Abstracts tagged "Autoinflammatory diseases"

Abstract Number: LB21 • ACR Convergence 2025
IDH1/2 Somatic Hotspot Mutations as Independent Drivers of Autoinflammation
Flore Castellan¹, Griffen Mustion², Mei-Kay Wong¹, Kimberly Johansson², Scott Goldberg¹, Yazan Madanat³, Namrata Chandhok⁴, Abhay Singh⁵, David Sallman⁶, Jane Churpek⁷, Curtis Lachowiez⁸, Jennifer Yannucci⁹, Luke Fletcher¹⁰, Matthew Schwede¹¹, Amber Afzal², Yael Kusne¹², Alejandro Marinos¹³, Alexander Coltoff¹⁴, Rickey Myhand¹⁵, Kiran Vij², Rosalyn Marar¹⁶, Hannah Mitchell², Maria Stoentcheva², Giulia Petrone², Kyra Ddungu², Hannah Hartman², Ryan Monahan², Karen Vandervort², Jie Liu², John Cole², Tibor Kovacsovics¹⁷, Hetty Carraway¹⁸, Tian Zhang¹⁹, Stephen Chung³, Geoffrey Uy², Eytan Stein²⁰, Devendra Hiwase²¹, Matthew Walter², Mrinal Patnaik¹⁶, Kelly Bolton²² and David Beck¹, ¹New York University School of Medicine, New York, New York, ²Washington University School of Medicine, Saint Louis, Missouri, ³UT Southwestern Medical Center, Dallas, Texas, ⁴University Miami Miller School of Medicine, Miami, Florida, ⁵Cleveland Clinic, Cleveland, Ohio, ⁶Moffitt Cancer Center, Tampa, Florida, ⁷University of Wisconsin School of Medicine, Madison, Wisconsin, ⁸Oregon Health & Science University, Portland, Oregon, ⁹Low Country Cancer Care, Savannah, Georgia, ¹⁰Willamette Valley Cancer Institute and Research Center, EUgene, Oregon, ¹¹Swedish Health Services, Seattle, Washington, ¹²Mayo Clinic, Phoenix, Arizona, ¹³UTSouthwestern Medical Center, Dallas, Texas, ¹⁴Medical University of South Carolina, Charleston, South Carolina, ¹⁵CovenantOntology & Hematology, Frankfort, Kentucky, ¹⁶Mayo Clinic, Rochester, Minnesota, ¹⁷City of Hope, Goodyear, Arizona, ¹⁸Case Western Reserve University, Cleveland, Ohio, ¹⁹Stanford Medicine, Stanford, California, ²⁰Memorial Sloan Kettering Cancer Center, New York, New York, ²¹Adelaide Medical School, Adelaide, South Australia, Australia, ²²Washington University School of Medicine, Saint Louis, Minnesota
Background/Purpose: Recently, somatic mutations in hematopoietic stem and progenitor cells (HSPCs) have been proposed as a novel mechanism driving systemic inflammation. UBA1 somatic variants in…
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.…
Abstract Number: 0030 • ACR Convergence 2025
Immune-related Diagnoses Associated with NOD2 Variants in Human Subjects: A Phenome-wide Association Study
John Davis¹, Elizabeth Atkinson¹, Vanessa Kronzer¹, Cynthia Crowson², Afsaneh Alavi³, John Damianos¹, Loftus Edward¹, Joseph Murray¹, Ann Moyer¹ and Filippo Pinto e Vairo¹, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic, Stewartvillle, MN, ³Department of Dermatology, Mayo Clinic, Rochester, MN
Background/Purpose: The nucleotide-binding oligomerization domain-containing protein 2 (NOD2) gene is associated with risk for several inflammatory diseases, including Crohn disease, Blau syndrome, and Yao syndrome…
Abstract Number: 2141 • ACR Convergence 2025
Treatment of Refractory Still’s/Systemic Juvenile Idiopathic Arthritis Lung Disease with the bi-specific IL-1Beta/IL-18 neutralizing antibody MAS825
Hallie Carol¹, Monica Manglani², Abass Noor², Edward Behrens³, Jon Burnham⁴, Jessica Lee², Jordan Moreno², Alexandra Chop⁵, Kader Cetin Gedik⁶, Catherine Poholek⁷, Ginger Janow⁸, Lindsay Waqar-Cowles¹ and Scott Canna¹, ¹Children's Hospital of Philadelphia, Philadelphia, PA, ²Children's Hospital of Philadelphia, Philadelphia, ³CHOP, West Chester, PA, ⁴Children's Hospital of Philadelphia, Bryn Mawr, PA, ⁵UPMC, Pittsburgh, PA, ⁶UPMC Children's Hospital of Pittsburgh/University of Pittsburgh, Pittsburgh, PA, ⁷University of Pittsburgh, Pittsburgh, PA, ⁸Joseph M. Sanzari Children's Hospital at Hackensack Meridian Health, Hackensack, NJ
