Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0778 • ACR Convergence 2025
Clinical significance of non-infectious increased procalcitonin in Still’s disease: A predictor of macrophage activation syndrome
Erdem Bektas¹, Burcu Ceren Uludogan², Büşra Fırlatan Yazgan³, Ozgur Can Kilinc⁴, Beste Acar⁴, Oguzhan Omer Kizilkaya⁴, Aysenur Yilmaz⁵, Busra Yuce⁶, serdal Ugurlu⁷, Umut Kalyoncu³, Timucin Kasifoglu² and Cemal Bes⁸, ¹Istanbul University, Institute of Graduate Studies in Health Sciences, Immunology, Istanbul, Turkey, ²Division of Rheumatology, Department of Internal Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey, ³Division of Rheumatology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey, Ankara, Turkey, ⁴Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey, ⁵Department of Rheumatology, Basaksehir Cam and Sakura City Hospital, University of Health Sciences, Istanbul, Turkey, ⁶Department of Internal Medicine, Basaksehir Cam and Sakura City Hospital, University of Health Sciences, Istanbul, Turkey, ⁷Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ⁸University of Health Sciences, Basaksehir Çam and Sakura City Hospital, Istanbul, Turkey
Background/Purpose: Still's disease (SD) is a autoinflammatory disease (AID) characterized by a wide range of clinical manifestations and can exhibit life-threatening macrophage activation syndrome (MAS).…
Abstract Number: 2666 • ACR Convergence 2025
Rare TNFAIP3 Hypomorphic Variants are a Massively Underestimated Driver of Human Autoinflammatory Disease
Danica Lee¹, Urekha Karri², Yiming Luo³, Kader Cetin Gedik⁴, Manuel Carpio Tumba⁵, Prabal Chhibbar⁶, Priyamvada Roy⁶, Guido Falduto⁷, Jishnu Das⁵ and Daniella Schwartz⁵, ¹University of Pittsburgh School of Medicine, Pittsburgh, PA, ²School of public health, Pittsburgh, PA, ³Columbia University, New York, NY, ⁴UPMC Children's Hospital of Pittsburgh/University of Pittsburgh, Pittsburgh, PA, ⁵University of Pittsburgh, Pittsburgh, PA, ⁶University of Pittsburgh School of Medicine, Pittsburgh, ⁷University of Pittsburgh Medical Center, Pittsburgh, PA
Background/Purpose: TNFAIP3 encodes the ubiquitin editing enzyme A20, which inhibits multiple proinflammatory signaling pathways. Heterozygous germline mutations in TNFAIP3 cause the autoinflammatory disease Haploinsufficiency of…
Abstract Number: 2125 • ACR Convergence 2025
Development and Validation of Minimal Clinically Important Difference for Children with Chronic Nonbacterial Osteomyelitis Using a Consensus and Data-Driven Approach
Farzana Nuruzzaman¹, Natalie Rosenwasser², Xing Wang³, Ava Klein³, Ian Muse⁴, Erin Balay-Dustrude⁵, Megan Nguyen⁶, Emily Deng³, Jonathan Akikusa⁷, Matthew Basiaga⁸, Lindsey Bergstrom⁹, Fatma Dedeoglu¹⁰, Bin Huang¹¹, Jenna King¹², Sivia Lapidus¹³, Tzielan Lee¹⁴, Cassandra Levesque¹⁵, Aleksander Lenert¹⁶, Lillian Lim¹⁷, Kimberly Martin¹⁸, Elizabeth Murray¹⁹, Melissa Oliver²⁰, Karen Onel²¹, Seza Özen²², Lauren Potts²³, Sara M. Stern²⁴, Robin Villaverda²⁵, Eveline Wu²⁶, Ronald laxer²⁷, Polly Ferguson²⁸, Daniel Lovell²⁹ and Yongdong (Dan) Zhao³⁰, ¹Stony Brook Children's Hospital, Stony Brook, NY, ²Seattle Children's Hospital, seattle, WA, ³Seattle Children's Hospital, Seattle, ⁴University of Washington, Department of Pediatrics, Seattle Children's Hospital, Seattle, ⁵University of Washington, Seattle, WA, ⁶Seattle Children’s Research Institute, Seattle, ⁷The Royal Children's Hospital, Parkville, Victoria, Australia, ⁸Mayo