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Abstracts tagged "Autoinflammatory diseases"

  • Abstract Number: 0237 • ACR Convergence 2025

    Monogenic autoinflammatory diseases and undefined autoinflammatory syndrome in Western Mediterranean adults: clinical, genetic, and therapeutic insights

    Alba Maria Torrat Noves1, José Ivorra Cortes2, Alejandro Jose Mateo Vendrell2, ELENA GRAU GARCIA3, Pablo Muñoz Martinez2, Laura Mas Sanchez4, Daniel Ramos Castro5, Iago Alcántara Álvarez6, Belen Villanueva Manes7, Andres perez Hurtado2, Miguel Simeo Vinaixa2, inmaculada Calvo Penades8, Berta López Montesinos8, Lucia Lacruz-perez8 and José Andrés Román Ivorra9, 1Hospital Universitari i Politècnic La Fe de Valencia, Valencia, Spain, 2Rheumatology Department. HUP La Fe, Valencia, Spain, 3HUP La Fe, Valencia, Comunidad Valenciana, Spain, 4Hospital Universitari i Politecnic La Fe, València, Spain, 5Hospital Universitari i Politecnic La Fe, Valencia, Spain, 6Hospital Universitari i Politénic La Fe, València, Spain, 7Hospital La Fe, València, Spain, 8Pediatric Rheumatology Department. HUP La Fe, Valencia, Spain, 9Hospital Universitari i Politècnic La Fe, Valencia, Spain

    Background/Purpose: Monogenic autoinflammatory diseases are rare innate immunity disorders characterized by recurrent episodes of fever and systemic inflammation. They are most often described in childhood,…
  • Abstract Number: 2154 • ACR Convergence 2025

    Whole-Body MRI Findings in a Cohort of  Children with Chronic Nonbacterial Osteomyelitis

    Mara Rodriguez1, Maurice Davenport Munoz2, Kiery Braithwaite3, Lori Ponder4, Kelly Rouster-Stevens5, Solveig Argeseanu Cunningham6 and Sampath Prahalad7, 1Emory University School of Medicine / Children's Healthcare of Atlanta, Atlanta, GA, 2Emory University School of Medicine, Pediatrics, Atlanta, 3Children's Healthcare of Atlanta, Atlanta, GA, 4Emory University, Atlanta, GA, 5Emory University/Children's Healthcare of Atlanta, Peachtree Corners, GA, 6Emory Rollins School of Public Health Department of Global Health, Atlanta, GA, 7Emory + Children's Pediatric Institute, Atlanta, GA

    Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disorder characterized by multifocal, sterile bone inflammation in childhood. Whole-body magnetic resonance imaging (WB-MRI) allows for…
  • Abstract Number: 1889 • ACR Convergence 2025

    Navigating Diagnostic Challenges: Insights into the Patient Journey and Delays in Diagnosing Dermatomyositis from a Real-world Survey in the United States and Europe

    Esther Yi1, Jason Xenakis1, Chris Blazos2, Jade Garratt-Wheeldon2, James Piercy2, Peter Anderson2 and Rohit Aggarwal3, 1Pfizer Inc., New York, United States of America, New York, 2Adelphi Real World, Bollington, United Kingdom, Bollington, United Kingdom, 3University of Pittsburgh, Rheumatology and Clinical Immunology, Pittsburgh, United States of America, Pittsburgh, PA

    Background/Purpose: Idiopathic inflammatory myopathies (IIMs) are a heterogenous group of rare autoimmune inflammatory rheumatic diseases, including dermatomyositis (DM).Methods: Data were drawn from the Adelphi Real…
  • Abstract Number: 1305 • ACR Convergence 2025

    Clinical outcomes of low-to-moderate–dose glucocorticoids in multisystem inflammatory syndrome in children (MIS-C) – a multicenter study

