Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0250 • ACR Convergence 2025
Autoinflammatory diseases in adult patients. Spanish registry.
Eztizen Labrador-Sanchez¹, Diana Prieto-Peña², Carlota L Iñiguez³, Rafael B. Melero-González⁴, Alberto Ruiz-Roman⁵, Clara Moriano⁶, Paula García-Escudero⁷, Anahy Maria Brandy⁸, Marta López⁹, Fred Anton Pages¹⁰, Maria Camila Osorio-SanJuan¹¹, Nahia Plaza-Aulestia¹², Bryan Josué Flores Robles¹³, Estibaliz Andres Trashaedo¹⁴ and Ricardo Blanco¹⁵, ¹Hospital Universitario San Pedro, Laguardia, Spain, ²Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander, Spain., Santander, Spain, ³Hospital del Bierzo, Ponferrada, Castilla y Leon, Spain, ⁴COMPLEXO HOSPITALARIO UNIVERSITARIO DE OURENSE, O Carballino, Spain, ⁵Hospital Juan Ramon Jimenez, Huelva, Spain, ⁶Hospital León, LEON, Castilla y Leon, Spain, ⁷Hospital Universitario Álava, Bilbao, Spain, ⁸Hospital Germans Trias i Pujol, Badalona, Spain, ⁹Complex Hospitalari Universitari Moisés Broggi, Barcelona, Spain, ¹⁰Hospital General de Segovia, Segovia, Spain, ¹¹Hospital Clínico Lozano Blesa, Zaragoza, Spain, ¹²Rheumatology division. Galdakao-Usansolo University Hospital, Galdakao, Spain, ¹³Hospital San Pedro, Logroño, Spain, ¹⁴Hospital San Pedro, Logroño, Spain, ¹⁵Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander, Spain, Santander, Cantabria, Spain
Background/Purpose: Autoinflammatory diseases(AIDs) are characterized by recurrent inflammatory episodes resulting from alterations in regulatory genes, activating the innate immune system. Although these diseases primarily occur…
Abstract Number: 2242 • ACR Convergence 2025
Analysis of Bronchoalveolar Fluid Cytokine Profile as a Way to Understand the Lung Disease Associated with Systemic Juvenile Idiopathic Arthritis
Ivanna Romankevych¹, Donna Do¹, Alyssa Sproles², Lexi Auld¹, Taskin Sabit¹, Richard Chhaing¹, Joy Baker¹, John Brewington³, Christopher Towe⁴, Alexiei GROM⁵ and Grant Schulert⁶, ¹Cincinnati Children's Hospital Medical Center, Division of Rheumatology, Cincinnati, OH, ²Cincinnati Children's Hospital, Cincinnati, OH, ³Cincinnati Children's Hospital Medical Center, Division of Pulmonary Medicine; University of Cincinnati, Cincinnati, OH, ⁴Cincinnati Children’s Hospital Medical Center, Division of Pulmonary medicine; University of Cincinnati, Cincinnati, OH, ⁵Cincinnati Children’s Hospital Medical Center, Division of Rheumatology, Cincinnati, OH, ⁶Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: The lung disease associated with systemic JIA (SJIA-LD) remains poorly understood. Measurement of cytokine levels in bronchoalveolar lavage fluid (BALF) may offer insights into…
Abstract Number: 2026 • ACR Convergence 2025
Clinical Features and Treatment Outcomes in Aseptic Abscess Syndrome: A Systematic Review of 104 Cases
Eleni Papachristodoulou¹, Loukas Kakoullis¹, Ratnesh Chopra², Chris Derk³ and Konstantinos Parperis⁴, ¹Mount Auburn Hospital, Harvard Medical School, Cambridge, MA, ²UMass Chan Medical School, Worcester, MA, ³University of Pennsylvania, Philadelphia, PA, ⁴University of Cyprus Medical School, Nicosia, Cyprus
Background/Purpose: Aseptic abscess syndrome (AAS) is an inflammatory condition of unknown etiology, characterized by the formation of sterile neutrophilic abscesses that frequently respond to immunosuppressive…
Abstract Number: 1395 • ACR Convergence 2025
A Comparative Study of Yao Syndrome and Primary Sjögren’s Syndrome
Nayaab Bakshi¹, Christopher Loh², Song Wu³ and Qingping Yao³, ¹Stony Brook University, Dix Hills, NY, ²Stony Brook University, Lake Grove, NY, ³Stony Brook University, Stony Brook, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly named Nucleotide-binding oligomerization domain containing protein 2 (NOD2)-associated autoinflammatory disease affecting multiorgan systems characterized by recurrent fever,…
