Abstracts tagged "Autoinflammatory diseases"

Abstract Number: L03 • ACR Convergence 2023
Efficacy and Safety of Targeted Therapies in VEXAS Syndrome: Retrospective Study from the French VEXAS Group
Jerome Hadjadj¹, Yann Nguyen¹, Dalila Mouloudji¹, Rim Bourguiba¹, Mael Heiblig², Aloui Hassina¹, Valentin Lacombe³, Samuel Ardois⁴, Corrado Campochiaro⁵, Alexandre Maria⁶, Thibault Comont⁷, Estibaliz Lazaro⁸, Francois Lifermann⁹, Guillaume Le Guenno¹⁰, Herve Lobbes¹⁰, Roderau Outh¹¹, Julien Campagne¹², Cyrille Coustal⁶, Alice Garnier¹³, Yvan Jamilloux², Aurore Meyer¹⁴, Noemie Abisror¹⁵, Olivier Kosmider¹, Vincent Jachiet¹, Olivier FAIN¹⁶, Benjamin Terrier¹⁷, Arsene Mekinian¹ and Sophie Georgin-Lavialle¹⁸, ¹APHP, Paris, France, ²Lyon Hospital, Lyon, France, ³Angers Hospital, Angers, France, ⁴Rennes Hospital, Rennes, France, ⁵San Raffaele Scientific Institute, Milan, Italy, ⁶Montpellier Hospital, Montpellier, France, ⁷Oncopole Toulouse, Toulouse, France, ⁸Bordeaux Hospital University, Pessac, France, ⁹Dax Hospital, Dax, France, ¹⁰Clermont Hospital, Clermont Ferrand, France, ¹¹Perpignan Hospital, Perpignan, France, ¹²Hpital Robert Schuman, Metz, France, ¹³Nantes Hospital, Nantes, France, ¹⁴Strasbourg Hospital, Strasbourg, France, ¹⁵Internal Medicine Saint Antoine Hospital, Paris, France, ¹⁶Hopital Saint Antoine APHP, Paris, France, ¹⁷Cochin Hospital, Paris, France, ¹⁸AP-HP, Tenon hospital, Paris, France
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a monogenic disease of adults due to acquired somatic mutations of the UBA1 gene. Patients…
Abstract Number: 0039 • ACR Convergence 2023
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis
Mariana Correia Marques¹, Danielle Rubin¹, Emily Shuldiner², Mallika Datta¹, Elizabeth Schmitz¹, Alexei Grom³, Dirk Foell⁴, Marco Gattorno⁵, John Bohnsack⁶, Rae Yeung⁷, Sampath Prahalad⁸, Elizabeth Mellins⁹, Jordi Anton Lopez¹⁰, Claudio Len¹¹, Sheila Oliveira¹², Patricia Woo¹³, Seza Ozen¹⁴, INCHARGE Consortium¹, Zuoming Deng¹⁵ and Michael Ombrello¹, ¹National Institute of Arthritis & Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²Department of Biology, Stanford University, Stanford, CA, ³Division of Rheumatology, Cincinnati Children`s Hospital, Cincinnati, OH, ⁴University Hospital Münster, Münster, Germany, ⁵UOC Reumatologia e Malattie Autoinfiammatorie, Genoa, Italy, ⁶University of Utah, Salt Lake City, UT, ⁷The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁸Emory University School of Medicine, Children's Pediatric Institute, Atlanta, GA, ⁹Stanford University, Stanford, CA, ¹⁰Pediatric Rheumatology Department, Hospital Sant Joan e Deu, Barcelona University, Barcelona, Spain, ¹¹São Paulo Federal University, São Paulo, Brazil, ¹²Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹³University College London, London, United Kingdom, ¹⁴Hacettepe University Medical Faculty, Ankara, Turkey, ¹⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a complex inflammatory condition of childhood. It can be complicated by macrophage activation syndrome (MAS), a secondary form…
Abstract Number: 0278 • ACR Convergence 2023
NOD2 Genotyping Landscape in Yao Syndrome
Hafsa Nomani¹, Ashmia Saif², Frank Hwang¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Stony Brook University Hospital, Syosset, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. This study…