    Nina Shirman1, Liora Harel2, Gil Amarilyo3, Kfir Kaidar4, Yonatan Butbul Aviel5, Merav Heshin Bekenstein6, Mohamad Hamad Saied7, Ofra Goldzweig8, Adi Miler9 and Yoel Levinsky10, 1Schneider children's medical center of Israe, Tel Aviv, Israel, 2Schneider Children's Medical center, Nettnja, Israel, 3Schneider Children's Medical Center of Israel, Kibbutz Maggal, Israel, 4Pediatric rheumatology, Schneider children's medical center of Israel, Petah Tikva, Israel, 5Pediatric rheumatology, Technion Faculty of Medicine, Haifa, Israel, 6Tel Aviv Medical Center Israel, Binyamina, Tel Aviv, Israel, 7Carmel Medical Centre, Technion Faculty of Medicine, Haifa, Israel, 8Pediatric rheumatology unit, Kaplan medical canter, Rehovot, Israel, 9Pediatric rheumatology unit, Technion Faculty of Medicine, Haifa, Israel, 10Schneider Children's Medical Cenetr of Israel, Tel Aviv University, JERUSALEM, Israel

    Background/Purpose: Multisystem Inflammatory Syndrome in Children (MIS-C) is an autoinflammatory disease following SARS-CoV-2 exposure. The optimal treatment strategy remains under investigation, though intravenous immunoglobulin (IVIG)…
  • Abstract Number: 1056 • ACR Convergence 2025

    High diagnostic rate of genetic testing in adult patients with autoinflammation: A Single Center Experience

    Atif Towheed1, Joshua Owens2, Ann Parody1 and Daniella Schwartz3, 1University of Pittsburgh Medical Centre, Pittsburgh, 2UPMC Children’s Hospital of Pittsburgh, Pittsburgh, 3University of Pittsburgh, Pittsburgh, PA

    Background/Purpose: Inborn errors of immunity (IEI), including autoinflammatory diseases and primary immune regulation disease (PIRD), are unfamiliar to many adult rheumatologists, leading to potential ascertainment…
  • Abstract Number: 0082 • ACR Convergence 2025

    IBI3011, a Humanized anti-IL1RAP Monoclonal Antibody, Inhibits IL1, IL33, IL36-driven Inflammation Pathway, and Attenuates Inflammation in Preclinical Inflammatory Disease Model

    Hongling Tian, Lidan Liang, Chenjuan Zhu, Bin Li, Lei Cao, Meng Ni, Fan Chen, Zhimin Zhang, Min Wu, Tong Liu, Jinyang Li, Yao Xiong, Li Li, Shuaixiang Zhou, Enhong Zhong and Huizhong Xiong, Innovent Biologics (Suzhou) Co., Ltd., Suzhou, Jiangsu, China (People's Republic)

    Background/Purpose: Interleukin 1 receptor accessory protein (IL1RAP) serves as a co-receptor that forms receptor complexes with IL1R1, ST2, and IL36R and mediates signaling pathways triggered…
  • Abstract Number: 2152 • ACR Convergence 2025

    Blau Syndrome: features beyond the classic triad and proposal for clinical criteria

    Narendra Bagri1, Nawazish Shaikh2, Manisha jana3, Sushain kalsotra4, Krithika Rajkumar2, Madhumita Roy Chowdhury2, Neerja Gupta2, Danveer Bhadu5, Vishal Gupta2 and Rohan Chawla2, 1All India Institute of Medical Sciences(AIIMS), New Delhi, Delhi, India, 2All India Institute of Medical Sciences, Delhi, Delhi, India, 3ALL INDIA INSTITUTE OF MEDICAL SCIENCES, Delhi, 4All India Institute of Medical Sciences, Delhi, India, 5All India Institute of Medical Sciences, New Delhi, New Delhi, Delhi, India

    Background/Purpose: This study describes the characteristic clinical and radiological findings and outcomes of patients with Blau syndrome from a single tertiary care hospital.Methods: A retrospective…
  • Abstract Number: 1877 • ACR Convergence 2025

