Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0830 • ACR Convergence 2024
Activation of Autoreactive Lymphocytes in the Lung by STING Gain-of-function Mutation Expressing Radioresistant Cells
Kevin Gao¹, Kristy Chiang¹, Sharon Subramanian¹, Xihui Yin², Paul Utz³, Kerstin Nundel¹, Katherine A. Fitzgerald⁴ and Ann Marshak-Rothstein¹, ¹UMass Chan Medical School, Worcester, MA, ²Stanford University School of Medicine, Palo Alto, CA, ³Stanford University, Stanford, CA, ⁴UMass Chan Medical School, Worchester, MA
Background/Purpose: Gain-of-function mutations in STING, a critical mediator of dsDNA sensing, lead to a severe autoinflammatory syndrome known as STING-Associated Vasculopathy with onset in Infancy…
Abstract Number: 1125 • ACR Convergence 2024
Non-Classical Complications of Adult-Onset Still’s Disease: A Multicenter Spanish Study
Javier Narvaez-García¹, Maria Jesus García de Yebenes², Susana Holgado³, Alejandro Olive⁴, Ivette Casafont-Sole³, Santos Castañeda⁵, Cristina Valero⁶, María Martín López⁷, Patricia Carreira⁸, Maribel Mora Limiñana⁹, Laura Nuño¹⁰, Angel Robles Marhuenda¹¹, Pilar Bernabéu¹², J Campos Esteban¹³, Genaro Graña¹⁴, Vera Ortiz¹⁵, Marisol Camacho¹⁶, Carmen Vargas¹⁷, Judith Sanchez-Manubens¹⁸ and Jordi Anton¹⁹, ¹Hospital Universitario de Bellvitge, Barcelona, Spain, ²Instituto de Salud Musculoesquelética, Madrid, Spain, ³Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ⁴Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona, Spain, ⁵Hospital Universitario de la Princesa, Madrid, Spain, ⁶Hospital de la Princesa, Madrid, Spain, ⁷General University Hospital of Ciudad Real, Ciudad de México, Spain, ⁸Hospital Universitario 12 de Octubre, Madrid, Madrid, Spain, ⁹Parc Sanitari Sant Joan de Deu, Sant Boi, Barcelona, Spain, ¹⁰Hospital Universitario La Paz, Madrid, Spain, ¹¹Hospital Universitario La Paz, Madrid, Madrid, Spain, ¹²Rheumatology section, Dr. Balmis General University Hospital-ISABIAL, Alicante, Spain, Alicante, Spain, ¹³Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain, ¹⁴Complejo Hospitalario Universitario de A Coruña, La Coruña, Spain, ¹⁵Hospital General de Granollers, Barcelona, Spain, ¹⁶Hospital Universitario Virgen del Rocío, Sevilla, Spain, ¹⁷Hospital Universitario Virgen Macarena, Sevilla, Spain, ¹⁸Hospital Universitari Parc Taulí, Sabadell, Barcelona, Spain, ¹⁹Hospital Sant Joan de Déu, Barcelona, Spain
Background/Purpose: Adult-onset Still's disease (AOSD) is a rare systemic disorder characterized typically by fever, arthritis, skin rash, leukocytosis, and hyperferritinemia, which are the hallmarks of…
Abstract Number: 1958 • ACR Convergence 2024
Hemodynamic Forces: A Novel Cardiac MRI Parameter to Assess Cardiac Involvement in Sarcoidosis Patients
Aïcha Kante¹, Andreea Afana², Damien Sène³, Karine Champion³, Valentin Pagis⁴, William Bigot³, Véronique Delcey⁵, Amanda Lopes³, Abdellatif Tazi⁶, Blanca Amador Borrero⁴, Bruno Crestani⁷, Claire Baladi⁸, Valérie Bousson⁹, Trecy Goncalves¹⁰, Edouard Ballout¹⁰, Solenn Toupin¹⁰, stephane mouly³, Jean-Guillaume Dillinger¹¹, Patrick Henry¹¹, Theo Pezel¹¹ and Cloé Comarmond³, ¹Department of internal medicine, Centre de Compétence Maladies Rares autoimmunes et inflammatoires, Université Paris Cité, Paris, Ile-de-France, France, ²Department of Cardiology, University of Medicine and Pharmacy Craiova, Craiova, Romania, ³Department of internal medicine, Centre de Compétence Maladies Rares autoimmunes et inflammatoires, Lariboisière Hospital, Université Paris Cité, Paris, Ile-de-France, France, ⁴Department of internal medicine, Centre de Compétence Maladies Rares autoimmunes et inflammatoires, Lariboisière Hospital, Université Paris Cité, Paris, France, ⁵Department of Infectious diseases, Lariboisère