Abstracts tagged "interferon"

Abstract Number: 2670 • ACR Convergence 2025
Real-World Experience of Anifrolumab in 24 Patients with Refractory Dermatomyositis: A Multicenter Retrospective Study.
Miriam Retuerto Guerrero¹, Clara Moriano², Ana Pareja-Martínez³, Natalia Molina-Esteban⁴, Jose Puig-Buendia⁵, Concepción Postigo-Llorente⁵, Ana Lopez-Ceron Cofiño⁶, Julia Martínez Barrio⁷, Paola Vidal-Montal⁸, Elena Sendagorta Cudos⁹, GUILLERMO GONZALEZ ARRIBAS¹⁰, Jaime Calvo¹¹, Juan Ramon De Dios¹², Juan María Blanco-Madrigal¹³, Paloma Vela Casasempere¹⁴, Javier Bachiller¹⁵, Concepción Fito-Manteca¹⁶, Carmen Ordas calvo¹⁷, Luisa Martos Cabrera¹⁸, Alejandro Sanchez Herrero¹⁹, Luis Ortega-Valin²⁰ and Elvira Diez Alvarez²¹, ¹Complejo Asistencial Universitario de León, Leon, Castilla y Leon, Spain, ²Hospital León, LEON, Castilla y Leon, Spain, ³Rheumatology. Hospital Universitario Infanta Leonor, Madrid, Madrid, Spain, ⁴Rheumatology. Hospital Universitario ¹² de octubre, Madrid, Madrid, Spain, ⁵Dermatology. Hospital universitario ¹² de octubre, Madrid, Madrid, Spain, ⁶Rheumatology. Complejo Asistencial Universitario de Soria, Soria, Castilla y Leon, Spain, ⁷Department of Rheumatology, Hospital Gregorio Marañón, Madrid, Spain, Madrid, Madrid, Spain, ⁸Rheumatology. Hospital Universitari de Bellvitge, Barcelona, Catalonia, Spain, ⁹Dermatology. Hospital universitario La Paz, Madrid, Madrid, Spain, ¹⁰Facultativo especialista, PALMA DE MALLORCA, Galicia, Spain, ¹¹Department of Rheumatology, Hospital Universitario Araba, School of Medicne, Universidad del País Vasco, BIOARABA Health Research Institute, Vitoria, Spain, Vitoria, Pais Vasco, Spain, ¹²Department of Rheumatology. Hospital Universitario Araba. Instituto de Investigación Sanitaria BIORABA., Vitoria, Pais Vasco, Spain, ¹³Rheumatology. Hospital Universitario Araba., Vitoria, Pais Vasco, Spain, ¹⁴Hospital General Universitario Alicante, Alicante, Comunidad Valenciana, Spain, ¹⁵Hospital Ramon y Cajal, Madrid, Madrid, Spain, ¹⁶Rheumatology. Hospital Universitario de Navarra., Pamplona, Navarra, Spain, ¹⁷Rheumatology. Hospital Universitario de Cabueñes., Gijon, Asturias, Spain, ¹⁸Dermatology. Hospital Universitario de La Princesa, Madrid, Madrid, Spain, ¹⁹Dermatology. Complejo Asistencial Universitario de Leon, Leon, Castilla y Leon, Spain, ²⁰Pharmacy. Complejo Asistencial Universitario de Leon, Leon, Castilla y Leon, Spain, ²¹Rheumatology. Complejo Asistencial Universitario de Leon, Leon, Castilla y Leon, Spain
Background/Purpose: Dermatomyositis (DM) is a systemic autoimmune disease marked by muscle weakness and characteristic cutaneous manifestations. Dysregulation of the Type I interferon (IFN-I) pathway plays…
Abstract Number: 1771 • ACR Convergence 2025
Interferon- α, Anti-Interferon-Alpha Antibodies and Disease Activity in Systemic Lupus Erythematosus
Gollakota Nandita¹, Kambhampati Sreelekha², Kaushik Puranam³, Phani Kumar D⁴, Meghna Gavali⁵ and Liza rajasekhar⁶, ¹NIMS, Hyderabad, Hyderabad, Telangana, India, ²Nizams institute of medical sciences, hyderabad, Andhra Pradesh, India, ³Nizams Institute Of Medical Sciences , Hyderabad, hyderabad, Telangana, India, ⁴NIMS, Hyderabad, Telangana, India, ⁵nizam's institute of medical sciences ,Hyderabad, Hyderabad, Telangana, India, ⁶Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease, partly driven by Interferon-alpha (IFN-α). Studies suggest that anti-IFN-α antibodies (AIAA) may neutralize IFN-α, potentially…
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: 0301 • ACR Convergence 2025
Novel HMGCS1 Deficiency Expands Proinflammatory Monocytes and Cytotoxic Populations with Increased Cytokine Release
Sabrina Helmold Hait¹, Mary Maclean², Cindy Phung³, Gustaf wigerblad⁴, Iago Pinal Fernandez⁴, Carl Esperanzate⁵, hongying Wang⁵, Andrew Mammen⁶, willian Gahl⁵, Daniel L. Kastner⁷, Stefania Dell'orso⁴, Danica Novacic⁵, massimo Gadina⁴ and Ivona Aksentijevich⁸, ¹NIAMS/NIH, Bethesda, MD, ²NIH-NIAMS, Rockville, MD, ³National Institute of Arthritis, Musculoskeletal, and Skin Diseases (NIAMS), Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁵National Human Genome research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, ⁶NIH, Bethesda, MD, ⁷National Human Genome research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, ⁸¹⁰⁰, Bethesda, MD