Abstract Number: 1146 • ACR Convergence 2023
Gene X Environment Paradigm: Exemplified by Selected Cases of Autoinflammatory Diseases
Qingping Yao and Peter Gorevic, Stony Brook University, Stony Brook, NY
Background/Purpose: The current scientific opinion holds that gene and environment (G X E) interactions contribute to certain human diseases. Systemic autoinflammatory diseases (SAIDs) are usually…
Abstract Number: 1929 • ACR Convergence 2023
Anakinra Treatment in Idiopathic Recurrent Pericarditis: A Single-center Experience
Zeynep Toker Dincer¹, Sejla Karup², Erkin Yilmaz¹, Osman Corbali¹ and Serdal Ugurlu¹, ¹Istanbul University-Cerrahpasa, Istanbul, Turkey, ²Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Idiopathic recurrent pericarditis (IRP) is defined by recurring episodes of pericardial inflammation without a known cause. This study investigates the safety and efficacy of…
Abstract Number: PP11 • ACR Convergence 2023
We Suffered For Decades, But Then She Was Born
Ian Stedman¹ and Barbara Stedman², ¹Canadian Autoinflammatory Network, Vaughan, ON, Canada, ²Canadian Autoinflammatory Network, Turkey Point, ON, Canada
Background/Purpose: I was born in 1981; my mother in 1949; and my grandmother in 1926. Our story runs at least four generations deep, that we…
Abstract Number: 0064 • ACR Convergence 2023
Correlation of Anti-DFS70 Autoantibodies by ELISA with HEp-2 Cells DFS Pattern by IFA
Vincent ricchiuti¹, Michael Nappi², Kelly Chun², Ajay Grover¹ and Rubio Punzalan², ¹Labcorp, Dublin, OH, ²Labcorp, Calabasas, CA
Background/Purpose: The discovery and characterization of the dense fine speckled (DFS, ICAP AC-2) nuclear pattern of antinuclear autoantibodies (ANA) detected in HEp-2 cells by indirect…
Abstract Number: 0306 • ACR Convergence 2023
Fitbit Is a Valid and Reliable Physical Activity Monitor in Idiopathic Inflammatory Myopathy
Akanksha Sharma¹, shiri keret², Raisa Lomanto Silva³, Tanya Chandra⁴, Joel Levin⁵, Siamak Moghadam-Kia³, Chester V. Oddis⁶ and Rohit Aggarwal⁶, ¹UPMC Mercy Hospital, Pittsburgh, PA, ²Bnai Zion, Atlit, Israel, ³University of Pittsburgh Medical Center, Pittsburgh, PA, ⁴Georgetown University Hospital, Washington, DC, ⁵University of Pittsburgh, Katz Graduate School, Pittsburgh, PA, ⁶University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Idiopathic inflammatory myopathies (IIM, myositis) are a systemic autoimmune disease leading to debilitating muscle weakness and significant limitations in daily activities. Physical activity monitor…
Abstract Number: 1148 • ACR Convergence 2023
A Comparative Study of Clinical Phenotype in Relation to NOD2 Sub-genotypes in Yao Syndrome
Ashmia Saif¹, Hafsa Nomani², Frank Hwang², Jie Yang² and Qingping Yao², ¹Stony Brook University Hospital, Syosset, NY, ²Stony Brook University, Stony Brook, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. Most patients…
Abstract Number: 1932 • ACR Convergence 2023
The Association Between Initial Ferritin and Complications from Adults Onset Stills Disease and Intensive Care Unit Admission
Olivia Yang¹, Caroline Bui¹, Scott Kubomoto¹, Napatkamon Ayutyanont¹, Kimberly Vickery¹ and Kumar Venkat², ¹Riverside Community Hospital, Riverside, CA, ²Retired, Irvine, CA
Background/Purpose: Adult Onset Still's Disease (AOSD) is an autoinflammatory disease characterized by quotidian fever, arthralgia, and a salmon colored rash. Due to its rarity, there…