University Hospital, Paris, Ile-de-France, France, ⁶National Reference Center for Histiocytoses, Department of Pulmonology, AP-HP, Saint-Louis Hospital, Paris, France, ⁷National Reference Center for Rare Pulmonary Diseases, Department of Pulmonology, AP-HP, Bichat Hospital, Paris, Ile-de-France, France, ⁸Université d’Angers, Department of Cardiology, University Hospital of Angers, Angers, France, ⁹Department of Radiology, Lariboisiere Hospital, (Assistance Publique des Hôpitaux de Paris, AP-HP), Paris, Ile-de-France, France, ¹⁰Department of Cardiology, Lariboisiere Hospital, (Assistance Publique des Hôpitaux de Paris, AP-HP), Paris, France, ¹¹Department of Cardiology, Lariboisiere Hospital, (Assistance Publique des Hôpitaux de Paris, AP-HP), Paris, Ile-de-France, France
Background/Purpose: Cardiac sarcoidosis (CS) is an underdiagnosed condition characterized by the formation of non-caseating granuloma in the myocardium, potentially leading to arrhythmia, acute heart failure,…
Abstract Number: 2176 • ACR Convergence 2024
Applying Similarity Network Fusion to Identify Patient Clusters for People with Systemic Inflammatory Disease
Nicholas C Chan¹, Anika Rueppell², Daniela Dominguez³, Tom Appleton⁴, Michelle Batthish⁵, Roberta A Berard⁶, Tania Cellucci⁵, Erkan Demirkaya⁷, Michelle Diebold⁶, Liane Heale⁸, Peter Kannu⁹, Deborah Levy¹⁰, Jonathan Park¹¹, Jean-Philippe Proulx-Gauthier¹², Angela Punnett¹⁰, Johannes Roth¹³, Rayfel Schneider¹⁴, Lynn Spiegel¹⁵, Rae Yeung¹⁶, Jason An¹, Anjali Jain³, Madeline Couse¹⁰, Dilan Dissanayake¹⁰, Ronald Laxer², Lauren Erdman¹⁰ and Linda Hiraki¹⁰, ¹University of Toronto, Toronto, ON, Canada, ²SickKids, Toronto, ON, Canada, ³The Hospital for Sick Children, Toronto, Canada, ⁴The University of Western Ontario, London, ON, Canada, ⁵McMaster Children's Hospital, Hamilton, ON, Canada, ⁶London Health Sciences Centre, London, ON, Canada, ⁷Victoria Hospital & Children's Hospital, Toronto, ON, Canada, ⁸McMaster University, Oakville, ON, Canada, ⁹University of Alberta, Edmonton, AB, Canada, ¹⁰The Hospital for Sick Children, Toronto, ON, Canada, ¹¹London Health Sciences Centre Victoria Hospital, Lodon, Canada, ¹²l'Université Laval, Quebec City, QC, Canada, ¹³Cantonal Hospital Luzern and Children's Hospital of Central Switzerland, Luzern, Switzerland, ¹⁴The Hospital for Sick Children, Toronto, Ontario, Canada, Toronto, ON, Canada, ¹⁵University of Toronto/Hospital for Sick Children, Toronto, ON, Canada, ¹⁶The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
Background/Purpose: Systemic inflammatory diseases (SIDs) are characterized by non-infectious multisystem inflammation. Genetic panels only diagnose 25% of suspected SID patients, due to the clinical and…
Abstract Number: 0267 • ACR Convergence 2024
IL-17 Participates in the Pathogenesis of Chronic Gouty Arthritis
Hong Di¹, Xinxin Han¹, Yun Zhang² and Xuejun Zeng¹, ¹Peking Union Medical College Hospital, Beijing, China, ²Peking Union Medical College Hospital (CAMS), Beijing, China
Background/Purpose: Chronic gouty arthritis (CGA) is different from acute gouty arthritis (AGA), its main characteristics include repeated or even persistent joint symptoms, tophus and bone destruction.…
Abstract Number: 0833 • ACR Convergence 2024
Novel Loss of Function Variants in the Death Domain of Tumor Necrosis Factor Superfamily Receptor 1A (TNFRSF1A) in Children with Systemic Juvenile Idiopathic Arthritis (sJIA)