Background/Purpose: The mevalonate (MVK) pathway synthesizes isoprenoids that mediate post-translational protein modifications via prenylation. Deficient protein prenylation due to decreased mevalonate kinase (MK) activity leads…
Abstract Number: 2668 • ACR Convergence 2025
CD14⁺ Myeloid Cells Mediate UVB Photosensitivity in Autoimmune Skin Disease via a Spatially Resolved Inflammatory Circuit
Nazgol Haddadi¹, Khashayar Afshari¹, Yuqing Wang¹, Carolina S. Lopes¹, Chee-Huat L. Eng², Nuria Martinez-Gutierrez¹, Leah Whiteman¹, Kevin Wei³, Kirsten Frieda², Stefania Gallucci¹, Misha Rosenbach⁴, Ruth Ann Vleugels⁵, John E. Harris¹, Manuel Garber¹ and Mehdi Rashighi¹, ¹UMass Chan Medical School, Worcester, MA, ²Spatial Genomics, Inc., Pasadena, CA, ³Brigham and Women's Hospital at Harvard Medical School, Boston, MA, ⁴University of Pennsylvania, Philadelphia, PA, ⁵Brigham and Women's Hospital, Chestnut Hill, MA
Background/Purpose: Inflammatory skin diseases vary widely in symptoms and causes. While ultraviolet (UV) light helps treat some like vitiligo and psoriasis, in conditions like cutaneous…
Abstract Number: 1755 • ACR Convergence 2025
Multi-Omic Profiling Of CD8+ T Cells In Axial Spondyloarthritis (axSpA) And Reactive Arthritis (ReA) Implicates Common Pathways
Zoya Qaiyum¹, Michael Tang², Shirin Soleimani³, Addison Pacheco², Melissa Lim⁴, Fataneh Tavasolian⁴, Trevor Pugh³ and Robert Inman², ¹Schroeder Arthritis Institute, University Health Network, Toronto, ON, Canada, ²University Health Network, Toronto, ON, Canada, ³Princess Margaret Cancer Centre, University Health Network, Toronto, Canada, ⁴University of Toronto, Toronto, ON, Canada
Background/Purpose: The strong clinical and genetic associations between axial spondyloarthritis (axSpA) and inflammatory bowel disease (IBD) underscore the pathogenic role of the gut-joint axis. We…
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: 0286 • ACR Convergence 2025
Anifrolumab For Treatment Of Refractory Juvenile Dermatomyositis In Adult Patients
Connor Buechler¹ and David Pearson², ¹University of Minnesota, Mendota Heights, MN, ²Department of Dermatology, University of Minnesota, Minneapolis, MN
Background/Purpose: Juvenile dermatomyositis (JDM) is an autoimmune connective tissue disorder with a chronic, relapsing course that can persist into adulthood. Current therapies exhibit widely variable…
Abstract Number: L01 • ACR Convergence 2024
Targeted Exosite Inhibition of STING Activation of TBK1 Selectively Blocks Type I Interferon and NFκB Responses for Treatment of Autoimmune Diseases
Matthew Martin¹, Erik Wilker¹, Diana Gikunju¹, Usha Narayanan¹, Unnati Pandya¹, Vijetha Prakash¹, Ashley Edwards¹, Sameer Kawatkar¹, Tenghui Chen¹, Ragunath Chandran¹, Sai Sunder¹, Sumathi Biradar¹, Joerg Distler², Alexandra Joseph¹, Stephanos Ioannidis¹ and Bhavatarini Vangamudi¹, ¹Exo Therapeutics, Cambridge, MA, ²Exo Therapeutics, Düsseldorf, Germany
Background/Purpose: The cGAS-TBK1-STING pathway senses nucleic acids for innate immunity. Aberrant activation of the pathway is linked to autoimmune diseases including Systemic and Cutaneous Lupus…
Abstract Number: 0887 • ACR Convergence 2024
Identification of Rare Variants in Lupus-causing Genes in a Mixed Paediatric and Adult Connective Tissue Disease Cohort
Anastasia-Vasiliki Madenidou¹, Gillian Rice², Terence Garner³, Sarah Dyball⁴, Alice Chieng⁵, Ben Parker⁶, Tracy Briggs⁷, Adam Stevens³ and Ian Bruce⁸, ¹Centre for Musculoskeletal Research, The University of Manchester, Manchester, United Kingdom, ²Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom, Manchester, ³Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester and Manchester Academic Health Science Centre, Manchester, United Kingdom, Manchester, United Kingdom, ⁴Centre for Musculoskeletal Research, The University of Manchester, Manchester, UK, Manchester, United Kingdom, ⁵Department of Rheumatology, Royal Manchester Children's Hospital, Manchester, United Kingdom, Manchester, United Kingdom, ⁶Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom, ⁷Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom, Manchester, United Kingdom, ⁸Centre for Musculoskeletal Research, Division of Musculoskeletal and Dermatological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom
