Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0818 • ACR Convergence 2022
NLRP12-associated Autoinflammatory Disease in Chinese Adult Patients: A Single-center Study
Junke Miao and Min Shen, Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China
Background/Purpose: NLRP12-associated autoinflammatory disease (NLRP12-AID) is an autosomal dominant autoinflammatory disorder caused by variants of the NLRP12 gene, which lead to a reduction of the…
Abstract Number: 1830 • ACR Convergence 2022
Characteristics of Arthritis in Familial Mediterranean Fever Patients
Ali Yagiz Ayla¹, Selcan Yenigun², sura nur baspinar³, Mebrure Burcak Yuzbasioglu², Arif Alkan³, Ibrahim Durucan³, mert kirman³, baran can polat³, sercan ergun³, Serdal Ugurlu¹ and Huri Ozdogan³, ¹Istanbul University-Cerrahpaşa, Istanbul, Turkey, ²Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, ³Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey
Background/Purpose: Arthritis is one of the most common manifestations in an FMF attack. It is usually in the form of acute mono- or oligoarthritis of…
Abstract Number: 2247 • ACR Convergence 2022
Priority Research Topics for Vaccine Uptake Among Adults with Autoimmune Conditions
Shilpa Venkatachalam¹, William Benjamin Nowell², Shubhasree Banerjee³, Kelly Gavigan⁴, Laura Stradford², Jennifer Gordon⁵, Lisa Emerich⁶, Hope Sullivan⁷, Ashira Blazer⁸, Brittany Banbury⁹, Vandana Dronadula¹, Kimberly Weaver¹⁰, Angela Degrassi⁴, Peter Merkel³, Robert McBurney¹¹, Mike Kappelman¹⁰, Jeffrey Curtis¹² and Michael George³, ¹Global Healthy Living Foundation, New York, NY, ²Global Healthy Living Foundation, Nyack, NY, ³University of Pennsylvania, Philadelphia, PA, ⁴Global Healthy Living Foundation, Upper Nyack, NY, ⁵Vasculitis Foundation, Philadelphia, ⁶iConquerMS, Waltham, MA, ⁷Inflammatory Bowel Disease (IBD) Partners, Chapel Hill, NC, ⁸Hospital for Special Surgery, New York, NY, ⁹NYU Langone, Fort Lee, NJ, ¹⁰School of Medicine, University of North Carolina (UNC), Chapel Hill, NC, ¹¹Accelerated Cure Project for Multiple Sclerosis, Waltham, MA, ¹²University of Alabama at Birmingham, Hoover, AL
Background/Purpose: Compared to the general population, adults living with autoimmune disease are at nearly twice the risk of vaccine-preventable infections, making this a high priority…
Abstract Number: 0148 • ACR Convergence 2022
Dysferlin Associated Autoinflammatory Disease Causing Systemic Inflammation and Sterile Lung Abcesses Through Impaired Efferocytosis
Farzana Bhuyan¹, Adriana Almeida de Jesus², Clinton Bradfield³, Mohammad Arif Rahman⁴, Andre Rastegar³, sundar ganesan³, Sachin Gaurav³, Sara Alehashemi³, Ronit Herzog⁵, Steven Holland³, Deborah Consilini⁶, Iain Fraser³ and Raphaela Goldbach-Mansky⁷, ¹National Institutes of Health, Bethesda, MD, ²NIAID, NIH, Silver Spring, MD, ³NIAID, Bethesda, MD, ⁴NCI, Bethesda, MD, ⁵Langone Medical Center, New York, NY, ⁶Nemours Children's Hospital-Delaware, Wilmington, DE, ⁷NIAID, NIH, Rockville
Background/Purpose: Using whole exome sequencing (WES), we identified a de novo mutation in DYSF encoding dysferlin in 2 unrelated patients with systemic inflammation and sterile…
Abstract Number: 0823 • ACR Convergence 2022
Pulmonary Manifestations in VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome: A Systematic Literature Review
