Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 121 • 2023 Pediatric Rheumatology Symposium
The Effectiveness of Tonsillectomy in Periodic Fever, Aphthous Ulcer, Pharyngitis, and Adenitis Syndrome in Pediatric Patients
John Storwick¹ and Marinka Twilt², ¹Alberta Children's Hospital/University of Calgary, Calgary, AB, Canada, ²Alberta Children's Hospital, Calgary, AB, Canada
Background/Purpose: Periodic Fevers with Aphthous Ulcers, Pharyngitis, and Adenitis Syndrome (PFAPA Syndrome) is the most common pediatric periodic fever syndrome. The most recent diagnostic criteria…
Abstract Number: 127 • 2023 Pediatric Rheumatology Symposium
What’s in a Name? A20 Protein Expression in an in Vitro Model of A20 Haploinsufficiency
Patricia Pontes Aires¹, DANIELA GERENT PETRY PIOTTO¹, Andre Cunha¹, Sandro Perazzio² and Maria Teresa Terreri³, ¹Universidade Federal de São Paulo, São Paulo, Brazil, ²Universidade de So Paulo; Fleury Laboratories, São Paulo, Brazil, ³UNIFESP, São Paulo, Brazil
Background/Purpose: Tumor necrosis factor alpha (TNF-alpha) induced protein 3 gene, or TNFAIP3, encodes the A20 protein, an important regulator of the NF-κB pathway. Since its…
Abstract Number: 0139 • ACR Convergence 2022
A Clinical Study Designed to Support a Demonstration of Interchangeability Between AVT02 and Reference Adalimumab (Humira®)
Steven Feldman¹, Heimo stroissnig², Richard Kay³, Joanna Sobierska⁴, Roshan Dias⁴, Eric Guenzi⁵, Hendrik Otto², Halimuniyazi Haliduola², Abid Sattar⁶, Ruth Ruffieux⁴, Matjaz Steijger⁴ and Fausto Berti⁴, ¹Wake Forest School of Medicine, Winston-Salem, NC, ²Alvotech, Jülich, Germany, ³RK Statistics, Bakewell, United Kingdom, ⁴Alvotech, Zürich, Switzerland, ⁵UGA Biopharma, Bonn, Germany, ⁶Alvotech, London, United Kingdom
Background/Purpose: To support a demonstration of interchangeability of proposed biosimilar AVT02 and Humira® (reference adalimumab).Methods: Participants with chronic plaque psoriasis were selected for the study…
Abstract Number: 0815 • ACR Convergence 2022
Hyper-IgG4 in Patients with Systemic Autoinflammatory Disease
Brianne Navetta-Modrov and QingPing Yao, Stony Brook University, Stony Brook, NY
Background/Purpose: Hyper-immunoglobulin G4 (IgG4) has been reported in various conditions including autoimmune disease, gastrointestinal disorders, lymphoproliferative/granulomatous diseases and solid tumors. IgG4-related disease is an immune-mediated…
Abstract Number: 1741 • ACR Convergence 2022
Mutated Nod2 Controls T Cell Function and Promotes Uveitis in a Blau Syndrome Mouse Model
Leah Huey¹, Kylie Koney¹, Emily Vance¹, Chia-Feng Tsai², Rosalie K. Chu², Marina A. Gritsenko², Ellen Lee¹, Holly Rosenzweig¹ and Ruth Napier¹, ¹Oregon Health & Science University and VA Portland Health Care System, Portland, OR, ²Biological Sciences Division, Pacific Northwest National Laboratory, Richland, WA
Background/Purpose: Mutations in the microbial signaling molecule NOD2 cause granulomatous uveitis, arthritis, and dermatitis in Blau Syndrome. We previously showed a novel role for Nod2…
Abstract Number: 2221 • ACR Convergence 2022
The Molecular Endotypes of Type 1 and Type 2 SLE
Robert Robl¹, Amanda Eudy², Prathyusha Bachali³, Jennifer L Rogers⁴, Megan Clowse⁵, David Pisetsky⁶ and Peter lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²Duke University, Raleigh, NC, ³AMPEL BioSolutions, Redmond, WA, ⁴Duke University School of Medicine, Division of Rheumatology & Immunology, Durham, NC, ⁵Duke University, Durham, NC, ⁶Duke University Medical Center, Durham, NC