Background/Purpose: Despite major advances in the understanding, diagnosis, and treatment of Still’s disease (including Systemic Juvenile Idiopathic Arthritis, sJIA), many patients experience a refractory course.…
Abstract Number: 1824 • ACR Convergence 2025
Tissue-Resident Natural Killer Cells May Drive Monocyte Differentiation And Macrophage Accumulation In The Inflamed Joints Of Pediatric Juvenile Idiopathic Arthritis Patients
Roselyn Fierkens¹, Jun Inamo², Clara Lin³, Nathan Rogers⁴, Kari Hayes¹, Heather Leach³ and Kentaro Yomogida¹, ¹University of Colorado, Aurora, CO, ²University of Colorado School of Medicine, Aurora, CO, ³Children's Hospital Colorado, Aurora, ⁴Children’s Hospital Colorado, Aurora, CO
Background/Purpose: Natural Killer (NK) cells are the most abundant innate lymphoid cells, accounting for 10–40% of total lymphocytes in peripheral blood. They adapt to diverse…
Abstract Number: 1191 • ACR Convergence 2025
Effect of ER Stress Inhibition With 4-Phenylbutyric Acid on Disease Phenotype in a Mouse Model of Myositis
Alfredo Guzman, Elizabeth Bagley, Rita Spathis, Madison King, Kanneboyina Nagaraju and Melissa Morales, Binghamton University, Johnson City, NY
Background/Purpose: Dysregulation of the ER stress and interferon (IFN) pathways play a major role in the pathophysiology of autoimmune myositis. Upregulation of ER stress markers…
Abstract Number: 0918 • ACR Convergence 2025
Retention of variant forms of TNFR1 in the Golgi induces stress responses and monocyte activation in systemic Juvenile Idiopathic Arthritis (sJIA)
Anthony Cruz¹, Krisztian Csomos¹, Boglarka Ujhazi¹, Hiroto Nakano², Marissa Krantz³, Sophia Chou⁴, Emily Rosenbaum¹, Tianmin Fu⁵, Dirk Foell⁶, Rae Yeung⁷, Pamela Weiss⁸, Faiza Naz⁹, Ly-Lan Bergeron¹, Michelle Millwood¹⁰, Carol Lake¹¹, Emely Verweyen⁶, Grant Schulert¹², Stefania Dell'orso⁹, Hao Wu¹³, Zuoming Deng¹⁴, davide Randazzo¹⁵ and Michael Ombrello¹⁶, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, ²NIAMS, NIH, Bethesda, MD, ³University of Rochester, Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Rockville, MD, ⁵Ohio State University College of Medicine, Columbus, OH, ⁶University Hospital Muenster, Muenster, Germany, ⁷The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁸Childrens Hospital of Philadelphia, Philadelphia, PA, ⁹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ¹⁰National Institutes of Health (NIH), Bethesda, MD, ¹¹NIH, GAITHERSBURG, MD, ¹²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ¹³Harvard University, Cambridge, MA, ¹⁴Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹⁵Light Imaging Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, Bethesda, ¹⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is severe and poorly understood inflammatory condition. Tumor necrosis factor receptor 1 (TNFR1) is activated by TNF and is…
Abstract Number: 0024 • ACR Convergence 2025
Biobank-scale genetic mapping identifies the shared genetic landscape of rheumatic and cardiovascular disease
Daniel Panyard¹, Daniel Li², Pik Fang Kho², Rodrigo Guarischi-Sousa³, Jiayan Zhou², Austin Hilliard⁴, Christie Bartels⁵, Philip Tsao² and Themistocles Assimes², ¹Stanford University, Sunnyvale, CA, ²Stanford University, Palo Alto, CA, ³Palo Alto Veterans Institute for Research, Palo Alto, CA, ⁴VA Palo Alto Health Care, Palo Alto, CA, ⁵University of Wisconsin School of Medicine and Public Health, Madison, WI
Background/Purpose: Patients with rheumatic conditions are at increased risk for cardiovascular (CV) problems, striking on average a decade before peers and conferring substantial morbidity and…