Abstract Number: 1149 • ACR Convergence 2025
Patient Symptom State Demonstrates Validity for the Assessment of Disease Activity and Patient-reported Outcomes in Adults with SAPHO and Chronic Nonbacterial Osteomyelitis – A Longitudinal Response Profile Analysis in The SAPHO-CNO Study
Aleksander Lenert¹, Robyn Domsic², Jenna Thomason³, Melanie smith⁴, Petar Lenert⁵, Yongdong (Dan) Zhao⁶, Jonathan Templin¹, Mary Vaughan-Sarrazin¹, Daniel Solomon⁷ and Polly Ferguson⁸, ¹University of Iowa, Iowa City, IA, ²University of Pittsburgh, Pittsburgh, PA, ³University of Washington, Seattle, WA, ⁴Hospital for Special Surgery, Weill Cornell Medicine, New York, NY, ⁵University of Iowa Hospitals and Clinics, Iowa City, IA, ⁶Seattle Children’s Research Institute, Redmond, WA, ⁷Division of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Boston, MA, ⁸University of Iowa Carver College of Medicine, Iowa City, IA
Background/Purpose: Patient symptoms are important in the assessment of disease activity. The Patient Acceptable Symptom State (PASS) is defined as the minimum symptom score beyond…
Abstract Number: 0243 • ACR Convergence 2025
Epidemiology of adult-onset Systemic Autoinflammatory Diseases in a well-defined population from northern spain
Carmen Lasa Teja¹, Laura Muñoz-Llopis², Diana Prieto-Peña³, Isla Morante Bolado⁴, José Luis Martín-Varillas⁵, Nerea Paz-Gandiaga⁶ and Ricardo Blanco⁷, ¹Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander, Spain., Riotuerto, Cantabria, Spain, ²Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander , Spain, Santander, Spain, ³Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander, Spain., Santander, Spain, ⁴Rheumatology, Hospital General Sierrallana, Torrelavega, Spain., Santander, ⁵Rheumatology Division, Hospital de Laredo. IDIVAL, Immunopathology Group. Santander, Spain., Laredo, Spain, ⁶Rheumatology, Hospital Comarcal de Laredo, Laredo, Spain., Santander, ⁷Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander, Spain, Santander, Cantabria, Spain
Background/Purpose: Systemic autoinflammatory diseases (SAIDs) are rare disorders characterized by recurrent episodes of fever, serositis, gastrointestinal symptoms, arthritis, and/or skin lesions. In adult-onset SAIDs, clinical…
Abstract Number: 0305 • ACR Convergence 2024
Inflammatory T Cell Expansion in Yao Syndrome
Danielle Xie¹, Rimanpreet Kaur², Richard Kew², Qingping Yao³ and Charles Vorkas², ¹Stony Brook University, East Setauket, ²Stony Brook University, Stony Brook, ³Stony Brook University, Stony Brook, NY
Background/Purpose: Yao syndrome (YAOS, #OMIM 617321), formerly known as nucleotide-binding oligomerization protein containing 2 (NOD2)-associated autoinflammatory disease, is associated with specific NOD2 mutations and affects…
Abstract Number: 0922 • ACR Convergence 2024
Generation and Pathophysiological Analysis of M694I Variant Knock-in Mice of Human MEFV Gene: Insights from Single-Cell RNA Sequencing
Tomohiro Koga, Yoshika Tsuji and Atsushi Kawakami, Nagasaki University, Nagasaki, Japan
Background/Purpose: The primary objective of this study was to generate knock-in mice with the M694I variant of the human MEFV gene, a critical variant in…
Abstract Number: 1705 • ACR Convergence 2024
Deep Phenotyping Characterization of Peripheral Natural Killer Cells Reveals Impaired Cytotoxicity and Exhaustion During VEXAS Syndrome
