Abstracts tagged "Autoinflammatory diseases"

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…
Abstract Number: 0387 • ACR Convergence 2024
Absolute Agreement and Inter-rater Reliability of a Web-based Standardized Scoring Tool for Magnetic Resonance Images from Children with Chronic Nonbacterial Osteomyelitis (CNO) Amongst Radiologists
Farzana Nuruzzaman¹, T. Shawn Sato², Jennifer Stimec³, Ramesh S. Iyer⁴, Andrew Carbert⁵, Joel Paschke⁵, Lauren Potts⁶, Xiaoyue Zhang⁷, Walter Maksymowych⁸, Polly Ferguson⁹ and Yongdong (Dan) Zhao¹⁰, and CARRA CRMO Workgroup, ¹Stony Brook Children's Hospital, Stony Brook, NY, ²University of Iowa, Iowa City, ³Hospital for Sick Children, Toronto, ON, Canada, ⁴Seattle Children's Hospital, Seattle, WA, ⁵CARE Arthritis, Edmonton, AB, Canada, ⁶Artist, Long Beach, CA, ⁷Renaissance School of Medicine at Stony Brook University, Stony Brook, NY, ⁸University of Alberta, Edmonton, AB, Canada, ⁹University of Iowa Carver College of Medicine, Iowa City, IA, ¹⁰University of Washington, Redmond, WA
Background/Purpose: The web-based ChRonic nonbacterial Osteomyelitis Magnetic Resonance Imaging Scoring (CROMRIS) portal was developed to assess specific features of bone and soft tissue inflammation in…
Abstract Number: 0927 • ACR Convergence 2024
Synovial Macrophage Heterogeneity and Dynamics in Steady Stateand Rheumatoid Arthritis Mouse Model Time Course
Jessica Maciuch¹, Yidan Wang², Tyler Therron³, Harris Perlman¹ and Deborah Winter⁴, ¹Northwestern University, Chicago, IL, ²Northwestern University, Hanover Park, IL, ³Northwestern University, Chicago, ⁴Northwestern University, Skokie, IL
Background/Purpose: Macrophages are vital contributors to both pro-inflammatory signaling and tissue repair processes involved in the pathogenesis and remission of Rheumatoid Arthritis (RA). Recent research…
Abstract Number: 1740 • ACR Convergence 2024
Performance of Large Language Models in Rheumatology Board-Like Questions: Accuracy, Quality, and Safety
Jaime Flores Gouyonnet¹, Mariana Gonzalez-Trevino¹, Cynthia Crowson¹, Ryan Lennon¹, Alain Sanchez-Rodriguez², Gabriel Figueroa-Parra³, Elena Joerns⁴, Bradly Kimbrough⁵, Maria Cuellar-Gutierrez¹, Erika Navarro-Mendoza¹ and Ali Duarte-Garcia¹, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic College of Medicine and Science, Rochester, MN, ³Division of Rheumatology, University Hospital "Dr. Jose Eleuterio Gonzalez", Universidad Autonoma de Nuevo Leon, Monterrey, Mexico, ⁴Mayo Clinic, Rochester, ⁵Mayo Clinic Rochester, Rochester, MN
Background/Purpose: Large language models (LLMs) are increasingly becoming a common source of information for clinicians. We aimed to evaluate the accuracy, quality, and safety of…
Abstract Number: 2039 • ACR Convergence 2024
Canakinumab Treatment in Patients with Familial Mediterranean Fever: A Tertiary Center Experience
Ozkan Berke Simsek¹, Ali Ayla² and Serdal Ugurlu³, ¹Istanbul University-Cerrahpasa, Istanbul, ²UTHealth Houston Division of Rheumatology, Houston, TX, ³Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Canakinumab is one of the most commonly used second-line agents in familial Mediterranean fever (FMF) after treatment failure or discontinuation of colchicine treatment. The…
Abstract Number: 2627 • ACR Convergence 2024
Development and Validation of a Novel Score System to Guide Diagnostic Procedures in Children with Concerns of Chronic Nonbacterial Osteomyelitis