Koushan Kouranloo¹, Athea Ashley², Sizheng Zhao³ and Mrinalini Dey⁴, ¹Liverpool University Hospitals NHS Foundation Trust, Liverpool, United Kingdom, ²School of Medicine, University of Liverpool, Liverpool, United Kingdom, ³University of Manchester, Liverpool, United Kingdom, ⁴Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, United Kingdom
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is a newly described auto-inflammatory disease, characterised by somatic mutation of UBA1 [1]. A consistent feature…
Abstract Number: 1834 • ACR Convergence 2022
Canakinumab Treatment in Familial Mediterranean Fever Patients with Colchicine Resistance: A Single-center Study
Ibrahim Durucan¹, Ali Yagiz Ayla², Helin Idil Besiroglu¹, Arif Alkan¹, Oguzhan Selvi¹, Huri Ozdogan¹ and Serdal Ugurlu², ¹Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey, ²Istanbul University-Cerrahpaşa, Istanbul, Turkey
Background/Purpose: Recurrent fever and serositis are the hallmarks of Familial Mediterranean fever (FMF). Colchicine is known for yielding high success in disease control by obviating…
Abstract Number: 2274 • ACR Convergence 2022
Factors Associated with Disease Flare Following SARS-CoV-2 Vaccination in People with Inflammatory Rheumatic and Musculoskeletal Diseases – Results from the Physician-Reported EULAR Coronavirus Vaccine (COVAX) Registry
Bayram Farisoğulları¹, Saskia Lawson-Tovey², Kimme Hyrich³, Laure Gossec⁴, Loreto Carmona⁵, Anja Strangfeld⁶, Elsa Mateus⁷, Martin Schaefer⁸, Ana Maria Rodrigues⁹, Eric Hachulla¹⁰, Jose A Gomez-Puerta¹¹, Marta Mosca¹², Patrick Durez¹³, Ludovic Trefond¹⁴, Tiphaine Goulenok¹⁵, Martina Cornalba¹⁶, Emoke Šteňová¹⁷, Inita Bulina¹⁸, Eva Strakova¹⁹, Julija Zepa²⁰, Nicolas Roux²¹, Olivier Brocq²², Viellard Eric²³, Bernd Raffeiner²⁴, Gerd Burmester²⁵, Xavier Mariette²⁶ and Pedro Machado²⁷, ¹Hacettepe University Faculty of Medicine Division of Rheumatology, Ankara, Turkey, ²Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, the University of Manchester, Manchester, UK AND National Institute of Health Research Manchester Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom, ³The University of Manchester, Manchester, United Kingdom, ⁴Sorbonne Université, Paris, France, ⁵Instituto de Salud Musculoesquelética (InMusc), Madrid, Spain, ⁶Deutsches Rheuma-Forschungszentrum Berlin, Berlin, Germany, ⁷EULAR, Lisboa, Portugal, ⁸German Rheumatism Research Center, Berlin, Germany, ⁹Reuma.pt, Sociedade Portuguesa de Reumatologia, Lisbon, Portugal, ¹⁰University of Lille, LILLE, France, ¹¹Hospital Clínic de Barcelona, Barcelona, Spain, ¹²Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy, ¹³Rheumatology, Cliniques Universitaires Saint-Luc – Université catholique de Louvain (UCLouvain) – Institut de Recherche Expérimentale et Clinique (IREC), Brussels, Belgium, ¹⁴Université Clermont Auvergne, CHU Clermont-Ferrand, Service de Médecine Interne, Hôpital Gabriel Montpied, INSERM U1071, Clermont-Ferrand, France, ¹⁵APHP, Paris, France, ¹⁶Dipartimento di Reumatologia e Scienze Mediche, ASST Gaetano Pini-CTO, Milano, Italy, ¹⁷University Hospital, Bratislava, Slovakia, ¹⁸Center of Rheumatology, Paul Stradins Clinical University hospital, Riga, Latvia, Riga, Latvia, ¹⁹Department of Internal Medicine, Faculty Hospital Prešov, Presov, Slovakia, ²⁰Riga Stradins University, Latvia, Pauls Stradins Clinical University Hospital, Centre of Rheumatology, Riga, Latvia, Riga, Latvia, ²¹Service de Rhumatologie, Hôpital Robert Schuman, Metz, France, ²²Rheumatology- CH Princesse Grace, Monaco, Monaco, ²³Private practice, St. Malo, France, ²⁴Department of Rheumatology, Central Hospital of Bolzano, Bolzano, Italy, ²⁵Charité University Medicine Berlin, Berlin, Germany, ²⁶Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ²⁷University College London, London, United Kingdom
