Abstracts tagged "Autoinflammatory diseases"

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: 0293 • ACR Convergence 2024
Assessment of Skin Cancer Risk in Autoimmune Diseases: A Multivariate Analysis Using a National Inpatient Database
Sami Rabah and Xiangyi Kang, Lincoln Medical Center, New York, NY
Background/Purpose: Autoimmune diseases are known to be associated with an increased risk of many types of cancers. This study investigates the association between different types…
Abstract Number: 0890 • ACR Convergence 2024
Pervasive Inflammation Poisons Hematopoiesis and Drives Clonal Dominance in VEXAS Syndrome
Corrado Campochiaro¹, Molteni raffaella², Martina Fiumara³, Alessandro Tomelleri⁴, Elisa Diral⁵, Davide Stefanoni⁶, Angelica Varesi⁶, Alessandra Weber⁷, Roberta Alfieri⁸, Luisa Albano⁷, Maddalena Panigada⁶, Eleonora Cantoni⁶, Daniele Canarutto⁹, Luca Basso-Ricci¹⁰, Pamela Quaranta⁷, Angelo D’Alessandro¹¹, Gregorio Bergonzi¹², Marco Matucci-Cerinic¹³, Raffaella Di Micco³, Alessandro Aiuti³, Fabio Ciceri¹², Ivan Merelli³, Lorenzo Dagna¹⁴, Serena Scala³, Simone Cenci⁶, Luigi Naldini³, Samuele Ferrari³ and Giulio Cavalli¹⁵, ¹IRCCS San Raffaele Hospital. Vita-Salute San Raffaele University, Milan, Milan, Italy, ²Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Italy, ³San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Italy, ⁴Unit of Immunology, Allergology and Rare Diseases, IRCCS Ospedale San Raffaele, Milano, Italy, ⁵Unit of Haematology and Bone Marrow Transplantation, IRCCS San Raffaele Hospital, Milan, Italy, Milan, Lombardia, Italy, ⁶Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Lombardia, Italy, ⁷San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy, ⁸Institute for Biomedical Technologies, National Research Council, Segrate, Italy, ⁹Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy, ¹⁰San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milano, Italy, ¹¹Department of Biochemistry and Molecular Genetics, University of Colorado Denver - Anschutz Medical Campus, Autora, CO, ¹²Unit of Haematology and Bone Marrow Transplantation, IRCCS San Raffaele Hospital, Milan, Italy, Milan, Italy, ¹³University San Raffaele Milano, Milano, Milan, Italy, ¹⁴Ospedale San Raffaele, Milano, Italy, ¹⁵Vita-Salute San Raffaele University, Milan, Italy
Background/Purpose: VEXAS syndrome is an adult-onset, X-linked, life-threatening, autoinflammatory and hematological disease caused by somatic mutation in UBA1 gene. Our study aims at uncovering pathophysiology…
Abstract Number: 1214 • ACR Convergence 2024
All-Cause Mortality in Patients with Chronic Musculoskeletal Pain Using Pregabalin or Duloxetine: A Retrospective Cohort Study in US Veterans
Sachalee Campbell¹, Laura L. Daniel², Alyson L. Dickson³, Otis Wilson³, C. Michael Stein³, Puran Nepal⁴, Adriana M. Hung⁵ and Cecilia P. Chung², ¹University of Miami/ Jackson Health System, Miami, FL, ²University of Miami, Miami, FL, ³Vanderbilt University Medical Center, Nashville, TN, ⁴Vanderbilt University Medical Center, Vanderbilt, TN, ⁵Veterans Administration Tennessee Valley Healthcare System, Nashville, TN
Background/Purpose: Musculoskeletal pain affects more than 10% of the general population. Recent trends in managing chronic musculoskeletal pain have favored non-opioid analgesics, for example, pregabalin,…
Abstract Number: 1997 • ACR Convergence 2024
Features of interleukin-1 and interleukin-6 Inhibitor (IL-1i/IL-6i) Related Severe Delayed Adverse Reactions in Subjects with or Without Reaction-risk Associated HLA-DRB1*15
Vivian E Saper¹, Kazutoyo Osoegawa¹, Ruud Verstegen², Marcelo A Fernandez Vina¹ and Lu Tian¹, and Drug Hypersensitivity Consortium, ¹Stanford University, Stanford, CA, ²The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: A very serious drug-related adverse event is reported with inhibitors of IL-1 and IL-6 (IL-1i/IL6i). This reaction scores as drug reaction with eosinophilia and…
Abstract Number: 2199 • ACR Convergence 2024
Mycobacterial Infection and Renal and Bladder Malignancy in 2 IFNopathy Patients on High Doses of JAK Inhibitors
Sara Alehashemi¹, Kader Cetin Gedik², Cassandra Calabrese³, Sherry Nguyen⁴, Alexi Baumgardner⁴, Katsiaryna Uss⁴, Kip Friend⁴, Ariane Soldatos⁵, Adriana Almeida de Jesus⁶ and Raphaela Goldbach-Mansky⁷, ¹NIH/NIAID/TADS, Potomac, MD, ²Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Pittsburgh, PA, ³Cleveland Clinic Foundation, Cleveland Heights, OH, ⁴Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Bethesda, MD, ⁵NINDS/NIH, Bethesda, MD, ⁶NIAID, NIH, Silver Spring, MD, ⁷Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Potomac, MD
Background/Purpose: Autoinflammatory Type I Interferonopathies (IFNopathies) include STINGopathies (e.g., SAVI and COPA syndrome), proteasomopathies (e.g., CANDLE/Proteasome associated autoinflammatory syndrome (PRAAS), and oligonucleotidopathies (e.g., AGS: Aicardi-Goutières…
Abstract Number: 0294 • ACR Convergence 2024
Obesity and Risk of Autoimmune Diseases: Insights from the National Inpatient Sample
Sami Rabah and Xiangyi Kang, Lincoln Medical Center, New York, NY
Background/Purpose: Obesity has been implicated as a risk factor in developing various cardiovascular, respiratory, and other health complications. However, the link between obesity and autoimmune…

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