Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0302 • ACR Convergence 2024
TNFAIP3 Loss-of-function and Missense Mutations Demonstrate Clinically Diverse Presentations: A Multi-center Cohort Experience
Elizabeth Kairis¹, Manuel Carpio Tumba¹, Urekha Karri¹, Magdalena Harasimowicz¹, Megan Cooper², Lance Peterson², Priscilla Campbell-Stokes³, Juan Carlos Aldave-Becerra⁴, Ana Beatriz Muñoz-Urribarri⁴ and Daniella Schwartz¹, ¹University of Pittsburgh, Pittsburgh, PA, ²Washington University School of Medicine, St. Louis, MO, ³Child Health Service, Hutt Hospital, National Pediatric Rheumatologic Service, Te Whatu Ora, New Zealand, ⁴Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru
Background/Purpose: A20 is a critical anti-inflammatory protein encoded by the TNFAIP3 (tumor necrosis factor alpha-induced protein 3) gene. A20 negatively regulates multiple anti-inflammatory pathways including…
Abstract Number: 0921 • ACR Convergence 2024
Deep Immunologic Profiling of Trisomy 8-associated Autoinflammatory Disease (TRIAD)
Kalpana Manthiram¹, Lihong Shi¹, Yue Zhang², Bayu Sisay³, Shouguo Gao⁴, Zhijie Wu⁴, Qin Xu¹, Mary Bowes², Laura Failla², Neelam Redekar², Abdel Elkahloun³, Pamela Schwartzberg¹ and Daniel Kastner³, ¹National Institute of Allergy and Infectious Disease, Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, Bethesda, MD, ³National Human Genome Research Institute, Bethesda, MD, ⁴National Heart, Lung, and Blood Institute, Bethesda, MD
Background/Purpose: Trisomy 8 mosaicism is associated with an inflammatory disease characterized by recurrent fever and oral, genital, and gastrointestinal ulcers, resembling Behçet’s disease. Little is…
Abstract Number: 1621 • ACR Convergence 2024
Analysis of Hospitalizations of Adult Patients with Kawasaki’s Disease: A United States Population Based Study
Ufuoma Mamoh¹, Soziema Salia¹, Joan Morny², Jesse Odion³, Elem Ewuru⁴, Precious Onobraigho⁵, Eugene Omoike⁵, Oyidia Ijioma⁶, Osaruese Ezomo⁷ and Ehizogie Edigin⁸, ¹Medstar Union Memorial Hospital, Baltimore, MD, ²Piedmont Athens Regional Medical Center, Athens, GA, ³Royal Devon University Healthcare NHS Foundation Trust, Barnstaple, United Kingdom, ⁴Acute and Emergency Care United Kingdom Medway Maritime Hospital, Gillingham, ⁵College of Medicine, University of Benin, Benin, Nigeria, ⁶Department of Clinical Psychiatry, University of South Wales, Wales, United Kingdom, ⁷Department of Gastroenterology, Spire Manchester Hospital, Manchester, United Kingdom, ⁸The University of Texas Health Science Center, houston, TX
Background/Purpose: Kawasaki disease (KD) is a systemic vasculitis, typically affecting young children, and is the leading cause of acquired heart disease in children in developed…
Abstract Number: 2028 • ACR Convergence 2024
Therapeutic Insights in VEXAS Syndrome from a Multicenter Study in Spain: Moving Towards Amore Specific and Effective Treatment
Marta López I Gómez¹, Paula García Escudero², Berta Magallanes López³, Alicia García Dorta⁴, Beatriz Frade-Sosa⁵, Meritxell Sallés Lizarzaburu⁶, Íñigo Rúa-Figueroa⁷, Dolly Viviana Fiallo Suárez⁸, Francisco Javier Toyos Sáenz de Miera⁹, Rafael Benito Melero-Gonzalez¹⁰, Diego Dios Santos¹¹, Jose Alberto Miranda¹², Clara Garcia Belando¹³, Giuliano Boselli¹⁴, Alina Lucica Boteanu¹⁵, Cristina Corrales Selaya¹⁶, cristiana sieiro santos¹⁷, Elvira Díez Álvarez¹⁸, Judit Font¹⁹, Elena Riera Alonso²⁰, Ernesto Trallero Araguás²¹, Eugenia Enríquez Merayo²², Maria Rodriguez-Laguna²³, irene monjo²⁴, Ignacio Vázquez Gómez²⁵, Paloma Vela-Casasempere²⁶, Carolina Merino²⁷, Marta Ibáñez Martínez²⁸, José Ángel Hernández Beriain²⁹, ALBERTO MARIANO RUIZ ROMAN³⁰ and Jaime