Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 1136 • ACR Convergence 2023
Challenges in Diagnosing VEXAS Syndrome: Delayed Diagnosis, Misdiagnosis, and Associations with Specific Gene Mutations
Paula García Escudero¹, Marta López i Gómez², Marta López Maraver³, PALOMA VELA⁴, María Rodríguez Laguna⁵, carolina Merino⁶, Ana Victoria Orenes Vera⁷, Clara García Belando⁸, Diego Dios Santos⁹, Jose Alberto Miranda Filloy¹⁰, Francisco Javier Toyos Sáenz de Miera¹¹, Alicia Garcia Dorta¹², Ignacio Vázquez¹³, José Ángel Hernández Beriain¹⁴, MARIA ELVIRA DIEZ ALVAREZ¹⁵, Marta Ibáñez Martínez¹⁶, Beatriz Frade Sosa¹⁷, Judit Font Urgelles¹⁸, Meritxell Salles Lizarzaburu¹⁹, Elena Riera Alonso²⁰, Ernesto Trallero Araguás²¹, Berta Magallanes López²², Joaquín Belzunegui Otano²³, Carlos de Miguel Sánchez²⁴, Zuriñe Ortiz de Zárate Caballero²⁵ and Jaime Calvo Alén²⁶, ¹Hospital Universitario Araba, Bilbao, Spain, ²Hospital Universitario de Araba, Pamplona, Spain, ³Hospital Universitario de Araba, Vitoria, Spain, ⁴Rheumatology, Hospital General Universitario Alicante, Alicante, Spain, ⁵H. Clínico San Carlos, Madrid, Spain, ⁶Rheumatology Department Hospital Universitario Puerta de Hierro, Majadahonda (Madrid), Spain, ⁷H. Arnau de Vilanova, Valencia, Spain, ⁸Hospital Los Arcos del Mar Menor, Murcia, Spain, ⁹Rheumatology department, Complexo Hospitalario Universitario A Coruña (CHUAC). Instituto de Investigación Biomédica A Coruña (INIBIC), A Coruña, Spain, ¹⁰C. H. U. Lucus Augusti, Lugo, Spain, ¹¹Hospital Virgen Macarena, Sevilla, Spain, ¹²Rheumatology Unit, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain, ¹³H. U. Dr. Peset, Valencia, Spain, ¹⁴Rheumatology, Hospital Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain, ¹⁵Rheumatology, Hospital Universitario de León, León, Spain, ¹⁶C. A. U. de Salamanca, Salamanca, Spain, ¹⁷Hospital Clínic de Barcelona, Barcelona, Spain, ¹⁸Hospital Universitario Germans Trías i Pujol, Barcelona, Spain, ¹⁹C. H. de Manresa - Fundació Althaia, Barcelona, Spain, ²⁰Hospital Universitario Mútua Terrassa, Barcelona, Spain, ²¹Department of Rheumatology, Hospital Universitario Vall d'Hebron, Barcelona, Spain, ²²Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, ²³Hospital Universitario Donosti, Donosti, Spain, ²⁴Hospital Universitario de Araba, Hematology, VItoria, Spain, ²⁵Hospital Universitario de Araba, Internal Medicine, Vitoria, Spain, ²⁶Hospital Universitario Araba, Vitoria, Spain
Background/Purpose: The newly described VEXAS syndrome is a very heterogenous disease with rheumatologic and hematologic manifestations, caused by somatic mutations affecting UBA1 gene, that still…
Abstract Number: 1921 • ACR Convergence 2023
Clinical Spectrum of VEXAS Syndrome in a Rheumatology Department
Herman Mann¹, Blanka Stiburkova², Katerina Pavelcova¹, Monika Belickova³, Cyril Salek³, Jana Juhaszova¹ and Jiri Vencovsky⁴, ¹Institute of Rheumatology, Praha 2, Czech Republic, ²Institute of Rheumatology, Prague, Czech Republic, ³Institute of Hematology and Blood Transfusion, Praha 2, Czech Republic, ⁴Institute of Rheumatology, Prague, Czech Republic, Department of Rheumatology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
Background/Purpose: VEXAS (vacuoles, E1 activating enzyme, X-linked, auto-inflammatory, somatic) syndrome is a clinically serious and potentially fatal adult-onset disease caused by somatic mutations in the…