Clinic, Rochester, MN, ⁹Patient/parent research partner, Harpswell, ME, ¹⁰Boston Children's Hospital, Boston, MA, ¹¹Cincinnati Children's Hospital, Cinciannati, OH, ¹²Patient/parent Research Partner, Planation, FL, ¹³Joseph M. Sanzari Children's Hospital, Center for Discovery and Innovation, Hackensack Meridian School of Medicine, Montclair, NJ, ¹⁴Stanford University School of Medicine, Palo Alto, CA, ¹⁵Patient/parent research partners, DC district, DC, ¹⁶Iowa Carver College of Medicine, Iowa City, IA, ¹⁷University of Alberta, Edmonton, AB, Canada, ¹⁸Patient/parent research partners, Houston, TX, ¹⁹Patient/parent research partners, Lynnwood, WA, ²⁰Indiana University, Indianapolis, IN, ²¹HSS, New York, NY, ²²Hacettepe University Medical Faculty, Ankara, Turkey, ²³Patient/parent research partners, Santa Cruiz, CA, ²⁴University of Utah, Salt Lake City, UT, ²⁵Patient/parent research partners, Thorton, CO, ²⁶UNC Chapel Hill, Chapel Hill, NC, ²⁷The Hospital for Sick Children, Toronto, ON, Canada, ²⁸University of Iowa Carver College of Medicine, Iowa City, IA, ²⁹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³⁰Seattle Children’s Research Institute, Redmond, WA
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an inflammatory bone disease that can result in bone deformity, persistent pain and pathological fractures which is frequently treated…
Abstract Number: 1670 • ACR Convergence 2025
Large Retrospective Cohort Study Of Chronic Recurrent Multifocal Osteomyelitis: Disease Presentation, Clinical, And Laboratory Features
Shima Yasin¹, Shima Yasin² and Polly Ferguson³, ¹King Abdullah Specialized Children’s Hospital,Ministry of National Guard Health Affairs, Jeddah, Saudi Arabia, ²Univeristy of Iowa, Iowa City, ³University of Iowa Carver College of Medicine, Iowa City, IA
Background/Purpose: Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disease that affects children and adolescents. The disease typically presents with bone pain with or…
Abstract Number: 1169 • ACR Convergence 2025
Periodontitis in neutropenic DADA2 patients
Lorena Wilson¹, Amanda Ombrello², Patrycja Hoffmann³, Cornelia Cudrici³, Tina Romeo⁴ and Daniel L. Kastner⁵, ¹National Institutes of Health, Silver Spring, ²National Institutes of Health, Rockville, MD, ³National Insitutes of Health, Bethesda, ⁴NIH, Bethesda, MD, ⁵National Human Genome research Institute (NHGRI), National Institutes of Health (NIH), Bethesda
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease caused by pathogenic mutations in ADA2. Severe and refractory neutropenia is a hematologic…
Abstract Number: 0494 • ACR Convergence 2025
LFD-200, an Antibody Drug Conjugate that Selectively Delivers a Glucocorticoid Payload to Immune Cells, Provides Sustained Anti-inflammatory Effects Without Systemic Toxicity in Non-human Primates
Matt McClure¹, Catherine Carriere¹, Kierstin Bell¹, Rex Williams², Geoff Kuesters², Emily Sansevere², Dave Nichols², Arthur Tzianabos² and Jay Rothstein¹, ¹Lifordi Immunotherapeutics, Lebanon, NH, ²Lifordi Immunotherapeutics, Burlington, MA
Background/Purpose: Glucocorticoids (GCs) are the most versatile and efficacious anti-inflammatory drugs rheumatologists have available for patients. Unfortunately, prolonged systemic GC exposure leads to unacceptable toxicities,…
Abstract Number: 2608 • ACR Convergence 2025
Metabolic dysfunction-Associated Steatotic Liver Disease, Cardiometabolic Risk Factors, and Cardiac Manifestations in Psoriasis