Background/Purpose: Connective tissue diseases (CTDs) are a family of heterogeneous autoimmune diseases with overlapping clinical features. Not all patients with features suggestive of a mendelian…
Abstract Number: 1706 • ACR Convergence 2024
Multi-omic Study in Patients with SITRAME Syndrome
Yixiang Yves-Jean Zhu¹, Angèle Soria², Thomas Moreau³, Guilaine Boursier⁴, Vincent Bondet⁵, Françoise Donnadieu⁶, Clara Cretet⁷, Aness Haddouche⁷, Carine Schmidt³, Diego Bletry³, Emmanuelle Amsler², Annick Barbaud², Farah Rahal⁵, Yannick Chantran⁸, Margaux Cescato³, François Maillet⁹, Anne-Sophie Korganow¹⁰, Benjamin Chaigne¹¹, Yannick Dieudonné¹⁰, Guillaume Lefevre¹², Makoto Miyara⁷, Vivien Beziat¹³, Caroline Deswarte¹³, Michael White⁶, Sophie Georgin-lavialle¹, Darragh duffy⁵ and Mathieu Paul Rodero³, ¹Sorbonne Université, Department of internal medicine, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France, ²Sorbonne Université, Department of dermatology and allergology, Tenon hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France, ³Université Paris CIté, Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques, Faculté des Saint-Pères, Paris, France, ⁴University of Montpellier, Montpellier, ⁵Translational Immunology Unit, Institut Pasteur, Université Paris-Cité, Paris, France, Paris, France, ⁶Pasteur Institut, Laboratoire d'épidémiologie et analyse des maladies infectieuses, Paris, France, ⁷Sobonne University, Centre d'Immunologie et des Maladies Infectieuses, Paris, France, ⁸Departmen of Biological Immunology, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France, ⁹AP HP, Paris, France, ¹⁰University of Strasbourg, Department of Clinical Immunology and Internal Medicine, Nouvel Hôpital Civil, Strasbourg, France, ¹¹Service de Médecine Interne, Centre de Référence Maladies Systémiques Autoimmunes et Autoinflammatoires Rares d'Ile de France de l’Est et de l’Ouest, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, Ile-de-France, France, ¹²CHU Lille, Institut d’Immunologie, Lille, France., Lille, France, ¹³IMAGINE Institut, Human Genetics of Infectious Diseases Laboratory, Paris, France
Background/Purpose: The SITRAME syndrome (Systemic Inflammatory Trunk Recurrent Acute Macular Eruption) is a newly described inflammatory entity affecting adult patients with no family history (Soria…
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: 0901 • ACR Convergence 2024
Intergenic Alu Elements Are Uniquely Expressed in Dermatomyositis and Correlate with Interferon Stimulated Genes
Rayan Najjar¹, Andrew Mammen² and Tomas Mustelin¹, ¹University of Washington, Seattle, WA, ²NIH, Bethesda, MD
Background/Purpose: As genes constitute < 2% of our genomes, there is a need to explore potential roles of other genomic elements in autoimmune disease. We…
Abstract Number: 1732 • ACR Convergence 2024
In Vitro Screening of siRNAs Designed to Knockdown Interferon Beta as a Novel Therapeutic Approach for Treatment of Adult and Juvenile Dermatomyositis
Joanna Parkes, Andrés Correa-Sánchez, Mark Cunningham and Peter Oliver, MRC Nucleic Acid Therapy Accelerator, Didcot, United Kingdom
Background/Purpose: The main treatments for adult and juvenile dermatomyositis (DM/JDM) are immunosuppressant drugs and corticosteroids, which have significant side effects and are not effective in…
Abstract Number: 2288 • ACR Convergence 2024
Interferon Gamma Signaling Is Associated with Development of Extraglandular Manifestations in Sjögren’s Disease
Hiroyuki Nakamura¹, Koki Nakamura¹, Hidenori Amaike¹, Ken Nagahata¹, Masatoshi Kanda² and Hiroki Takahashi¹, ¹Sapporo Medical University, Sapporo, Japan, ²Department of Rheumatology and Clinical Immunology, Sapporo Medical University, Sapporo, Japan, Sapporo, Japan
Background/Purpose: Sjögren’s disease (SjD) is an autoimmune disease that primarily affects salivary and lacrimal glands. Some patients with SjD develop various extraglandular manifestations (EGM), such…

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