Abstract Number: 2519 • ACR Convergence 2023
A Phase II Clinical Study to Investigate the Efficacy and Safety of Hemay005 Tablets in Patients with Active Behçet`sDisease
Charles Jones¹, Zhanguo Li², Zhuoli Zhang³, Jian Wu⁴, Guixiu Shi⁵, Wenjie Zheng⁶, Jianping Tang⁷, Xiaobing Wang⁸, Lie Dai⁹, Lin Chen¹⁰, Yasong Li¹¹, Ling Wu¹², Yongfu Wang¹³, Shengyun Liu¹⁴, Yao Ke¹⁵, Jin Lin¹⁶, Zhenchun Zhang¹⁷, Jiankang Hu¹⁸, Wantai Dang¹⁹, Songlou Yin²⁰, Xin Tang²¹, Mingfei Zhu²², Jinfeng Lin²², Richard Jones²², Weiguo Wan²³ and xianjun Hu²², ¹Hemay Pharmaceuticals, Tianjin, China, ²Peking University Health Science Center, Department of Rheumatology and Immunology, People's Hospital, Beijing, China, ³Peking University First Hospital, Rheumatology and Immunology Department, Beijing, China, ⁴Suzhou University Affiliated First Hospital, Suzhou, China, ⁵the First Affiliated Hospital of Xiamen University, Xiamen, China, ⁶Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Beijing, China, ⁷Shanghai Tongji Hospital, Shanghai, China, ⁸The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China, ⁹Department of Rheumatology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China, ¹⁰Jilin Provincial People's Hospital, Changchun, China, ¹¹11Zhejiang Provincial People's Hospital, Hangzhou, China, ¹²University of Hong Kong Shenzhen Hospital, Shenzhen, China, ¹³The First Affiliated Hospital of Baotou Medical College, Baotou, China, ¹⁴The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China, ¹⁵Jiangsu Provincial People's Hospital, Nanjing, China, ¹⁶The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China, ¹⁷Linyi People's Hospital, Linyi, China, ¹⁸Pingxiang People’s Hospital, PingXiang, China, ¹⁹The First Affiliated Hospital of Chengdu Medical College, Chengdu, China, ²⁰Xuzhou Medical University Affiliated Hospital, Xuzhou, China, ²¹Bestudy (Shanghai) Medical Technology Co., Ltd, Shanghai, China, ²²Clinical Department, Tianjin Hemay Pharmaceutical Co., Ltd., Tianjin, China, ²³Huashan Hospital Affiliated to Fudan University, Shanghai, China
Background/Purpose: Behçet's disease (BD) is a chronic and recurrent vascular inflammatory disease with major manifestations including oral ulcers, genital ulcers, skin damage and ophthalmitis, and…
Abstract Number: 0028 • ACR Convergence 2023
Adenosine Deaminase 2 Is Expressed as a Short Isoform Lacking Deaminase Activity in the Endothelium: Implications for DADA2 Vasculitis
Andrew Porter¹, Robert Maughan¹, Charis Pericleous¹, Lida Kabir¹, Richard Stratton², Dorian Haskard¹, Pui Lee³, Taryn Youngstein¹ and Justin Mason¹, ¹National Heart & Lung Institute, Imperial College London, London, United Kingdom, ²University College London, London, United Kingdom, ³Division of Immunology, Boston Children's Hospital, Boston, MA
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive condition caused by biallelic variants in the Adenosine deaminase 2 (ADA2) gene. Clinical manifestations…
Abstract Number: 0276 • ACR Convergence 2023
Disease Control in Patients with Monogenetic Autoinflammatory Diseases Under Canakinumab Treatment – Comparison of 30 Months Interim Data from the RELIANCE Registry