Maria Dons¹, Charlotte Näslund-Koch², Morten Sengeløv³, Sofie Bøgh-Sørensen³, Kristoffer Skaarup³, Marianne Bengtson Løvendorf⁴, Filip Davidovski³, Anne Marie Reimer Jensen³, Brittany Weber⁵, Lise Lotte Gluud⁶, Claus Zachariae², Lone Skov² and Tor Biering-Sørensen³, ¹Copenhagen University Hospital Gentofte, Copenhagen, Hovedstaden, Denmark, ²Dep. of Dermatology and Allergy, Copenhagen University Hospital – Herlev & Gentofte, Copenhagen, Hovedstaden, Denmark, ³Center for Translational Cardiology and Pragmatic Randomized Trials, Dep. of Cardiology, Copenhagen University Hospital - Gentofte, Copenhagen, Hovedstaden, Denmark, ⁴Department of Dermatology and Allergy, Copenhagen University Hospital – Herlev & Gentofte, Copenhagen, Hovedstaden, Denmark, ⁵Brigham and Women's Hospital, DEDHAM, MA, ⁶Gastro Unit, Copenhagen University Hospital – Hvidovre, Copenhagen, Hovedstaden, Denmark
Background/Purpose: Metabolic dysfunction-associated steatotic liver disease (MASLD) is increasingly recognized as a cardiometabolic risk factor. Individuals with psoriasis have a high prevalence of MASLD, yet…
Abstract Number: 2046 • ACR Convergence 2025
Utilization of the All of Us Research Program to Study the Impact of Genetic Background on Autoinflammatory Diseases
Song Wu¹, Zuoming Deng², Peter Gorevic¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
Background/Purpose: A widely recognized model of disease pathogenesis is the potential interplay of gene x gene x environment. Low penetrance variants in the NOD-like receptor…
Abstract Number: 1667 • ACR Convergence 2025
Recurrent or Incident Pericarditis With Concurrent Autoimmune Disease: Stable Control With Rilonacept Interleukin-1 Pathway Inhibition
Zachary Daniel¹, Summia Afridi¹, Michael Allen² and Khoa Ngo¹, ¹Albany Medical College, Albany, NY, ²Albany Med, Albany, NY
Background/Purpose: Up to 30% of patients with incident pericarditis will develop recurrent pericarditis (RP), with severe impact on quality of life. More than 20% of…
Abstract Number: 1166 • ACR Convergence 2025
Biomarkers Associated with Left Atrial Structure and Function in Individuals with Psoriasis
Julie Borchsenius¹, Maria Dons², Morten Sengeløv³, Flemming Olsen⁴, Caroline Espersen⁴, Kristoffer Skaarup³, Mats Lassen⁴, Niklas Johansen⁴, Filip Davidovski³, Manan Pareek⁴, Brittany Weber⁵, Claus Zachariae⁶, Lone Skov⁶ and Tor Biering-Sørensen³, ¹CTCPR / Center for translational cardiology and pragmatic research trials, Charlottenlund, Denmark, ²Copenhagen University Hospital Gentofte, Copenhagen, Hovedstaden, Denmark, ³Center for Translational Cardiology and Pragmatic Randomized Trials, Dep. of Cardiology, Copenhagen University Hospital - Gentofte, Copenhagen, Hovedstaden, Denmark, ⁴CTCPR / Center for translational cardiology and pragmatic research trials, Copenhagen, Denmark, ⁵Brigham and Women's Hospital, DEDHAM, MA, ⁶Dep. of Dermatology and Allergy, Copenhagen University Hospital – Herlev & Gentofte, Copenhagen, Hovedstaden, Denmark
Background/Purpose: Individuals with psoriasis are at increased risk of developing heart disease. Echocardiographic parameters of impaired left atrial (LA) strain (Peak atrial contraction and longitudinal…
Abstract Number: 0269 • ACR Convergence 2025
Clinical Landscape and Severity Markers of VEXAS Syndrome in a Spanish Cohort: Findings from VEXASSER Study Group
