Abstracts tagged "Autoinflammatory diseases"

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: 032 • 2023 Pediatric Rheumatology Symposium
From Bedside to Bench and Back: Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes with Hearing Loss as the Primary Presentation, Responsive to Anti-IL1 Therapy
Merav Birk-Bachar¹, Hadar Cohen², Yoel Levinsky³, rotem tal⁴, Gil Amarilyo⁵, Meirav Sokolov⁶, Efrat Sofrin-Drucker⁷, Naama Orenstein⁷, Gabriel Lidzbarsky⁷, Liora Kornreich⁸, Eyal Raveh⁶, Nesya Kropach-Gilad⁷, Motti Gerlic² and Liora Harel⁹, ¹Pediatric Rheumatology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ²Sackler Faculty of Medicine, Immunology Department, Tel Aviv University, Tel Aviv, Israel, ³Schneider Children's Medical Center of Israel, Tel Aviv University, Petach Tikva, Israel, ⁴Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁵Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁶Pediatric Ear Nose and Throat Unit Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁷Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel, ⁸Pediatric Imaging Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁹Scheiders Children Medical Center of Israel, Petah-Tiqva, Israel
Background/Purpose: Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of rare autoinflammatory diseases caused by gain-of-function mutations inthe NLRP3 gene. These mutations cause inflammasome hyperactivity and…
Abstract Number: 036 • 2023 Pediatric Rheumatology Symposium
Predictive Factors of Long-lasting Remission Following Anakinra Withdrawal in Patients with Systemic Juvenile Idiopathic Arthritis After Achievement of Clinical Inactive Disease
Germana Nardini¹, Claudia Bracaglia², Denise Pires Marafon¹, Emanuela Sacco³, Arianna De Matteis¹, Ivan Caiello¹, Giusi Prencipe¹, Fabrizio De Benedetti² and Manuela Pardeo², ¹Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesu', Roma, Italy, ²Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy, ³Fondazione Casa Sollievo della Sofferenza, Pediatria, San Giovanni Rotondo, Italy
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a rare autoinflammatory disease of unknown etiology. Several uncontrolled studies showed that early treatment with anakinra is associated…
Abstract Number: 044 • 2023 Pediatric Rheumatology Symposium
Validation of Newly Proposed Classification Criteria for Pediatric Chronic Nonbacterial Osteomyelitis: A Virginia Cohort
Kelley Lee¹, Ashley Kim² and Aarat Patel³, ¹University of Richmond, Richmond, VA, ²University of Virginia, Charlottesville, VA, ³Bon Secours Mercy Health / University of Virginia, GLEN ALLEN, VA
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an aseptic autoinflammatory bone disease of unknown etiology. This diagnosis can be delayed due to the non-specific nature of…
Abstract Number: 059 • 2023 Pediatric Rheumatology Symposium
Update of Clinical and Laboratory Features of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease (SJIA-LD) Cohort
Esraa Eloseily¹, Min-Lee Chang², Mary Ellen Riordan³, allan Russell⁴, Marc Natter², Yukiko Kimura⁵ and Grant Schulert¹, ¹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Boston Children's Hospital, Boston, MA, ³Hackensack Meridian Health/ Joseph M. Sanzari Children's Hospital, Hackensack, NJ, ⁴Duke Clinical Research Institute, Durham, NC, ⁵Hackensack Meridian School of Medicine, Hackensack, NJ
Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) associated lung disease (SJIA-LD) is an emerging and life-threatening clinical problem. Despite recent advances, there remain key unanswered questions…
Abstract Number: 068 • 2023 Pediatric Rheumatology Symposium
Outcomes of Children with Uveitis Associated with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV)
Ilaria Maccora¹, Arjun Sood², Grant Schulert³, Megan Quilan-Water³, Alexandra Duell³, Jennifer Huggins³, Tiffany Nguyen², Cameron Sapp², Sumit Sharma⁴, Srivastaval Sunil⁴ and Sheila Angeles-Han⁵, ¹IRCCS Meyer Children’s Hospital, Rheumatology Unit, Florence, Italy, ²Cincinnati Eye Institute, Cincinnati, OH, ³Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Cole Eye Institute, Cleveland Clinic, Cleveland, OH, ⁵Cincinnati Children's Hospital, Cincinnati, OH
Background/Purpose: Pediatric uveitis is commonly associated with rheumatic disease and can lead to sight-threatening complications if not properly treated. Systemic immunomodulatory therapy has dramatically changed…
Abstract Number: 077 • 2023 Pediatric Rheumatology Symposium
Clinical Characteristics of Chronic Recurrent Multifocal Osteomyelitis or Chronic Nonbacterial Osteomyelitis in Pediatrics; Single Center Study in Korea
Minji Kim¹, Jieun Jeong¹, Jiwon Jung², Seong Heon Kim¹ and Seon Hee Lim³, ¹Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Republic of Korea, ²Asan Medical Center Children's Hospital, Seoul, Republic of Korea, ³Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan, Republic of Korea
Background/Purpose: CRMO is an autoinflammatory bone disease which has a recurrent bone pain as a symptom. It causes problems in various organs, including joints, skin,…
Abstract Number: 078 • 2023 Pediatric Rheumatology Symposium
Periodic Fever Syndrome and Myelodysplastic Syndrome: Possible Connections Between Two Disorders
Ivanna Romankevych¹, Nicole Torres², Imani Sanders¹, Laurent King¹ and Pedro Garcia Rodriguez¹, ¹Jackson Health System, University of Miami Miller School of Medicine, Miami, FL, ²University of Miami Miller School of Medicine, Miami, FL
Background/Purpose: Background: associations between autoimmune, immunodeficiency and hematological disorders are well known as well as with autoinflammatory conditions. Modern genetic testing allows to link these…

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