Ivan Foeldvari¹, Tilmann Kallinich², Norbert Blank³, Joerg Henes⁴, Birgit Kortus-Goetze⁵, Prasad T. Oommen⁶, Anne Pankow⁷, Tobias Krickau⁸, Catharina Schuetz⁹, Gerd Horneff¹⁰, Juergen Rech¹¹, Frank Weller-Heinemann¹², Ales Janda¹³, Markus Hufnagel¹⁴, Florian M. Meier¹⁵, Frank Dressler¹⁶, Michael Borte¹⁷, Ioana Andreica¹⁸, Peter Wasiliew¹⁹, Michael Fiene²⁰, Daniel Windschall²¹, Martin Krusche²², Tania Kuempfel²³, Julia Weber-Arden²⁴ and Jasmin B. Kuemmerle-Deschner²⁵, ¹Hamburger Zentrum für Kinder- und Jugendrheumatologie, Hamburg, Germany, ²Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, Nuremberg, Germany, ³University Hospital Heidelberg, Heidelberg, Germany, ⁴University Hospital Tuebingen, Tuebingen, Germany, ⁵Department of Internal Medicine, Division of Nephrology,University Hospital of Giessen and Marburg, Marburg, Germany, ⁶Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health,Medical Faculty Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, ⁷Department of Rheumatology and Clinical Immunology,Charité-Universitätsmedizin Berlin, Berlin, Germany, ⁸Pediatrics, Friedrich-Alexander University Erlangen-Nuernberg (FAU), Erlangen, Germany, ⁹Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus,Technische Universität Dresden, Dresden, Germany, ¹⁰Asklepios Klinik Sankt Augustin GmbH, Bonn, Germany, ¹¹University Clinic Erlangen, Erlangen, Germany, ¹²Division of Pediatric Rheumatology, Prof. Hess Children's Hospital, Bremen, Bremen, Germany, ¹³Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany, ¹⁴Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Medical Center, Medical Faculty, University of Freiburg, Freiburg, Germany, ¹⁵Department of General Pharmacology and Toxicology, Goethe University Hospital and Goethe University Frankfurt, Frankfurt am Main, Germany, ¹⁶Department of Paediatric Pneumology, Allergology and Neonatology, Children's Hospital, Hannover Medical School, Hannover, Germany, ¹⁷Hospital for Children & Adolescents, St. Georg Hospital, Leipzig, Germany, ¹⁸Rheumazentrum Ruhrgebiet Herne, Herne, Germany, ¹⁹Division of Pediatric Rheumatology and autoinflammation reference center Tuebingen, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ²⁰Rheumatology Center Greifswald, Greifswald, Germany, ²¹Clinic of Paediatric and Adolescent Rheumatology, St. Josef-Stift Sendenhorst, Northwest German Center for Rheumatology, Sendenhorst, Germany, ²²UKE, Hamburg, Germany, ²³Institute of Clinical Neuroimmunology, Biomedical Center and University Hospital, Ludwig-Maximilians Universität München, Muenchen, Germany, ²⁴Novartis Innovative Medicines, Nuernberg, Germany, ²⁵med.uni-tuebingen, Tübingen, Germany
Background/Purpose: Treatment of autoinflammatory periodic diseases (AID) with the interleukin-1β inhibitor canakinumab (CAN) has been shown to be safe and effective in controlled trials and…
Abstract Number: 1139 • ACR Convergence 2023
From Skin to Bone Lesions: A Pioneer Study Unraveling the Underdiagnosis of SAPHO Syndrome in the Dominican Republic
Leeany Maletta¹, Diana Jimenez² and Rosanna de Jesus³, ¹UNIBE School of Medicine, San Antonio, TX, ²UNIBE School of Medicine, Miami, FL, ³Hospital General Plaza de la Salud, Distrito Nacional, Dominican Republic
Background/Purpose: SAPHO syndrome is a rare chronic inflammatory condition that affects the skin and osteoarticular structures. Despite being first described over 30 years ago, it…
Abstract Number: 1925 • ACR Convergence 2023
Importance of the Patient Pain Experience in Disease Activity Assessment in the Adult SAPHO and Chronic Nonbacterial Osteomyelitis Study
