospitals, Richfield, OH
Background/Purpose: Unlike most autoimmune diseases, ankylosing spondylitis (AS) is more frequently diagnosed in men (3:1) and with a higher radiographic progression compared to women. Th17…
Abstract Number: 1853 • ACR Convergence 2022
A Comparitive Study of NLRP3- and NLRP12-autoinflammatory Disease
Mark Yun, Brianne Navetta-Modrov, Hafsa Nomani, Jie Yang and QingPing Yao, Stony Brook University, Stony Brook, NY
Background/Purpose: NLRP3-associated autoinflammatoy disease (NLRP3-AID) and NLRP12-AID are rare autosomal dominant diseases. FACS1(familial cold autoinflammatory syndrome type 1), a subset of NLRP3-AID, is thought to…
Abstract Number: 0563 • ACR Convergence 2022
High-Dimensional Immunophenotyping with Mass Cytometry Reveals Unique Immune Cell Aberrations in Patients with Undiagnosed Inflammatory and Autoimmune Diseases
Alisa Mueller¹, Takanori Sasaki², Joshua Keegan¹, Jennifer Nguyen¹, Alec Griffith¹, Elizabeth Feig¹, Alice Horisberger³, Ye Cao¹, Gregory Keras¹, Lauren Briere⁴, Laurel Cobban¹, Daimon Simmons¹, Juan Pallais¹, Jeffrey Sparks², V. Michael Holers⁵, Undiagnosed Diseases Network¹, David Sweetser⁴, Joel Krier¹, Joseph Loscalzo¹, James Lederer¹ and Deepak Rao¹, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ³Harvard Medical School and Lausanne University Hospital, Boston, MA, ⁴Massachusetts General Hospital, Boston, MA, ⁵University of Colorado, Denver, CO
Background/Purpose: Few tools are available to evaluate the immune dysregulation in patients with severe autoimmune or inflammatory conditions that do not conform to well-defined rheumatologic…
Abstract Number: 1208 • ACR Convergence 2022
Development and Validation of a Prognostic Model for Methotrexate Discontinuation with Abnormal Monitoring Blood-test Results: A Cohort Study Using Data from Clinical Practice Research Datalink Gold and Aurum
Georgina Nakafero¹, Matthew J. Grainge¹, Tim Card¹, Maarten W Taal¹, Guruprasad P Aithal¹, Christopher P Fox², Christian Mallen³, Danielle van der Windt³, Richard Riley³ and Abhishek Abhishek¹, ¹University of Nottingham, Nottingham, United Kingdom, ²Nottingham University Hospital NHS Trust, Nottingham, United Kingdom, ³Keele University, Keele, United Kingdom
Background/Purpose: Patients established on long-term low-dose weekly methotrexate treatment undergo 3-monthly monitoring blood-tests to facilitate early detection of drug-related adverse events. Regular testing may not…
Abstract Number: 1930 • ACR Convergence 2022
Assessing the Number of Children Evaluated for Recurrent Fevers During the COVID-19 Pandemic in North America
Leanne Mansfield¹, Sivia Lapidus², Matthew Hollander³, Julie Cherian⁴, Marinka Twilt⁵, Maryam Piram⁶, Lakshmi Moorthy⁷, Brian Nolan⁸, Geraldina Lionetti⁹, Eveline Wu¹⁰, Heather Tory¹¹, Elizabeth Kessler¹², Cassyanne Aguiar¹³, Sirada Panupattanapong¹⁴, Shoghik Akoghlanian¹⁵, Felice Adler-Shohet¹⁶, Melissa Oliver¹⁷, Smriti Mohan¹⁸, Patricia DeLaMora¹⁹, Karen Durrant²⁰, Theresa Wampler Muskardin²¹, Samira Nazzar²², Mariana Correia Marques²³, Matthew Basiaga²⁴, Tiphanie vogel²⁵, Jamie Lai²⁵, Kathryn Edwards²⁶, Kathryn Garguilo²⁶, Sheila Nolan¹⁹, Emily Sheboy Scarcello²⁷, Gabrielle Alonzi²⁸, Ann Szymanski²⁹, Joyce Hui-Yuen³⁰, karen onel³¹, Fatma Dedeoglu³², Maria Gutierrez³³, Grant Schulert³⁴ and CARRA PFAPA/Autoinflammatory Working Group N/A³⁵, ¹Hospital for Special Surgery/Weill Cornell Medicine, New York, NY, ²Joseph M. Sanzari Children's Hospital Hackensack University Medical Center, Montclair, NJ, ³University of Vermont Medical Center Children's Hospital, Burlington, VT, ⁴Renaissance School of Medicine at Stony Brook University, Stony Brook Children’s Hospital, Stony Brook, NY, ⁵Cumming School of Medicine, University of Calgary, Calgary, AB, Canada, ⁶CHU Sainte Justine, University of Montreal, Montréal, QC, Canada, ⁷Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, ⁸Ann & Robert H. Lurie Children's Hospital, Chicago, IL, ⁹UCSF Benioff Children's Hospitals, Oakland, CA, ¹⁰University of North Carolina, Chapel Hill, NC, ¹¹Connecticut Children's Medical Center and University of Connecticut School of Medicine, S Glastonbury, CT, ¹²Spectrum Health Helen DeVos Children's Hospital, Michigan