Background/Purpose: To investigate the frequency and factors associated with disease flare following vaccination against SARS-CoV-2 in people with inflammatory/autoimmune rheumatic and musculoskeletal diseases (I-RMD).Methods: The…
Abstract Number: 0149 • ACR Convergence 2022
Autoinflammatory Diseases Associated with NOD2 and Other Concurrent Genetic Mutations
Hafsa Nomani, Brianne Navetta-Modrov, Mark Yun and QingPing Yao, Stony Brook University, Stony Brook, NY
Background/Purpose: Systemic autoinflammatoy diseases (SAIDs) are primarily caused by abnormal innate immune response. NOD-like receptors (NLRs) are intracellular sensors to the immune process, including NOD2,…
Abstract Number: 0864 • ACR Convergence 2022
Baseline Clinical and Laboratory Features of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease (SJIA-LD) Cohort
Esraa Eloseily¹, Min-Lee Chang², MaryEllen Riordan³, Alan Russell⁴, Marc Natter², Yukiko Kimura⁵ and Grant Schulert⁶, ¹Division of Pediatric Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Boston Children's Hospital, Boston, MA, ³Hackensack Meridian Health, Hackensack, NJ, ⁴Duke Clinical Research Institute, Duke, NC, ⁵Hackensack Meridian Health, New York, NY, ⁶Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) associated lung disease (SJIA-LD) is an emerging and life threatening clinical problem, and currently affects as many as 1…
Abstract Number: 1839 • ACR Convergence 2022
Appendicitis Still a Challenge for FMF Patients?
Şura Nur Başpınar¹, Arif Alkan², Mebrure Burcak Yuzbasioglu³, Selcan Yenigun³, Ali Yagiz Ayla⁴, Ibrahim Durucan², Mert Candan², Ali Karabiçek², Çağrı Belli², Tuğba Bayraktar², Helin Idil Besiroglu², Huri Ozdogan⁵ and Serdal Ugurlu⁴, ¹İstanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, ²Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey, ³Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, ⁴Istanbul University-Cerrahpaşa, Istanbul, Turkey, ⁵Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine Division of Rheumatology, Istanbul, Turkey
Background/Purpose: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease that is characterized by recurrent episodes of polyserositis. Episodes typically consist of fever, peritonitis, and…
Abstract Number: 1062 • ACR Convergence 2021
Telemedicine Enriched Care Model to Optimize Care for Patients with Autoinflammatory Diseases
Lea Oefelein¹, Jens Klotsche², Susanne Benseler³, Jasmin Kuemmerle-Deschner¹ and Tatjana Welzel¹, ¹Pediatric Rheumatology and Autoinflammatory Reference Center, University Children's Hospital Tuebingen, Tuebingen, Germany, ²German Rheumatism Research Center, Berlin, Germany, ³University of Calgary, Calgary, AB, Canada
Background/Purpose: Autoinflammatory diseases (AID) are severe potentially life-threatening conditions requiring personalized therapy and monitoring which only few expert centers can provide. Long travel distances impede…
Abstract Number: 1618 • ACR Convergence 2021
Disease Flares in CANDLE/PRAAS with Dose Reductions of Baricitinib