Aleksander Lenert¹, Robyn Domsic², Karmela Kim Chan³, Melissa Oliver⁴, Jisna Paul⁵, Courtney Kremer⁶, Emma Leisinger¹, Helena Abodeely¹, Sandy Hong⁶, Arundathi Jayatilleke⁷, Petar Lenert⁸, T. Shawn Sato¹, Yongdong (Dan) Zhao⁹, Jonathan Templin¹, Mary Vaughan-Sarrazin¹, Daniel Solomon¹⁰ and Polly Ferguson¹¹, ¹University of Iowa, Iowa City, IA, ²University of Pittsburgh, Pittsburgh, PA, ³Hospital For Special Surgery, New York, NY, ⁴Indiana University, Indianapolis, IN, ⁵Ohio State University Hospital, Columbus, OH, ⁶University of Iowa Stead Family Children's Hospital, Iowa City, IA, ⁷Temple University, Philadelphia, PA, ⁸University of Iowa Hospitals and Clinics, Iowa City, IA, ⁹University of Washington, Seattle, WA, ¹⁰Brigham and Women's Hospital, Boston, MA, ¹¹University of Iowa Carver College of Medicine, Iowa City, IA
Background/Purpose: Musculoskeletal pain is a key symptom experienced by patients with SAPHO and chronic nonbacterial osteomyelitis (SAPHO-CNO), yet its relation to disease activity assessment remains…
Abstract Number: 2570 • ACR Convergence 2023
Thrombosis in Patients with VEXAS Syndrome: A Retrospective Cohort Study
Atefeh Ghorbanzadeh¹, Yael Kusne², Alina Dulau-Florea³, Ruba Shalhoub³, Pedro Alcedo³, Khanh Nghiem³, Marcela Ferrada⁴, alexander hines¹, Sumith Panicker³, amanda ombrello⁵, Kaaren K. Reichard¹, Ivana Darden³, Wendy Goodspeed³, Lorena wilson³, Horatiu Olteanu¹, Terra L. Lasho¹, Daniel Kastner⁶, Kenneth Warrington¹, Abhishek A. Mangaonkar¹, Ronald Go¹, David Beck⁷, Mrinal S. Patnaik¹, Neal S. Young⁸, Katherine R. Calvo³, Ana Casanegra⁹, Peter Grayson¹⁰, Matthew Koster¹, Colin O Wu³, Damon E. Houghton⁹, Bhavisha Patel¹¹, Yogen Kanthi¹² and Emma M. Groarke¹³, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic, Phoenix, AZ, ³National Institutes of Health (NIH), Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁵National Institutes of Health, Rockville, MD, ⁶National Human Genome Research Institute, Bethesda, MD, ⁷New York University, New York, NY, ⁸National Institutes of Health (NIH), Rochester, MD, ⁹Mayo Clinic, Rochester, MD, ¹⁰National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD, ¹¹National Institutes of Health, Beltsville, MD, ¹²National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, ¹³Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, due to somatic mutations in the UBA1 gene, is an autoinflammatory disorder associated with an increased…
Abstract Number: 0039 • ACR Convergence 2023
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis
Mariana Correia Marques¹, Danielle Rubin¹, Emily Shuldiner², Mallika Datta¹, Elizabeth Schmitz¹, Alexei Grom³, Dirk Foell⁴, Marco Gattorno⁵, John Bohnsack⁶, Rae Yeung⁷, Sampath Prahalad⁸, Elizabeth Mellins⁹, Jordi Anton Lopez¹⁰, Claudio Len¹¹, Sheila Oliveira¹², Patricia Woo¹³, Seza Ozen¹⁴, INCHARGE Consortium¹, Zuoming Deng¹⁵ and Michael Ombrello¹, ¹National Institute of Arthritis & Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²Department of Biology, Stanford University, Stanford, CA, ³Division of Rheumatology, Cincinnati Children`s Hospital, Cincinnati, OH, ⁴University Hospital Münster, Münster, Germany, ⁵UOC Reumatologia e Malattie Autoinfiammatorie, Genoa, Italy, ⁶University of Utah, Salt Lake City, UT, ⁷The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁸Emory University School of Medicine, Children's Pediatric Institute, Atlanta, GA, ⁹Stanford