Paul Breillat¹, Carbone Francesco², Possémé Céline³, Marie Templé⁴, Aurélien Corneau⁵, Marine Luka², Camille Gobeaux⁶, Rodéreau Outh⁷, Estibaliz Lazaro⁸, Guillaume Le Guenno⁹, François Lifermann¹⁰, Marie Berleur¹¹, Melchior Le Mene⁴, Chloé Friedrich⁴, Cédric Lenormand¹², Thierry Weitten¹³, Vivien Guillotin¹⁴, Barbara Burroni⁶, Jeremy Boussier¹⁵, Lise Willems⁶, Léa Dionet¹⁶, Tharaux Pierre-Louis¹⁶, Darragh duffy¹⁷, Mickael Ménager¹⁸, Olivier Kosmider⁴ and Benjamin Terrier¹⁹, ¹Service 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), INSERM U970, Université de Paris, PARIS, France, ²Institut Imagine, Paris, France,, Paris, France, ³Institut Pasteur, Paris, France, Paris, France, ⁴Hematology Laboratory, Assistance Publique-Hôpitaux de Paris, Centre-Université de Paris Cité, Cochin Hospital, Paris, France, Paris, France, ⁵Sorbonne Université, Paris, France, ⁶Cochin Hospital, Paris, France, Paris, France, ⁷CH, Perpignan, France,, Perpignan, France, ⁸Bordeaux University Hospital, Pessac, France, ⁹CHU, Clermont-Ferrand, France,, Clermont-Ferrand, France, ¹⁰Dax Hospital, Dax, France, Dax, France, ¹¹CHU Bichat, Paris France, Paris, France, ¹²CHRU, Strasbourg, France, Strasbourg, France, ¹³CHIGAS, Gap, France, Gap, France, ¹⁴CHU Bordeaux, Bordeaux, France, Bordeaux, France, ¹⁵Sorbonne University, Paris, France, ¹⁶Paris Cardiovascular Research Center, INSERM U970, Paris, France, ¹⁷Translational Immunology Unit, Institut Pasteur, Université Paris-Cité, Paris, France, Paris, France, ¹⁸Institut Imagine, Paris, France, Paris, France, ¹⁹Service de Médecine interne, Hôpital Cochin, AP-HP, Paris, Ile-de-France, France
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a severe auto-inflammatory disorder associated with acquired mutations in the UBA1 gene that occur in hematopoietic stem cells…
Abstract Number: 2030 • ACR Convergence 2024
The Development of the EULAR Score for the Definition of Disease Activity in Adult-onset Still’s Disease; The “DAVID” Project
Piero Ruscitti¹, Tanja Stamm², valentin Ritschl², Stéphane Mitrovic³, Charlotte Girard-Guyonvarc'h⁴, Helene Alexanderson⁵, Birgit Barten⁶, Carina Bostrøm⁷, Dorothea Fell⁸, Marco Gattorno⁹, Francis Guillemin¹⁰, Melanie Körner⁶, Martin Krusche¹¹, Javier Llorca¹², Pierre Quartier¹³, Angelo Ravelli⁹, Nicolas Rosine¹⁴, Maud Wieczorek¹⁵, Tanita Wilhelmer⁶, Miguel Angel Gonzalez-Gay¹⁶, Cem Gabay⁴, Bruno Fautrel¹⁷, Eugen Feist¹⁸ and Roberto Giacomelli¹⁹, and on behalf of GIRRCS–AOSD Study group, ¹Division of Rheumatology, Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy, L'Aquila, Italy, ²Institute of Outcomes Research, Center for Medical Data Science, Medical University of Vienna, Vienna, Austria, Vienna, Austria, ³Sorbonne Université – AP-HP, Hôpital Pitié Salpêtrière, Service de Rhumatologie, Paris, France – INSERM, Institut Pierre Louis d'Epidémiologie et de Santé Publique, UMR S1136, Paris France – CRI-IMIDATE Network, Paris, France, ⁴Division of Rheumatology, Department of Medicine, University Hospital of Geneva and Faculty of Medicine University of Geneva, Geneva, Switzerland, Geneva, Switzerland, ⁵Division of Rheumatology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden, Stockholm, Sweden, ⁶EULAR Research Partner, EULAR PARE, Zurich, Switzerland, Zurich, Switzerland, ⁷Department of Occupational Therapy and Physiotherapy, Karolinska University Hospital, Stockholm, Sweden, Stockholm, Sweden, ⁸Deutsche Rheuma-Liga Bundesverband e. V., Bonn, Germany, Bonn, Germany, ⁹IRCCS Giannina Gaslini, Genoa, Italy, ¹⁰Inserm, CHRU Nancy, Université de Lorraine, CIC-Clinical Epidemiology, Nancy, F-54000, France, Nancy, France, ¹¹III Department of Medicine, Division of Rheumatology and Systemic Inflammatory Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany, Hamburg, Germany, ¹²Epidemiology, CIBER Epidemiología y Salud Pública (CIBERESP) and Department of Medical and Surgical Sciences, University of Cantabria, Santander, Spain, Santander, Spain, ¹³Université de Paris, Institut des Maladies Génétiques (IMAGINE Institute), Reference Centre for Rheumatic, AutoImmune, and Systemic Diseases in Children (RAISE), Department of Pediatric Immunology, Hematology and Rheumatology, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75015, France, Paris, France, ¹⁴Institut