Anthony Cruz¹, Hiroto Nakano², Sophia Chou³, Marissa Krantz⁴, Tianmin Fu⁵, Davide Randazzo⁶, Zuoming deng⁷, Hao Wu⁸ and Michael Ombrello⁹, and INCHARGE Consortium, ¹National Institutes of Health, Bethesda, MD, ²NIAMS, NIH, Bethesda, MD, ³National Institutes of Health, Rockville, MD, ⁴University of Rochester, Rochester, NY, ⁵Ohio State University College of Medicine, Columbus, OH, ⁶NIAMS/NIH, Bethesda, MD, ⁷National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁸Harvard Medical School, Boston, MA, ⁹National 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 an inflammatory condition characterized by recurring fevers, arthritis and hyperinflammation, but its exact etiology is unknown. Tumor necrosis…
Abstract Number: 1129 • ACR Convergence 2024
Machine Learning Algorithms to Predict Colchicine Resistance in Familial Mediterranean Fever
Admir Öztürk¹, Murad Kucur², Lara Yagci¹ and Serdal Ugurlu³, ¹Istanbul University - Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ²Istanbul University-Cerrahpasa, Engineering Faculty, Mechanical Engineering Department, Istanbul, Turkey, ³Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is a monogenic autoinflammatory disease caused by mutations in the MEFV gene. Colchicine is the first-line treatment of FMF. Although…
Abstract Number: 1960 • ACR Convergence 2024
To Biopsy or Not to Biopsy: Imaging Features of Chronic Nonbacterial Osteomyelitis of the Clavicle
Audrea Chen¹, Shema Hameed², Ayesha Hadi², Sevan Hopyan², Gino Somers², Ronald Laxer³ and Jennifer Stimec⁴, ¹The Hospital for Sick Children, Burnaby, BC, Canada, ²The Hospital for Sick Children, University of Toronto, Toronto, Canada, ³SickKids, Toronto, ON, Canada, ⁴Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) of the clavicle can pose a diagnostic challenge as the differential includes malignancy and infection. Biopsy is often required for…
Abstract Number: 2177 • ACR Convergence 2024
CD59 Complement Membrane Regulator Deficiency: 12 Years of Clinical and Molecular Follow-up of 29 Patients
Dror Mevorach, Netanel Karbian, Marian Zeibak and Adi Tabib, Hadassah-University Hospital, Jerusalem, Israel
Background/Purpose: We have described in 2013, homozygous CD59-deficient children that manifest with recurrent peripheral neuropathy resembling Guillain-Barré syndrome (GBS), with hemolytic anemia and recurrent strokes.…
Abstract Number: 0292 • ACR Convergence 2024
Liver Disease Complicating Familial Mediterranean Fever: A Study on 57 Patients from the French Adult JIR Cohort
Marion Delplanque¹, xavier amiot², Dominique Wendum³, françois Rodrigues², Rim bourguiba¹, Benoit Terris⁴, Christophe Duvoux², Pierre Bedossa⁵, Didier lebrec⁵, Philippe Sogni², Lucia parlati², Frederic Charlotte², Vlad Ratziu², stephane mouly⁶, jeremy augustin², julien Calderaro², giovana scoazec², JM Vignaud⁷, JA Seyrig⁸, Gilles Grateau¹, Lea Savey⁹ and Sophie Georgin-lavialle¹⁰, ¹Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, Paris, France, ²APHP, Paris, ³APHP, Paris, France, ⁴Department of pathology, Hôpital Cochin, GHU Paris Centre, AP-HP, Université Paris Cité,, Paris, France, ⁵APHP, clichy, ⁶Department of internal medicine, Centre de Compétence Maladies Rares autoimmunes et inflammatoires, Lariboisière Hospital, Université Paris Cité, Paris, Ile-de-France, France, ⁷CHRU nancy, Nancy, ⁸CH centre bretagne, pontivy, ⁹Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, france, France, ¹⁰Sorbonne Université, Department of internal medicine, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
Background/Purpose: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV gene mutations. FMF patients can experience liver involvement, potentially leading…
Abstract Number: 0879 • ACR Convergence 2024
A Novel, Oral, Allosteric Inhibitor of Tyrosine Kinase 2 (TYK2) Demonstrates In Vitro Potency, Selectivity, and In Vivo Efficacy in Mouse Models of Psoriasis
Razika Hussein¹, Pamela Tsuruda¹, Shahab Mortezaei¹, Nicky Ferdyan¹, Christopher Wegerski², Karthik Srinivasan¹, Gavin Hirst¹ and Neelufar Mozaffarian¹, ¹Atomwise Inc., San Francisco, ²Atomwise Inc., San Francisco, CA