University, Stanford, CA, ¹⁰Pediatric Rheumatology Department, Hospital Sant Joan e Deu, Barcelona University, Barcelona, Spain, ¹¹São Paulo Federal University, São Paulo, Brazil, ¹²Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹³University College London, London, United Kingdom, ¹⁴Hacettepe University Medical Faculty, Ankara, Turkey, ¹⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a complex inflammatory condition of childhood. It can be complicated by macrophage activation syndrome (MAS), a secondary form…
Abstract Number: 0278 • ACR Convergence 2023
NOD2 Genotyping Landscape in Yao Syndrome
Hafsa Nomani¹, Ashmia Saif², Frank Hwang¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Stony Brook University Hospital, Syosset, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. This study…
Abstract Number: 1146 • ACR Convergence 2023
Gene X Environment Paradigm: Exemplified by Selected Cases of Autoinflammatory Diseases
Qingping Yao and Peter Gorevic, Stony Brook University, Stony Brook, NY
Background/Purpose: The current scientific opinion holds that gene and environment (G X E) interactions contribute to certain human diseases. Systemic autoinflammatory diseases (SAIDs) are usually…
Abstract Number: 1929 • ACR Convergence 2023
Anakinra Treatment in Idiopathic Recurrent Pericarditis: A Single-center Experience
Zeynep Toker Dincer¹, Sejla Karup², Erkin Yilmaz¹, Osman Corbali¹ and Serdal Ugurlu¹, ¹Istanbul University-Cerrahpasa, Istanbul, Turkey, ²Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Idiopathic recurrent pericarditis (IRP) is defined by recurring episodes of pericardial inflammation without a known cause. This study investigates the safety and efficacy of…
Abstract Number: PP11 • ACR Convergence 2023
We Suffered For Decades, But Then She Was Born
Ian Stedman¹ and Barbara Stedman², ¹Canadian Autoinflammatory Network, Vaughan, ON, Canada, ²Canadian Autoinflammatory Network, Turkey Point, ON, Canada
Background/Purpose: I was born in 1981; my mother in 1949; and my grandmother in 1926. Our story runs at least four generations deep, that we…
Abstract Number: 0064 • ACR Convergence 2023
Correlation of Anti-DFS70 Autoantibodies by ELISA with HEp-2 Cells DFS Pattern by IFA
Vincent ricchiuti¹, Michael Nappi², Kelly Chun², Ajay Grover¹ and Rubio Punzalan², ¹Labcorp, Dublin, OH, ²Labcorp, Calabasas, CA
Background/Purpose: The discovery and characterization of the dense fine speckled (DFS, ICAP AC-2) nuclear pattern of antinuclear autoantibodies (ANA) detected in HEp-2 cells by indirect…
Abstract Number: 0306 • ACR Convergence 2023
Fitbit Is a Valid and Reliable Physical Activity Monitor in Idiopathic Inflammatory Myopathy
Akanksha Sharma¹, shiri keret², Raisa Lomanto Silva³, Tanya Chandra⁴, Joel Levin⁵, Siamak Moghadam-Kia³, Chester V. Oddis⁶ and Rohit Aggarwal⁶, ¹UPMC Mercy Hospital, Pittsburgh, PA, ²Bnai Zion, Atlit, Israel, ³University of Pittsburgh Medical Center, Pittsburgh, PA, ⁴Georgetown University Hospital, Washington, DC, ⁵University of Pittsburgh, Katz Graduate School, Pittsburgh, PA, ⁶University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Idiopathic inflammatory myopathies (IIM, myositis) are a systemic autoimmune disease leading to debilitating muscle weakness and significant limitations in daily activities. Physical activity monitor…

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