State University, Grand Rapids, MI, ¹³Children’s Hospital of The King’s Daughters / Eastern Virginia Medical School, Norfolk, VA, ¹⁴Cleveland Clinic Children's, Cleveland, OH, ¹⁵Division of Rheumatology, Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, ¹⁶University of California, Irvine and Children’s Hospital of Orange County, Orange, CA, ¹⁷Indiana University School of Medicine, Indianapolis, IN, ¹⁸University of Michigan Medical School, Ann Arbor, MI, ¹⁹Boston Children's Health Physicians, New York Medical College, Valhalla, NY, ²⁰Autoinflammatory Alliance, San Francisco, CA, ²¹Colton Center for Autoimmunity, NYU School of Medicine, New York, NY, ²²University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA, ²³Children's National Health System/National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ²⁴Mayo Clinic, Inver Grove Heights, MN, ²⁵Baylor College of Medicine, Houston, TX, ²⁶Vanderbilt University Medical Center, Nashville, TN, ²⁷Boston Children's Health Physicians, Valhalla, NY, ²⁸Boston Children's Hospital, Boston, MA, ²⁹Johns Hopkins All Children’s Hospital, St. Petersburg, FL, ³⁰Cohen Children’s Medical Center, Hofstra-Northwell School of Medicine, Feinstein Institutes for Medical Research, Queens, NY, ³¹Hospital for Special Surgery, New York, NY, ³²Division of Immunology, Boston Children's Hospital, Boston, MA, ³³Johns Hopkins University School of Medicine, Baltimore, MD, ³⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³⁵CARRA, Washington, DC
Background/Purpose: The impact of the COVID-19 pandemic on the number of pediatric patients evaluated in North America for recurrent fevers and autoinflammatory diseases is unknown;…
Abstract Number: 0010 • ACR Convergence 2022
The Inflammation Induced by Monosodium Urate and Calcium Pyrophosphate Crystals Depends on Osmolarity and Aquaporin Channels
Twinu wilson Chirayath¹, Nghia Pham¹, Christophe Duranton², Isabelle Rubera², Alan Gauffenic¹, Martine Cohen-Solal¹, Augustin Latourte³, Thomas Bardin⁴, Pascal Richette⁵, FREDERIC LIOTE¹ and Hang-Korng Ea⁶, ¹INSERM, PARIS, France, ²CNRS-UMR 7370, Nice, France, ³Université de Paris, Paris, France, ⁴Hôpital Lariboisiere, Paris, France, ⁵Department of Rheumatology, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Paris, France, ⁶Lariboisière Hospital, Paris, France
Background/Purpose: The inflammation induced by monosodium urate (MSU) and calcium pyrophosphate (CPP) crystals is driven by interleukin (IL)-1β production. This later relies on NLRP3 inflammasome…
Abstract Number: 0567 • ACR Convergence 2022
Gain-of-Function Mutations in Lyn Kinase Cause a Novel Autoinflammatory Disease with Small Vessel Vasculitis and Liver Fibrosis
Adriana Almeida de Jesus¹, Guibin Chen², Dan Yang², Tomas Brdicka³, Natasha Ruth⁴, David Bennin⁵, Dita Cebecauerova⁶, Hana Malcova⁷, Helen Freeman⁸, Neil Martin⁹, Karel Svojgr⁶, Murray Passo⁴, Farzana Bhuyan¹⁰, Sara Alehashemi¹¹, Andre Rastegar¹², Kat Uss¹², Lela Kardova¹², Iris Duric³, Ebun Omoyinmi¹³, Petra Peldova⁶, Chyi-Chia Richard Lee¹⁴, David Kleiner¹⁴, Colleen Hadigan¹⁵, Stephen Hewitt¹⁴, Stefania Pittaluga¹⁴, Carmelo Carmona-Rivera¹⁶, Katherine R. Calvo¹⁵, Nirali Shah¹⁴, Miroslava Balascakova⁶, Danielle Fink¹⁷, Radana Kotalova⁶, Zuzana Parackova⁶, Lucie Peterkova⁶, Daniela Kuzilkova⁶, Vit Campr⁶, Lucie Sramkova⁶, Stephen Brooks¹⁶, Eric Meffre¹⁸, Rebecca Harper², Hyesun Kuehn¹⁵, Mariana Kaplan¹⁶, Paul Brogan¹⁹, Sergio Rosenzweig¹⁵, Zuoming Deng¹⁶, Anna Huttenlocher⁵, Susan Moir¹², Douglas Kuhns¹⁷, Manfred Boehm², Karolina Skvarova Kramarzova²⁰ and Raphaela Goldbach-Mansky²¹, ¹NIAID, NIH, Silver Spring, MD, ²National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, ³Laboratory of Leukocyte Signaling, Institute of Molecular Genetics of the Academy of Sciences of Czech Republic (ASCR), Prague, Czech Republic, ⁴Medical University of South Carolina, Charleston, SC, ⁵Departments of Pediatrics and Medical Microbiology and Immunology, University of Wisconsin-Madison, Madison, WI, ⁶Second Faculty of Medicine, Charles University/University Hospital Motol, Prague, Czech Republic, ⁷Second Faculty of Medicine, Charles University/University Hospital Motol, Praha, Czech Republic, ⁸Raigmore