Background/Purpose: Tyrosine kinase 2 (TYK2), a member of the Janus kinase (JAK) family, plays a key role in several inflammatory diseases. Orthosteric, small molecule inhibitors…
Abstract Number: 1132 • ACR Convergence 2024
Guselkumab and Golimumab Combination Induction Therapy in Ulcerative Colitis Results in Early Local Tissue Healing That Is Sustained Through Guselkumab Maintenance Therapy
Dylan Richards¹, Marion Vetter¹, Matthew Germinaro¹, Bram Verstockt², Raja Atreya³, Julián Panés⁴, Bruce E. Sands⁵, Brian G. Feagan⁶, Bradford McRae⁷, Daniel Cua¹, Patrick Branigan¹ and Tom C. Freeman¹, ¹Janssen Research & Development, LLC, Spring House, PA, USA, Spring House, PA, ²Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium, Leuven, Belgium, ³Department of Medicine I, Gastroenterology, Endocrinology and Pneumology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany, Erlangen, Germany, ⁴Hospital Clínic de Barcelona, IDIBAPS, CIBERehd, Barcelona, Spain, Barcelona, Spain, ⁵Icahn School of Medicine at Mount Sinai, New York, NY, USA, New York, NY, ⁶Alimentiv Inc, London, ON, Canada, London, ON, Canada, ⁷Janssen Research & Development, Cambridge, MA, USA, Cambridge, MA
Background/Purpose: Combination induction therapy with guselkumab (GUS), an interleukin (IL)-23p19 subunit antagonist, and golimumab (GOL), a tumor necrosis factor (TNFα) antagonist, induced higher rates of…
Abstract Number: 1979 • ACR Convergence 2024
Safety and Effectiveness of Immune Checkpoint Inhibitor Therapy in Patients with Pre-existing Autoimmune Disease
Siddhartha Goutam¹, Arjun athreya Raghavan², Carrie Ye³, Liam O'Neil⁴ and Jeffrey Graham¹, ¹Max Rady School of Medicine, University of Manitoba, Winnipeg, MB, Canada, ²University of Manitoba Max Rady College of Medicine, Winnipeg, MB, Canada, ³Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada, ⁴University of Manitoba, Winnipeg, MB, Canada
Background/Purpose: Immune checkpoint inhibitors (ICI) have altered the treatment landscape within oncology, with an expanding number of indications. Patients with pre-existing autoimmune disease (PAD) have…
Abstract Number: 2187 • ACR Convergence 2024
Outcomes Following Tonsillectomy in Children with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome
Kalpana Manthiram¹, Ana Ortega-Villa², Sivia Lapidus³, Mary Bowes², Tina Romeo⁴, Kathryn Garguilo⁵, Laura Failla², Hemalatha Srinivasalu⁶, Pamela Mudd⁷, Roberta DeBiasi⁸, Amanda Ombrello⁹, Karyl Barron¹⁰, Daniel Kastner¹¹ and Kathryn Edwards⁵, ¹National Institute of Allergy and Infectious Disease, Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, Bethesda, MD, ³Hackensack University Medical Center, Montclair, NJ, ⁴NIH, Bethesda, MD, ⁵Vanderbilt University School of Medicine, Nashville, TN, ⁶Children's National Hospital, Washington, DC, ⁷Children's National Hospital, Washington, ⁸Children's National Hospital and Research Institute, Washington, DC, ⁹National Institutes of Health, Rockville, MD, ¹⁰NIAID, NIH, Bethesda, MD, ¹¹National Human Genome Research Institute, Bethesda, MD
Background/Purpose: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in children. Tonsillectomy leads to cessation of…
Abstract Number: L01 • ACR Convergence 2023
Analysis of 245,388 Diverse Participants in the NIH All of Us Cohort Identifies VEXAS Resiliency in UBA1 M41L Somatic Mutation Carriers
Robert Corty¹ and Alexander Bick², ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University, Nashville, TN
Background/Purpose: VEXAS syndrome is a recently-discovered systemic auto-inflammatory disease caused by somatic mutation at position 41 in the X-linked gene UBA1.1 First, 25 older men…

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