Pasteur, Université de Paris, Immunoregulation Unit, Department of Immunology, Paris, France, Paris, France, ¹⁵Swiss Centre of Expertise in Life Course Research LIVES, Lausanne and Geneva, Geneva, Switzerland, Geneva, Switzerland, ¹⁶University of Cantabria, Fundación Jimenez Díaz, Madrid, Madrid, Spain, ¹⁷INSERM, UMRS 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, and Sorbonne University – Assistance Publique-Hôpitaux de Paris, Département de Rhumatologie, Hôpital Pitié-Salpêtrière, Paris, Ile-de-France, France, ¹⁸Department of Rheumatology, Helios Clinic Vogelsang-Gommern, cooperation partner of the Otto von Guericke University Magdeburg, Gommern, Germany, ¹⁹Rheumatology, Immunology and Clinical Medicine Unit, Department of Medicine, University of Rome "Campus Bio-Medico", Roma, Italy
Background/Purpose: Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder of unknown aetiology usually affecting young adults. Despite the evidence increasingly reporting the efficacy…
Abstract Number: 2509 • ACR Convergence 2024
Bone Marrow Failure in VEXAS Is Associated with the Degree of UBA1b Deficiency
Benjamin Turturice¹, Alice Fike¹, Bhavisha Patel², Emma Groarke², Karyssa Stonick¹, Shanni Liu¹, Wendy Goodspeed¹, Kaitlin Quinn¹, Neal Young² and Peter Grayson³, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, ³National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD
Background/Purpose: VEXAS is a multisystem autoinflammatory disorder due to somatic mutations in UBA1. The disease is characterized by ineffective hematopoiesis with increased risk of transfusion…
Abstract Number: 0316 • ACR Convergence 2024
Development and Evaluation of the Adult-onset Still’s Disease Activity Index Based on Whole RNA-seq Analysis: A Novel Approach Independent of Tocilizumab Treatment
Mayu Magi¹, Hiroto Yoshida¹, Hiroya Tamai², Kotaro Matsumoto², Keiko Yoshimoto², Yoshihiro Matsumoto¹, Tetsuhiro Soeda¹ and Yuko Kaneko², ¹Chugai Pharmaceutical Co., Ltd., Kanagawa, Japan, ²Keio University School of Medicine, Tokyo, Japan
Background/Purpose: Tocilizumab (TCZ), an anti-IL-6 receptor antibody, has been shown to be effective in the treatment of adult-onset Still's disease (AOSD), a systemic inflammatory disease.…
Abstract Number: 0925 • ACR Convergence 2024
Macrophages Produce Bone Anabolic Factors in Settings of Inflammation-Induced Bone Formation
Jia (Sijia) Chen¹, Megan Hanlon², Catherine Manning³, Susan MacLauchlan¹, Paul Hoover⁴, Christian Jacome-Galarza⁵ and Ellen Gravallese⁶, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women’s Hospital, Boston, MA, ³Brigham and Women's Hospital, Dedham, MA, ⁴Brigham and Women's Hospital, SWAMPSCOTT, MA, ⁵Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁶Brigham and Women's Hospital, Harvard Medical School, Chestnut Hill, MA
Background/Purpose: Understanding the pathogenesis of inflammation-induced pathologic bone formation remains a significant challenge in spondyloarthritis patients. We thought to uncover the pivotal events driving the…
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: 2032 • ACR Convergence 2024
A Systematic Review of Treatment Strategies in VEXAS Syndrome
Aviraag Vijaya Prakash¹, Jose Garcia², Anurag Goel³, Vinit Gilvaz⁴ and Raveena Midha⁵, ¹Saint Vincent Hospital, Department of Internal Medicine, Worcester, MA, ²Brown University, East Greenwich, RI, ³The Warren Alpert Medical School of Brown University, Providence, RI, ⁴The Warren Alpert Medical School of Brown University, East Providence, RI, ⁵Kent Hospital/Brown University, Warwick, RI
Background/Purpose: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, first described in 2020, is an autoinflammatory condition characterized by somatic mutations in the UBA1 gene.…

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