Rajdeep Pooni¹, Sarah Menashe², Melissa Oliver³, Anja Schnabel⁴, Eveline Wu⁵, Zhaoyi Wang⁶, Claire Yang⁷, Achille Marino⁸, Cassyanne Aguiar⁹, Johnathan Akikusa¹⁰, Ummusen Kaya Akca¹¹, Beverly Almeida¹², Simone Appenzeller¹³, Ozge Basaran¹⁴, Matthew Basiaga¹⁵, David Cabral¹⁶, Martina Capponi¹⁷, nathan Donaldson¹⁸, Bugra Egeli¹⁹, Emily Fox²⁰, Antonella insalaco²¹, Ramesh Iyer²², Annette Jansson²³, Inna Kostik²⁴, Mikhail Kostik²⁵, Leonard Kovalick²⁶, Katia Kozu²⁷, Sivia Lapidus²⁸, Tzielan Lee²⁹, Aleksander Lenert³⁰, Kamran Mahmood³¹, Edoardo Marrani³², Doaa Mosa³³, Alexander Mushkin³⁴, Farzana Nuruzzaman³⁵, Karen Onel³⁶, Manuela Pardeo²¹, Trang Pham²², Lauren Potts³⁷, Athimalaipet Ramanan³⁸, Angelo Ravelli³⁹, Nathan Rogers¹⁸, Ian Muse⁴⁰, Micol Romano⁴¹, natalie Roseenwasser²², T. Shawn Sato⁴², Gabriele Simonini⁴³, jennifer Soep¹⁸, Sara Stern⁴⁴, Alexander Theos⁴⁵, Lori Tucker⁴⁶, Leslie Vogel², Shima Yasin³⁰, Katerina Bouchalova⁴⁷, Alison Hendry⁴⁸, Kevin Cain⁴⁹, Hermann Girschick⁵⁰, Fatma Dedeoglu¹⁹, Christian Hedrich⁵¹, Ronald Laxer⁵², Polly Ferguson³⁰, Seza Ozen⁵³ and Yongdong Zhao⁵⁴, ¹Stanford University, Berkeley, CA, ²Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, ³Riley Hospital for Children, Indiana University School of Medicine, Indianopolis, IN, ⁴Pediatric Rheumatology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany, ⁵University of North Carolina School of Medicine, Chapel Hill, NC, ⁶University of Washington School of Medicine, Seattle, Seattle, WA, ⁷Seattle Children's Hospital, Seattle, ⁸ASST Gaetano Pini-CTO, Milan, Italy, Milan, Italy, ⁹Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA, ¹⁰Royal Children's Hospital, Melbourne, Australia, ¹¹Hacettepe University, Division of Pediatric Rheumatology, Department of Pediatrics, Faculty of Medicine, Ankara, Turkey, ¹²Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom, ¹³Unicamp, Campinas, SP, Brazil, ¹⁴Hacettepe University, Ankara, Turkey, ¹⁵Mayo Clinic, Rochester, MN, ¹⁶BC Children's Hospital and University of British Columbia, Vancouver, BC, Canada, ¹⁷Sapienza University, Rome, Italy, ¹⁸University of Colorado School of Medicine, Aurora, CO, ¹⁹Boston Children's Hospital, Boston, MA, ²⁰Children's Mercy Hospital, Kansas City, MO, ²¹IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ²²University of Washington School of Medicine, Seattle, WA, ²³Dr. von Hauner Children´s Hospital, Munich, Germany, ²⁴Sanatorium for children Detskie Dyuny, Saint-Petersburg, Russia, ²⁵Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia, ²⁶The University of North Carolina at Chapel Hill, Chapel Hill, NC, ²⁷Instituto da Criança e do Adolescente, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil, ²⁸Hackensack University Medical Center, Montclair, NJ, ²⁹Stanford University School of Medicine, Palo Alto, CA, ³⁰Carver College of Medicine, University of Iowa Hospitals & Clinics, Iowa City, IA, ³¹Alder Hey Children's Hospital, Liverpool, United Kingdom, ³²ERN ReCONNET center, Meyer Children's Hospital-IRCCS, Firenze, Italy, ³³Mansoura University Hospital, Mansoura City, Egypt, ³⁴Science-Research Institute of Phthisiopulmonology, Saint-Petersburg, Russia, ³⁵Renaissance School of Medicine at Stony Brook University, Stony Brook, NY, ³⁶HSS, New York, NY, ³⁷Patient Research Partner, Long Beach, CA, ³⁸Bristol Royal Hosp for Children, Bristol, United Kingdom, ³⁹IRCCS Giannina Gaslini, Genoa, Italy, ⁴⁰Seattle Children's Research institute, Seattle, WA, ⁴¹Behcet and Autoinflammatory Disease Center, Western University, London, ON, Canada, ⁴²University of Iowa, Iowa City, ⁴³Meyer Children Hospital IRCCS; NEUROFARBA Department, University of Florence, Florence, Italy, ⁴⁴University of Utah, Salt Lake City, UT, ⁴⁵Patient/parent partner, Washington DC, DC, ⁴⁶BC Children's Hospital, Vancouver, BC, Canada, ⁴⁷Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital, Olomouc, Czech Republic,⁴⁸Division of Medicine Middlemore Hospital Counties Manukau District Health, Auckland, New Zealand, ⁴⁹University of Washington, Seattle, WA, ⁵⁰Vivantes Clinic Friedrichshain, Berlin, Germany, ⁵¹University of Liverpool, Liverpool, United Kingdom, ⁵²SickKids, Toronto, ON, Canada, ⁵³Department of Pediatrics, Hacettepe University, Ankara, Turkey, ⁵⁴Seattle Children's Research institute, Seattle, WA
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disease. The diagnosis of CNO is made by recognizing typical clinical and imaging presentation and excluding…
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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