Paula García-Escudero¹, Marta López², Berta Magallares³, Dolly Viviana Fiallo Suárez⁴, Diego Dios Santos⁵, César Antonio Egües Dubuc⁶, Santos Castañeda⁷, Alicia Garcia⁸, Isla Morante Bolado⁹, Elena María Oliver García¹⁰, Clara Garcia Belando¹¹, Cristina Corrales¹², Francisco Javier Toyos¹³, Judit Font-Urgelles¹⁴, Meritxell Salles Lizarzaburu¹⁵, Carolina Merino¹⁶, Irene Carrion¹⁷, Jose Angel Hernandez¹⁸, Lourdes Villalobos¹⁹, Alina-Lucica Boteanu²⁰, Beatriz Frade Sosa²¹, cristiana Sieiro²², Irene Monjo Henry²³, Ernesto Trallero²⁴, Eugenia Enriquez²⁵, Maria Rodriguez²⁶, Elena Riera Alonso²⁷, Marta Ibañez²⁸, Delia Reina²⁹, Rafael Benito Melero González³⁰, Giuliano Boselli³¹, Alberto Mariano³², Ignacio Vázquez Gómez³³, Jose Alberto Miranda³⁴, Clara Moriano³⁵, Elena Aurrecoechea³⁶, Paloma Vela Casasempere³⁷, Iñigo Rúa-Figueroa³⁸ and Jaime Calvo³⁹, ¹Hospital Universitario Álava, Bilbao, Spain, ²Complex Hospitalari Universitari Moisés Broggi, Barcelona, Spain, ³Hospital de Sant Pau, Bareclona, ⁴H.U. Doctor Negrín, Gran Canarias, ⁵C. H. U. A Coruña, A Coruña, Spain, ⁶Rheumatology Department, Donostia University Hospital., San Sebastian, Spain, ⁷Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, ⁸Rheumatologist, La Laguna, Spain, ⁹Rheumatology, Hospital General Sierrallana, Torrelavega, Spain., Santander, ¹⁰H.C. U. Lozano Blesa, Zaragoza, ¹¹H.C. U. Virgen de la arrizaca, Murcia, ¹²HOSPITAL UNIVERSITARIO MARQUES DE VALDECILLA, Santander, Spain, ¹³Virgen Macarena University Hospital,, Sevilla, Spain, ¹⁴Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹⁵Rheumatology Department, Althaia Xarxa Assistencial Universitària Manresa Manresa (Spain)., Manresa, Spain, ¹⁶Rheumatology department. Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda (Madrid), Madrid, Spain, ¹⁷Hospital del Mar, Barcelona, Spain, ¹⁸Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran CanariaHospital, Spain, ¹⁹Ramon y Cajal Hospital, MADRID, Spain, ²⁰H.U. Ramón y Cajal, Madrid, Spain, ²¹Hospital Clinic de Barcelona, Barcelona, Catalonia, Spain, ²²Univrsity of Manchester, Manchester, United Kingdom, ²³Hospital Universitario La Paz, Madrid, Spain, ²⁴H. U. Vall d'Hebron, Barcelona, ²⁵Clínica Universidad de Navarra, Madrid, Spain, ²⁶H. Clínico San Carlos, Madrid, Spain, ²⁷Hospital Universitari Mùtua Terrassa, Terrassa, Spain, ²⁸Hospital Universitario de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain, ²⁹Complex Hospitalari Moisès Broggi, Barcelona, Spain, ³⁰C. H. U. de Ourense, Ourense, ³¹Rheumatology Division, Hospital Universitario Miguel Servet , Zaragoza, Spain, Zaragoza, Aragon, Spain, ³²Virgen del Rocío University Hospital, Sevilla, Spain, ³³H.U. Doctor Peset, Valencia, ³⁴C. H. U. Lucus Augusti, Lugo, Spain, ³⁵Hospital León, LEON, Castilla y Leon, Spain, ³⁶H. Sierrallana, Santander, ³⁷Hospital General Universitario Alicante, Alicante, Comunidad Valenciana, Spain, ³⁸Hospital de Gran Canaria Doctor Negrin, Las Palmas GC, Spain, ³⁹Department of Rheumatology, Hospital Universitario Araba, School of Medicne, Universidad del País Vasco, BIOARABA Health Research Institute, Vitoria, Spain, Vitoria, Pais Vasco, Spain
Background/Purpose: VEXAS syndrome is a rare disease caused by somatic mutations in UBA1 gene. Different mutations in this gene appear to be associated with specific…
Abstract Number: 2582 • ACR Convergence 2025
Inflammatory Cell Death and Impaired Efferocytosis Drive Monocyte and Macrophage Dysfunction in VEXAS Syndrome.