Hospital, Inverness, Scotland, United Kingdom, ⁹Royal Hospital for Children, Glasgow, Scotland, United Kingdom, ¹⁰National Institutes of Health, Bethesda, MD, ¹¹NIH/NIAID/TADS, Clarksville, MD, ¹²National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹³Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom, ¹⁴National Cancer Institute, National Institutes of Health, Bethesda, MD, ¹⁵Clinical Center, National Institutes of Health, Bethesda, MD, ¹⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹⁷National Institute of Allergy and Infectious Diseases, National Institutes of Health, Frederick, MD, ¹⁸Yale University, New Haven, CT, ¹⁹UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ²⁰Second Faculty of Medicine, Charles University/University Hospital Motol, Prague, ²¹NIH/NIAID, Potomac, MD
Background/Purpose: Lyn kinase is a member of the Src family of tyrosine kinases that regulates innate and adaptive immune responses. Lyn C-terminal tail tyrosine residue,…
Abstract Number: 1240 • ACR Convergence 2022
A Systematic Review and Meta-Analysis of Diagnostic Test Accuracy for the Diagnosis of Cardiac Sarcoidosis
Omar Abialmouna¹, Mohamad Kalot², Mohamad Hamade³, Ronak Bahuva², Ariba Hasmi², Aamir Ahmed², Zachary Brumberger², Jordan Troy², Ali Choaib⁴, Ronak Bharucha², Ross Moyer², Karin Provost², Brian Page² and Umesh Sharma², ¹University at Buffalo, North Tonawanda, NY, ²University at Buffalo, Buffalo, NY, ³University of Miami, Miami, FL, ⁴Lebanese American University, Beirut, Lebanon
Background/Purpose: Autopsy reports for patients with sarcoidosis have suggested that up to 25% have cardiac involvement, mostly undiagnosed. Given the limited diagnostic accuracy of endomyocardial…
Abstract Number: 1931 • ACR Convergence 2022
NOD2 Mutations Are Associated with Upregulated Type 1 Interferon Gene Expression and Development of Granulomatous Hepatitis in Children with Autoimmune Hepatitis
Esraa Eloseily¹, Alexander Valencia², Astha Malik², Rebekah Karns², Cyd Castro Rojas², Mosab Alquraish², Rebecca Marsh³, Alexei Grom⁴ and Alexander Miethke², ¹Division of Pediatric Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Division of Gastroenterology, Hepatology & Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Division of Bone Marrow Transplantation & Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
Background/Purpose: Mutations in the gene NOD2 encoding the nucleotide-binding oligomerization domain-containing protein 2 (NOD2) which controls innate responses to LPS have been linked to Blau…
Abstract Number: 0014 • ACR Convergence 2022
The Expanded CD21 Low B Cell Subpopulation in Ankylosing Spondylitis Consists Mainly of Antigen-Inexperienced Cells
Rick Wilbrink¹, Linda van der Weele², Anneke Spoorenberg¹, Niek De Vries², Frans Kroese¹ and Gwenny Verstappen¹, ¹University Medical Center Groningen, Groningen, Netherlands, ²University Medical Center Amsterdam, Amsterdam, Netherlands
Background/Purpose: The role of B cells in the pathogenesis of ankylosing spondylitis (AS) remains relatively understudied. Nevertheless, available evidence shows presence of B cells at…
Abstract Number: 0584 • ACR Convergence 2022
Non-Clinical Evaluations of Deucravacitinib and Janus Kinase Inhibitor Specificity in Inflammatory or Homeostatic Pathways
Brandon Johnson, Jennifer Koenitzer, Peter Schafer and Ian M. Catlett, Bristol Myers Squibb, Princeton, NJ
Background/Purpose: Deucravacitinib is a selective inhibitor of tyrosine kinase 2 (TYK2) that has shown clinical efficacy in psoriasis, PsA, and SLE. Deucravacitinib is an allosteric…
Abstract Number: 1321 • ACR Convergence 2022
Systemic Inflammatory-based Scores and Bone Turnover Ratio as Novel Diagnostic Tools for Chronic Nonbacterial Osteomyelitis (CNO) of the Sternocostoclavicular Region in Adults
Anne Leerling, Juliette Faber, Natasha Appelman-Dijkstra, Olaf Dekkers and Elizabeth Winter, Leiden University Medical Center, Leiden, Zuid-Holland, Netherlands
Background/Purpose: Chronic non-bacterial osteomyelitis (CNO) in adults exhibits as sterile osteitis and consequent disrupted bone metabolism favoring bone formation of the sternocostoclavicular region (SCCH). Diagnosis…

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