    Demographics and trends of Inflammatory Arthritis-Related Mortality in the United States, 1999–2019

    Aishwarya Sudheer1, Ishan Jani2, Sarath Lal Mannumbeth Renjithlal2 and Qi Wang3, 1Saint Vincent Hospital, Worcester, MA, 2Rochester General Hospital, Rochester, NY, 3Metrohealth System/Case Western Reserve University, Cleveland, OH

    Background/Purpose: The study aims to evaluate the racial, sex-related and urbanization-related trends of deaths in patients with inflammatory polyarthropathies in the United States between 1999…
  • Abstract Number: 1303 • ACR Convergence 2025

    Impact of Fruits and Vegetables Intake on Immune-mediated Inflammatory Diseases:a Two-sample Mendelian Randomization Study

    Xuemei Tang, Yuting Zhou, Yuxiao Chen, Xinglin Wu and Qiang Luo, Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China, Chongqing, China (People's Republic)

    Background/Purpose: A balanced diet can prevent diseases and promote physical and mental health. Accumulating evidence shows that fruits and vegetables (F&Vs) intake is associated with…
  • Abstract Number: 0929 • ACR Convergence 2025

    SP2H, a Targeted Degrader of STimulator of INterferon Genes (STING), selectively inhibits STING-driven inflammation in vitro and in vivo and improves survival in Trex1-/- mice

    Martin Jakobsen1, Pernille Noer2, Kristina Byskov3, Emil Nilsson4, Laura Ryø5, Claus Olesen2 and Richard BETHELL6, 1Aarhus University, Aarhus, Denmark, 2Sulis Therapeutics, Aarhus, Denmark, 3Notify Therapeutics, Aarhus, Denmark, 4Sulis Therapeutics, Aarhus C, Denmark, 5Aarhus University Hospital, Aarhus, Denmark, 6Sulis Therapeutics, Stockholm, Sweden

    Background/Purpose: STING plays a critical role at the intersection of innate and adaptive immunity and has been linked to the pathogenesis of SSc and SLE.…
  • Abstract Number: 0050 • ACR Convergence 2025

    TL1A expression is upregulated in rheumatic diseases and anti-TL1A antibody reduces disease symptoms and pathological changes in rat collagen-induced arthritis

    Preeyam Patel1, Matthew Siegel2, Emily Lewis3, David Giles3, Justin LaFountaine3, Joshua Friedman3 and Andy Spencer3, 1Spyre Therapeutics, Waltham, 2Spyre Therapeutics, Menlo Park, CA, 3Spyre Therapeutics, Waltham, MA

    Background/Purpose: The development of disease-modifying anti-rheumatic drugs (DMARDs) has reduced disease activity in patients living with rheumatic diseases. Despite this, there is continued unmet need…
  • Abstract Number: 2151 • ACR Convergence 2025

    Real-World Experience with IL-1 Blockade in Children with Undifferentiated Systemic Autoinflammatory Diseases (uSAIDs)

    Maryam Ashoor1, Kosar Asna Ashari2, Kyle McBrearty2, Joyce Chang3, Jonathan Hausmann4 and Fatma Dedeoglu2, 1Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Brookline, MA, 2Boston Children's Hospital, Boston, MA, 3Boston Children's Hospital, Boston, 4Boston Children's Hospital, bosto, MA

    Background/Purpose: Systemic Autoinflammatory Diseases (SAIDs) are a group of rare disorders caused by dysregulation of the innate immune system. Over 50 genes have been identified…
  • Abstract Number: 1827 • ACR Convergence 2025

    Transcriptomics and Machine Learning Unraveling the Molecular Drivers of PFAPA Flares