Paul Breillat¹, Samuel Magaziner², Stéphane Camus³, Lea Dionet⁴, Quentin Delcros⁵, Federica Pallotti⁶, Kevin Chevalier⁵, Margot Poux⁷, Olivia Lenoir⁸, Pierre-Louis Tharaux⁵, Olivier Kosmider⁹, David Beck¹⁰ and Benjamin Terrier¹¹, ¹INSERM, PARIS ¹⁷, Ile-de-France, France, ²Center for Human Genetics and Genomics, NYU Grossman School of Medicine, New York, NY, USA., New York, NY, ³Université de Paris, INSERM UMR⁹⁷⁰, Paris Cardiovascular Research Center, Paris, France., PARIS, France, ⁴INSERM, Paris, France, ⁵Paris Cardiovascular Research Center, Université Paris Cité, INSERM U⁹⁷⁰, Paris, France, PARIS, France, ⁶Internal Medicine and Clinical Immunology, Rennes, France, ⁷Université de Paris, PARIS ⁰⁴EME, France, ⁸Paris Cardiovascular Research Center, Université Paris Cité, INSERM U⁹⁷⁰, Paris, France, PARIS, Ile-de-France, France, ⁹AP-HP, Hopital Cochin, Institut Cochin, CNRS UMR⁸¹⁰⁴, INSERM U¹⁰¹⁶ Université Paris Cité Paris France., PARIS, France, ¹⁰Center for Human Genetics and Genomics, NYU Grossman School of Medicine. Division of Rheumatology, Department of Medicine, NYU Grossman School of Medicine. Department of Biochemistry and Molecular Pharmacology, NYU Grossman School of Medicine, New York, NY, USA, New York, NY, ¹¹Cochin Hospital, Paris, France
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a life-threatening systemic disorder characterized by inflammation and increased risk of opportunistic infections. VEXAS results from…
Abstract Number: 2044 • ACR Convergence 2025
Infections and Associated Mortality in VEXAS Syndrome: A Systematic Review and Meta-Analysis
Oyku Zeynep Avarbek¹, Ozlem Arikan², Aysu Tatari³, Furkan Ak⁴, Bengisu Gur⁵, Sinem Nursel Duzenci⁶, Yasin Taha Tuncar⁷, Mustafa Sivri⁸, Mustafa Ovayolu⁹ and Miray Kurtca¹⁰, ¹Bezmialem Vakif University, Faculty of Medicine, Istanbul, Türkiye, Istanbul, Turkey, ²Istanbul Aydin University, Faculty of Medicine, Istanbul, Türkiye, Istanbul, Turkey, ³Pamukkale University, Faculty of Medicine, Denizli, Türkiye, Denizli, Turkey, ⁴Sofia University St. Kliment Ohridski, Faculty of Medicine, Sofia, Bulgaria, Sofia, Bulgaria, ⁵Istanbul University, Istanbul Faculty of Medicine, Istanbul, Türkiye, Istanbul, Turkey, ⁶Balikesir University, Faculty of Medicine, Balikesir, Türkiye, Balikesir, Turkey, ⁷Akdeniz University, Faculty of Medicine, Antalya, Türkiye, Istanbul, Turkey, ⁸Gazi University, Department of Emergency Medicine, Ankara, Türkiye, Ankara, Turkey, ⁹Hacettepe University, Faculty of Medicine, Ankara, Türkiye, Ankara, Turkey, ¹⁰Richmond University Medical Center, Department of Internal Medicine, Staten Island, NY
Background/Purpose: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a late-onset, monogenic autoinflammatory disorder driven by somatic mutations in the UBA1 gene of hematopoietic…
Abstract Number: 1665 • ACR Convergence 2025
Comparative Effectiveness of Biologic Versus Conventional Therapy in Uveitis with Systemic Rheumatic Diseases: Real-World Evidence from a Propensity-Matched Cohort
Hanieh Akbari¹ and shahrzad Abdollahi², ¹Jefferson Einstein Montgomery Medical Center, Norristown, PA, ²Jefferson Einstein Philadelpha, Philadelphia, PA
Background/Purpose: Uveitis is a vision-threatening manifestation of systemic rheumatic diseases. While conventional immunosuppressants are typically first-line, biologics are often reserved for refractory cases. Long-term real-world…
Abstract Number: 1159 • ACR Convergence 2025
IL-18 Correlates with Pouchot Score and Inflammatory Biomarkers in Adult-Onset Still’s Disease: Insights From a Repeated Measures Study
Hadeel Abdul-Rehman¹, Karen Gambina² and Bella Mehta³, ¹Hospital for Special Surgery, New York, NY, ²Columbia University Medical Center, Islip, NY, ³Hospital for Special Surgery, Weill Cornell Medicine, Jersey City, NJ
Background/Purpose: Adult-Onset Still’s Disease (AOSD) is a rare systemic inflammatory disease. Interleukin-18 (IL-18) levels are significantly elevated in AOSD patients¹ and may be a promising…

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