Abstract Number: 2136 • ACR Convergence 2025
Confirming The Validity Of The New EULAR/ACR Classification Criteria For Pediatric Chronic Nonbacterial Osteomyelitis
Greta Mastrangelo¹, Edan Itzkovitz², Katherine Sawicka³, Ingrid Goh⁴, Ari Bitnun⁵, Sevan Hopyan⁵, Paul Nathan², Ronald laxer¹ and Brian Feldman¹, ¹The Hospital for Sick Children, Toronto, ON, Canada, ²The Hospital for Sick Children, Toronto, ³The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁴University of Toronto The Hospital for Sick Children, Toronto, ON, Canada, ⁵The Hospital for Sick Children, Toronto, Canada
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is a noninfectious autoinflammatory bone disease which remains a diagnosis of exclusion, as existing diagnostic criteria are not widely accepted.…
Abstract Number: 1823 • ACR Convergence 2025
Genome-Wide DNA Methylation Analysis in Familial Mediterranean Fever
Kader Cetin Gedik¹, Desire Casares Marfil², Busra Baser Taskin³, Elif Kilic Konte⁴, Sezgin Sahin⁴, Mckenna Bowes², Ferhat Guzel⁵, Micol Romano⁶, Ozgur Kasapcopur⁷, Nuray Aktay Ayaz³, Erkan Demirkaya⁶ and Amr Sawalha², ¹UPMC Children's Hospital of Pittsburgh/University of Pittsburgh, Pittsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA, ³Istanbul University Medical School, Istanbul, Turkey, ⁴Istanbul University Cerrahpasa Medical School, Istanbul, Turkey, ⁵Department of Research and Development, Ant Biotechnology, Istanbul, Turkey, ⁶University of Western Ontario, London, ON, Canada, ⁷Istanbul University-Cerrahpasa, Cerrahpasa Medical School, istanbul, Turkey
Background/Purpose: Familial Mediterranean fever (FMF) is an autoinflammatory disease most commonly associated with biallelic mutations in the MEFV gene. Patients carrying the same pathogenic variant…
Abstract Number: 1186 • ACR Convergence 2025
Increased Adoption of IL-1 Pathway Inhibition and the Steroid-sparing Paradigm Shift: Temporal Trends in Recurrent Pericarditis Treatment From the RESONANCE Patient Registry
Paul Cremer¹, Michael Garshick², Sushil Allen Luis³, Ajit Raisinghani⁴, Brittany Weber⁵, Vidhya Parameswaran⁶, Allison Curtis⁶, Sue Gibbons⁶, Allan Klein⁷ and John Paolini⁶, ¹Cleveland Clinic, Shaker Heights, OH, ²NYU Langone Health, Tenafly, NJ, ³Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, ⁴Division of Cardiology, Department of Medicine, Sulpizio Cardiovascular Center, University of California San Diego, San Diego, CA, ⁵Brigham and Women's Hospital, DEDHAM, MA, ⁶Kiniksa Pharmaceuticals, LEXINGTON, MA, ⁷Cleveland Clinic, Cleveland, OH
Background/Purpose: Recurrent pericarditis (RP) is a chronic autoinflammatory disease mediated by IL-1 that requires long-term treatment. While the 2015 European Society of Cardiology Guidelines position…
Abstract Number: 0821 • ACR Convergence 2025
Flipping The Switch – Classical Complement Activation closely linked to IFN-signalling in Stills Disease
Freya Huijsmans¹, Alejandra Bodelón de Frutos¹, Lyanne Sijbers¹, Susanne Benseler², Joost Swart³, Rae Yeung⁴, Sebastiaan Vastert⁵ and Jorg van Loosdregt¹, ¹Pediatric Rheumatology & Immunology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, Utrecht, Netherlands, ²Cumming School of Medicine, Department of Pediatrics, University of Calgary, Calgary, AB, Canada, ³Wilhelmina Children's Hospital / UMC Utrecht, Utrecht, Utrecht, Netherlands, ⁴The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁵University Medical Center Utrecht, Utrecht, Utrecht, Netherlands
Background/Purpose: Stills disease (SD) is an autoinflammatory syndrome characterized by severe innate immune dysregulation. The complement system, an essential component of innate immunity, can drive…

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