    Sivia Lapidus1, Tresa Ambooken2, Ellen Hakim3, Tara Lozy4, Elahe Golalipour3, Sohail Adonimohammed5, Jennifer Weiss6, Suzanne Li6, Amanda Nowakowski7, Aryeh Lejtman8, Aaron Sebbag3, Ariel Aptekmann9 and Jigar Desai9, 1Joseph M. Sanzari Children's Hospital, Center for Discovery and Innovation, Hackensack Meridian School of Medicine, Montclair, NJ, 2Food and Drug Administration, Floral Park, NY, 3Center for Discovery and Innovation, Hackensack Meridian Health, Nutley, NJ, 4Joseph M. Sanzari Children's Hospital, Center for Discovery and Innovation, Hackensack Meridian School of Medicine, Nutley, 5Hackensack Meridian School of Medicine, Nutley, NJ, 6Joseph M. Sanzari Children's Hospital and Hackensack Meridian School of Medicine, Hackensack, NJ, 7Joseph M. Sanzari Children's Hospital, Hackensack Meridian Health, Hackensack, NJ, 8Joseph M. Sanzari Children's Hospital and Center for Discovery and Innovation, Hackensack Meridian Health, Nutley, NJ, 9Center for Discovery and Innovation and Hackensack Meridian School of Medicine, Hackensack Meridian Health, Nutley, NJ

    Background/Purpose: Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) is the most common periodic fever presenting with frequent episodes of pain and impaired function. While…
  • Abstract Number: 1302 • ACR Convergence 2025

    Dose Adjustment was Necessary in Patients with Cryopyrin-Associated Periodic Syndrome Switching from Anakinra to Canakinumab

    Soyoung Lee and Hyun Kyung Lee, Chung-Ang University Hospital, Seoul, Republic of Korea

    Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) is a spectrum of rare autoinflammatory disorders caused by mutations in the NLRP3 gene, leading to excessive interleukin-1β (IL-1 β)…
  • Abstract Number: 0920 • ACR Convergence 2025

    Functional Characterization of NEMO-NDAS Causing Variants in Patients’ PBMCs and in Wildtype and Mutant U937 Cells

    Elizabeth Morgan1, Bin Lin2, Sara alehashemi1, Adriana de Jesus1, Keith Kauffman3, Christopher Friend1, Farzana Bhuyan1, Kader Gedik1, Kat Uss1, Lauren Krausfeldt4, Jason Brenchley5, Zoran Gucev6, Kathryn Cook7, Vafa Mammadova8, Gulnara Nasrullayeva8, Mariana Correia Marques9, Abigail Bosk10, Brian Nolan11, Scott Canna12, Maude Tusseau13, Andrea Bohrer14, Katrin Mayer-Barber15, Timothy Moran16, Andrew Oler4, Daniel Barber3 and Raphaela Goldbach-Mansky1, 1Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology (LCIM), NIAID, NIH, Bethesda, MD, 2NIH, Bethesda, MD, 3T-Lymphocyte Biology Section, Laboratory of Parasitic Diseases, NIAID, NIH, Bethesda, MD, 4Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD, 5Barrier Immunity Section, Laboratory of Viral Diseases, NIAID, NIH, Bethesda, MD, 6University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, 7Akron Children’s Hospital, Akron, OH, 8Azerbaijan Medical University, Baku, Azerbaijan, 9Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 10Children’s National Hospital, Washington DC, 11Lurie Children’s Hospital, Chicago, 12Children's Hospital of Philadelphia, Philadelphia, PA, 13Hôpital Femme-Mère-Enfant, Bron, France, 14Inflammation and Innate Immunity Unit, Laboratory of Clinical Immunology and Microbiology (LCIM), NIAID, NIH, Bethesda, MD, 15Inflammation and Innate Immunity Unit, Laboratory of Clinical Immunology and Microbiology (LCIM), Bethesda, MD, 16University of North Carolina School of Medicine, Chapel Hill, NC

    Background/Purpose: NEMO-deleted 5 autoinflammatory syndrome (NEMO-NDAS) is an inflammatory disease caused by mosaic splice-site variants that lead to exon 5 skipping in IKBKG, encoding NEMO.…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM CT on October 25. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

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