Calvo-Alén³¹, ¹Hospital Universitario Alava, Vitoria, Pais Vasco, Spain, ²Hospital Universitario Araba, Vitoria, ³Hospital de la Santa Creu i Sant Pau, Barcelona, ⁴Rheumatologist, La Laguna, Spain, ⁵Hospital Clinic de Barcelona, Barcelona, Spain, ⁶Althaia Xarxa Assistencial Universitària Manresa, Manresa, Catalonia, Spain, ⁷Department of Rheumatology, Hospital Universitario Doctor Negrín, Las Palmas de Gran Canaria, Las Palmas GC, Spain, ⁸H. U. de Gran Canaria. Dr. Negrin, H. U. de Gran Canaria, ⁹H. U. Virgen Macarena, H. U. Virgen Macarena, ¹⁰CHU Ourense, O Carballino, Spain, ¹¹C. H. U. A Coruña, C. H. U. A Coruña, ¹²C. H. U. Lucus Augusti (Lugo), (Lugo), ¹³H. C. U. Virgen de la Arrixaca, Murcia, ¹⁴hospital miguel servet, zaragoza, Aragon, Spain, ¹⁵H.U. Ramón y Cajal, Madrid, Spain, ¹⁶Rheumatology, Marques de Valdecilla University Hospital. IDIVAL, Santander, Cantabria, Spain, ¹⁷Rheumatology Department, Complejo Asistencial Universitario de León, León, Spain, Leon, Spain, ¹⁸Complejo Asistencial Universitario de León, León, Spain, ¹⁹Hospital Germans Trias i Pujol, Barcelona, Spain, ²⁰Mutua de Terrasa, Barcelona, ²¹Hospital Vall D'Hebron, Barcelona, Spain, ²²Hospital 12 de Octubre, Madrid, ²³Resident in Rheumatology, Madrid, Spain, ²⁴University Hospital La Paz, Madrid, Spain, ²⁵H. U. Dr. Peset, Valencia, ²⁶Hospital General Universitario Alicante, Alicante, Spain, ²⁷Hospital Universitario Puerta de Hierro Majadahonda., Majadahonda (Madrid), Spain, ²⁸Hospital Clínico Universitario de Salamanca, Salamanca, Spain, ²⁹Rheumatology Department. Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran C, Spain, ³⁰Hospital Universitario Juan Ramón Jiménez, Huelva, Spain, ³¹Department of Rheumatology, Hospital Araba, Vitoria, Pais Vasco, Spain
Background/Purpose: Nearly four years since its characterization, management and therapeutic algorithms for VEXAS syndrome remain unclear. This study aims to describe treatment approaches and assess…
Abstract Number: 2503 • ACR Convergence 2024
Hypothalamic-Pituitary-Adrenal Axis Suppression by Prednisolone Reversed by the 11β-Hydroxysteroid Dehydrogenase Type 1 Inhibitor Clofutriben
Frank S Czerwiec¹, Irina Bancos², Paul M Stewart³, Ketan Desai¹ and David A Katz¹, ¹Sparrow Pharmaceuticals, Portland, OR, ²Mayo Clinic, Rochester, MN, ³University of Leeds, Leeds, United Kingdom
Background/Purpose: Approximately 1% of the population rely on chronic glucocorticoid (GC) prescription to control autoimmune and inflammatory conditions. Risk of GC induced adrenal insufficiency (GC-AI)…
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.…
Abstract Number: 2569 • ACR Convergence 2024
A Novel Hyperferritinemia Screen to Aid Differentiation of Hyperinflammatory Disorders
Hallie Carol¹, Adam Mayer², Jemy Varghese³, Zachary Martinez⁴, Caroline Diorio⁴, Paul Tsoukas⁵, Kate Kernan⁶ and Scott Canna⁷, ¹Children's Hospital of Philadelphia, Philadelphia, ²University of Pennsylvania/Children's Hospital of Philadelphia, Philadelphia, PA, ³Division of Pediatric Rheumatology, The Children’s Hospital of Philadelphia, Philadelphia, PA, ⁴Division of Pediatric Oncology, The Children’s Hospital of Philadelphia, Philadelphia, PA, ⁵Hospital for Sick Children/University of Toronto, Toronto, ON, Canada, ⁶Department of Critical Care Medicine, University of Pittsburgh School of Medicine, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, ⁷Children's Hospital of Philadelphia, Philadelphia, PA
Background/Purpose: High ferritin is an important and sensitive biomarker for the diverse and deadly group of cytokine storm syndromes grouped together under the term hemophagocytic…

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