Abstract Number: 0039.5 • ACR Convergence 2023
Cytokine-induced Transcriptome Modification Elucidates the Similarity and Dissimilarity Across 10 Immune-related Diseases
Haruka Takahashi¹, Hiroaki Hatano², Masahiro Nakano³, Haruka Tsuchiya⁴, Mineto Ota⁴, Tomohisa Okamura⁵, Keishi Fujio⁴ and Kazuyoshi Ishigaki⁶, ¹Laboratory for Human Immunogenetics, RIKEN Center for Integrative Medical Sciences and Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ²Laboratory for Human Immunogenetics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan, ³Laboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan, ⁴Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ⁵Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo and Department of Functional Genomics and Immunological Diseases, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ⁶RIKEN, Tokyo, Japan

Background/Purpose: Abnormal cytokine regulation is the fundamental pathology of immune-mediated diseases (IMDs). Clinical transcriptome data has a potential to monitor real-time cytokine pathway activities of…
Abstract Number: 0539 • ACR Convergence 2023
Impact of Extreme Baseline BASDAI and/or Maastricht AS Enthesitis Score on Treatment Response to Upadacitinib in Patients with Axial Spondyloarthritis
Maxime Dougados¹, David Bulbin², Heather Jones³, Tianming Gao⁴, Anna Shmagel⁵, Thomas Poznanski⁶, Abhijeet Danve⁷ and Karl Gaffney⁸, ¹Université de Paris, Paris, France, ²Geisinger Health System, Danville, PA, ³AbbVie, Inc., Mettawa, IL, ⁴AbbVie, Inc., North Chicago, IL, ⁵AbbVie, Inc., Long Grove, IL, ⁶AbbVie, Inc., Plainfield, IL, ⁷Yale University, New Haven, CT, ⁸Norfolk and Norwich University Hospital NHS Trust, Norfolk, United Kingdom
Background/Purpose: Axial SpA (axSpA) and FM manifest with overlapping clinical features such as pain, fatigue, and stiffness, yet their treatment is distinctly different. FM is…
Abstract Number: 1240 • ACR Convergence 2023
Obvious Only in Retrospect: A Cohort of STING Associated Vasculopathy in Infancy (SAVI) Without Typical Rash
Ilaria Maccora¹, Patricia Vega-Fernandez², Kimberly Risma³ and Grant Schulert⁴, ¹PhD student, in the Area of Drugs and Innovative Treatments, NeuroFARBA Department, University of Florence. Meyer Children's Hospital, Firenze, Italy, ²Division of Rheumatology, Cincinnati Children's Hospital, Medical Centre, Cincinnati, OH, ³Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: STING-associated vasculopathy with onset in infancy (SAVI) is characterized by systemic inflammation, skin vasculopathy and interstitial lung disease. However, since the initial description knowledge…
Abstract Number: 1936 • ACR Convergence 2023
Higher Rates of Disease Control During the Coronavirus Pandemic in Pediatric Patients with Autoinflammatory Periodic Diseases on Canakinumab Treatment – Interim Data from the RELIANCE Registry