Kader Cetin Gedik¹, Grace Materne², Ana Ortega-Villa³, Gina Montealegre Sanchez⁴, Adam Reinhardt⁵, Paul Brogan⁶, Yackov Berkun⁷, Sara Murias⁸, Maria Robles⁹, Susanne Schalm¹⁰, Adriana Almeida de Jesus¹¹ and Raphaela Goldbach-Mansky¹², ¹Translational Autoinflammatory Diseases Section (TADS)/NIAID/NIH, Bethesda, MD, ²Translational Autoinflammatory Diseases Section, NIAID/NIH, Bethesda, TN, ³Biostatistics Research Branch, Division of Clinical Research, NIAID/NIH, Bethesda, ⁴NIAID/NIH, Bethesda, MD, ⁵Boys Town National Research Hospital, Omaha, NE, ⁶UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ⁷Hadassah Hebrew University Medical Center, Jerusalem, Israel, ⁸Hospital Infantil La Paz, Madrid, Spain, ⁹Eskenazi Health Center, IndianaPolis, IN, ¹⁰Rheumatologie im Zentrum, Munich, Germany, ¹¹TADS/NIAID/NIH, Silver Spring, MD, ¹²NIH/NIAID, Potomac, MD
Background/Purpose: Patients with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures /proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS) respond to treatment with baricitinib but require higher exposure…
Abstract Number: 0043 • ACR Convergence 2021
Takinib Inhibits IL-1β-Induced Activation of Signal Transducer and Activator of Transcription 3 (STAT3) in Human Rheumatoid Arthritis Synovial Fibroblasts
Anil singh¹, Paul Panipinto¹, Ruby Siegel¹, Farheen Shaikh¹, Mukesh Chourasia² and Salah-uddin Ahmed¹, ¹Washington State University, Spokane, WA, ²Amity University, Noida, India
Background/Purpose: Interleukin-1 (IL-1) is a crucial mediator of inflammatory cartilage and bone destruction in rheumatoid arthritis (RA). IL-1β signaling relies on the activation of TGF-beta…
Abstract Number: 1083 • ACR Convergence 2021
Outcomes of COVID-19 Illness in Systemic Autoinflammatory Diseases and Changes in Flares During the COVID-19 Pandemic: An International Survey
Samira Nazzar Romero¹, Lakshmi Moorthy², Jennifer Tousseau³, Sivia Lapidus⁴, Mariana Correia Marques⁵, Leanne Mansfield⁶, Marinka Twilt⁷, Grant Schulert⁸, Maria Gutierrez⁹, Saskya Angevare¹⁰, Fatma Dedeoglu¹¹ and Karen Durrant¹², ¹University of California Los Angeles, Los Angeles, CA, ²Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, ³Autoinflamamtory Alliance, Lincoln, CA, ⁴The Joseph M. Sanzari Children's Hospital, Hackensack Meridian Health, Montclair, NJ, ⁵UPMC Children`s Hospital of Pittsburgh, Pittsburgh, PA, ⁶Hospital for Special Surgery, New York, NY, ⁷Alberta Children's Hospital, Calgary, AB, Canada, ⁸Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁹John's Hopkins, Baltimore, MD, ¹⁰Autoinflammatory Alliance / Kaisz / ENCA as patient organizations, Amersfoort, Netherlands, ¹¹Boston Children's Hospital, Boston, MA, ¹²Autoinflammatory Alliance, San Francisco, CA
Background/Purpose: The exaggerated inflammatory responses to the SARS-CoV-2 virus and the paucity of data on COVID-19 infection risk in systemic autoinflammatory disease (SAID) patients posed…
Abstract Number: 1632 • ACR Convergence 2021
Clinical Features and Colchicine Response in Patients with Undifferentiated Systemic Autoinflammatory Disease Carrying E148Q vs. Other MEFV Mutations
Bugra Egeli¹, Holly Wobma¹, Mariana Correia Marques², Jonathan Hausmann³ and Fatma Dedeoglu¹, ¹Boston Children's Hospital, Boston, MA, ²UPMC Children`s Hospital of Pittsburgh, Pittsburgh, PA, ³Beth Israel Deaconess Medical Center, Boston, MA
Background/Purpose: Undifferentiated systemic autoinflammatory diseases (uSAID) are diverse syndromes characterized by acute flares of fever and inflammation, which do not meet clinical criteria for known…

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