Background/Purpose: To characterize the molecular landscape of patients with Type 1 and Type 2 systemic SLE erythematosus (SLE) by analyzing gene expression profiles from peripheral…
Abstract Number: 0142 • ACR Convergence 2022
A Systemic Autoinflammatory Syndrome Caused by NEMO Exon 5 Skipping
Bin Lin¹, Adriana Almeida de Jesus², Eric Karlins¹, Dana Kahle¹, Sophia Park³, Andre Rastegar¹, Jacob Mitchell⁴, sofia Torregiani¹, Farzana Bhuyan⁵, Sara Alehashemi⁶, Kader Cetin Gedik⁷, Kat Uss⁸, Eric Hanson⁹, Amer Khojah¹⁰, Eveline Wu¹¹, Christiaan Scott¹², Timothy Ronan Leahy¹³, Emma J. MacDermott¹³, Orla G. Killeen¹³, Chyi-Chia Richard Lee¹⁴, Thaschawee Arkachaisri¹⁵, Zoran Gucev¹⁶, Kathryn Cook¹⁷, Vafa Mammadova¹⁸, Gulnara Nasrullayeva¹⁸, Mariana Correia Marques¹⁹, Abigail Bosk²⁰, Seza Ozen²¹, Abigail Lang²², Brian Nolan²³, Scott Canna²⁴, Maude Tusseau²⁵, Emilie Chopin²⁵, Guilaine Boursier²⁶, Danielle Fink²⁷, Douglas Kuhns²⁷, Clifton Dalgard²⁸, Alexandre Belot²⁹, Timothy Moran³⁰, Andrew Oler³ and Raphaela Goldbach-Mansky³¹, ¹NIH, Bethesda, MD, ²NIAID, NIH, Silver Spring, MD, ³NIAID, Bethesda, MD, ⁴NIAID NIH, Bethesda, MD, ⁵National Institutes of Health, Bethesda, MD, ⁶NIH/NIAID/TADS, Clarksville, MD, ⁷Translational Autoinflammatory Diseases Section (TADS)/NIAID/NIH, Bethesda, MD, ⁸National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ⁹Indiana University School of Medicine, Indianapolis, IN, ¹⁰Umm Al-Qura University, Makkah, Saudi Arabia, ¹¹University of North Carolina, Chapel Hill, NC, ¹²University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa, ¹³CHI at Crumlin, Dublin, Ireland, ¹⁴National Cancer Institute, National Institutes of Health, Bethesda, MD, ¹⁵KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, ¹⁶University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁷Akron Children's Hospital, Akron, OH, ¹⁸Azerbaijan Medical University, Baku, Azerbaijan, ¹⁹National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD, ²⁰Children's National Hospital, Washington, DC, ²¹Hacettepe University Faculty of Medicine, Ankara, Turkey, ²²Lurie Children's Hospital, Chicago, IL, ²³Ann & Robert H. Lurie Children's Hospital, Chicago, IL, ²⁴Children's Hospital of Philadelphia, Philadelphia, PA, ²⁵Service de Néphrologie, Rhumatologie, Dermatologie Pédiatriques, Centre de Référence des Rhumatismes Inflammatoires et Maladies Auto-Immunes Rares de l'Enfant (RAISE), Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Bron, France, ²⁶Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CEREMAIA, CHU de Montpellier, Univ Montpellier, Montpellier, France, ²⁷National Institute of Allergy and Infectious Diseases, National Institutes of Health, Frederick, MD, ²⁸The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD, ²⁹Hospices Civils de Lyon, Collonges au mont d'or, France, ³⁰University of North Carolina School of Medicine, Chapel Hill, NC, ³¹NIH/NIAID, Potomac, MD
Background/Purpose: NF-kB essential modulator (NEMO, encoded by IKBKG) is an essential gene in immune response, development, and cell death regulation. Mutations in NEMO have been…
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,…

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