Gerd Horneff¹, Norbert Blank², Jasmin B. Kuemmerle-Deschner³, Joerg Henes⁴, Birgit Kortus-Goetze⁵, Prasad T. Oommen⁶, Anne Pankow⁷, Tobias Krickau⁸, Catharina Schuetz⁹, Ivan Foeldvari¹⁰, Juergen Rech¹¹, Frank Weller-Heinemann¹², Ales Janda¹³, Markus Hufnagel¹⁴, Florian M. Meier¹⁵, Frank Dressler¹⁶, Michael Borte¹⁷, Ioana Andreica¹⁸, Peter Wasiliew¹⁹, Michael Fiene²⁰, Daniel Windschall²¹, Martin Krusche²², Tania Kuempfel²³, Julia Weber-Arden²⁴ and Tilmann Kallinich²⁵, ¹Asklepios Klinik Sankt Augustin GmbH, Bonn, Germany, ²University Hospital Heidelberg, Heidelberg, Germany, ³med.uni-tuebingen, Tübingen, Germany, ⁴University Hospital Tuebingen, Tuebingen, Germany, ⁵Department of Internal Medicine, Division of Nephrology,University Hospital of Giessen and Marburg, Marburg, Germany, ⁶Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health,Medical Faculty Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, ⁷Department of Rheumatology and Clinical Immunology,Charité-Universitätsmedizin Berlin, Berlin, Germany, ⁸Pediatrics, Friedrich-Alexander University Erlangen-Nuernberg (FAU), Erlangen, Germany, ⁹Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus,Technische Universität Dresden, Dresden, Germany, ¹⁰Hamburger Zentrum für Kinder- und Jugendrheumatologie, Hamburg, Germany, ¹¹University Clinic Erlangen, Erlangen, Germany, ¹²Division of Pediatric Rheumatology, Prof. Hess Children's Hospital, Bremen, Bremen, Germany, ¹³Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany, ¹⁴Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Medical Center, Medical Faculty, University of Freiburg, Freiburg, Germany, ¹⁵Department of General Pharmacology and Toxicology, Goethe University Hospital and Goethe University Frankfurt, Frankfurt am Main, Germany, ¹⁶Department of Paediatric Pneumology, Allergology and Neonatology, Children's Hospital, Hannover Medical School, Hannover, Germany, ¹⁷Hospital for Children & Adolescents, St. Georg Hospital, Leipzig, Germany, ¹⁸Rheumazentrum Ruhrgebiet Herne, Herne, Germany, ¹⁹Division of Pediatric Rheumatology and autoinflammation reference center Tuebingen, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ²⁰Rheumatology Center Greifswald, Greifswald, Germany, ²¹Clinic of Paediatric and Adolescent Rheumatology, St. Josef-Stift Sendenhorst, Northwest German Center for Rheumatology, Sendenhorst, Germany, ²²UKE, Hamburg, Germany, ²³Institute of Clinical Neuroimmunology, Biomedical Center and University Hospital, Ludwig-Maximilians Universität München, Muenchen, Germany, ²⁴Novartis Innovative Medicines, Nuernberg, Germany, ²⁵Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, Nuremberg, Germany
Background/Purpose: Pediatric patients with autoinflammatory diseases (AID) on Canakinumab (CAN) therapy have been affected by the coronavirus pandemic including SARS-CoV-2 infection, SARS-CoV-2 vaccination, and AID…
Abstract Number: 0087 • ACR Convergence 2023
Immune Checkpoint Inhibitor Therapy Expands an Activated, anti-PD-1 Drug-bound CD8 T Cell Population That Is Clonally Linked in Blood and Synovial Fluid of ICI-arthritis Patients
Kathryne Marks¹, Anvita Singaraju², Runci Wang³, Ifeoluwakiisi Adejoorin¹, Miriam Fein², Michael Postow⁴, Karmela Kim Chan², Anne Bass⁵, Laura Donlin² and Deepak Rao¹, ¹Brigham and Women's Hospital, Boston, MA, ²Hospital for Special Surgery, New York, NY, ³Renji hospital, Shanghai Jiaotong University, Pudong Xinqu, China, ⁴Memorial Sloan Kettering Cancer Center, New York, NY, ⁵Hospital for Special Surgery, Weill Cornell Medicine, New York, NY
Background/Purpose: Immune checkpoint inhibitor (ICI) therapies used to treat cancer can induce immune related Adverse events (irAEs) such as ICI-induced arthritis (ICI-arthritis). We have previously…

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