Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 1129 • ACR Convergence 2024
Machine Learning Algorithms to Predict Colchicine Resistance in Familial Mediterranean Fever
Admir Öztürk¹, Murad Kucur², Lara Yagci¹ and Serdal Ugurlu³, ¹Istanbul University - Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ²Istanbul University-Cerrahpasa, Engineering Faculty, Mechanical Engineering Department, Istanbul, Turkey, ³Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is a monogenic autoinflammatory disease caused by mutations in the MEFV gene. Colchicine is the first-line treatment of FMF. Although…
Abstract Number: 1960 • ACR Convergence 2024
To Biopsy or Not to Biopsy: Imaging Features of Chronic Nonbacterial Osteomyelitis of the Clavicle
Audrea Chen¹, Shema Hameed², Ayesha Hadi², Sevan Hopyan², Gino Somers², Ronald Laxer³ and Jennifer Stimec⁴, ¹The Hospital for Sick Children, Burnaby, BC, Canada, ²The Hospital for Sick Children, University of Toronto, Toronto, Canada, ³SickKids, Toronto, ON, Canada, ⁴Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) of the clavicle can pose a diagnostic challenge as the differential includes malignancy and infection. Biopsy is often required for…
Abstract Number: 2177 • ACR Convergence 2024
CD59 Complement Membrane Regulator Deficiency: 12 Years of Clinical and Molecular Follow-up of 29 Patients
Dror Mevorach, Netanel Karbian, Marian Zeibak and Adi Tabib, Hadassah-University Hospital, Jerusalem, Israel
Background/Purpose: We have described in 2013, homozygous CD59-deficient children that manifest with recurrent peripheral neuropathy resembling Guillain-Barré syndrome (GBS), with hemolytic anemia and recurrent strokes.…
Abstract Number: 0292 • ACR Convergence 2024
Liver Disease Complicating Familial Mediterranean Fever: A Study on 57 Patients from the French Adult JIR Cohort
Marion Delplanque¹, xavier amiot², Dominique Wendum³, françois Rodrigues², Rim bourguiba¹, Benoit Terris⁴, Christophe Duvoux², Pierre Bedossa⁵, Didier lebrec⁵, Philippe Sogni², Lucia parlati², Frederic Charlotte², Vlad Ratziu², stephane mouly⁶, jeremy augustin², julien Calderaro², giovana scoazec², JM Vignaud⁷, JA Seyrig⁸, Gilles Grateau¹, Lea Savey⁹ and Sophie Georgin-lavialle¹⁰, ¹Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, Paris, France, ²APHP, Paris, ³APHP, Paris, France, ⁴Department of pathology, Hôpital Cochin, GHU Paris Centre, AP-HP, Université Paris Cité,, Paris, France, ⁵APHP, clichy, ⁶Department of internal medicine, Centre de Compétence Maladies Rares autoimmunes et inflammatoires, Lariboisière Hospital, Université Paris Cité, Paris, Ile-de-France, France, ⁷CHRU nancy, Nancy, ⁸CH centre bretagne, pontivy, ⁹Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, france, France, ¹⁰Sorbonne Université, Department of internal medicine, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
Background/Purpose: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV gene mutations. FMF patients can experience liver involvement, potentially leading…
Abstract Number: 0879 • ACR Convergence 2024
A Novel, Oral, Allosteric Inhibitor of Tyrosine Kinase 2 (TYK2) Demonstrates In Vitro Potency, Selectivity, and In Vivo Efficacy in Mouse Models of Psoriasis
Razika Hussein¹, Pamela Tsuruda¹, Shahab Mortezaei¹, Nicky Ferdyan¹, Christopher Wegerski², Karthik Srinivasan¹, Gavin Hirst¹ and Neelufar Mozaffarian¹, ¹Atomwise Inc., San Francisco, ²Atomwise Inc., San Francisco, CA
Background/Purpose: Tyrosine kinase 2 (TYK2), a member of the Janus kinase (JAK) family, plays a key role in several inflammatory diseases. Orthosteric, small molecule inhibitors…
Abstract Number: 1132 • ACR Convergence 2024
Guselkumab and Golimumab Combination Induction Therapy in Ulcerative Colitis Results in Early Local Tissue Healing That Is Sustained Through Guselkumab Maintenance Therapy
Dylan Richards¹, Marion Vetter¹, Matthew Germinaro¹, Bram Verstockt², Raja Atreya³, Julián Panés⁴, Bruce E. Sands⁵, Brian G. Feagan⁶, Bradford McRae⁷, Daniel Cua¹, Patrick Branigan¹ and Tom C. Freeman¹, ¹Janssen Research & Development, LLC, Spring House, PA, USA, Spring House, PA, ²Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium, Leuven, Belgium, ³Department of Medicine I, Gastroenterology, Endocrinology and Pneumology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany, Erlangen, Germany, ⁴Hospital Clínic de Barcelona, IDIBAPS, CIBERehd, Barcelona, Spain, Barcelona, Spain, ⁵Icahn School of Medicine at Mount Sinai, New York, NY, USA, New York, NY, ⁶Alimentiv Inc, London, ON, Canada, London, ON, Canada, ⁷Janssen Research & Development, Cambridge, MA, USA, Cambridge, MA
Background/Purpose: Combination induction therapy with guselkumab (GUS), an interleukin (IL)-23p19 subunit antagonist, and golimumab (GOL), a tumor necrosis factor (TNFα) antagonist, induced higher rates of…
Abstract Number: 1979 • ACR Convergence 2024
Safety and Effectiveness of Immune Checkpoint Inhibitor Therapy in Patients with Pre-existing Autoimmune Disease
Siddhartha Goutam¹, Arjun athreya Raghavan², Carrie Ye³, Liam O'Neil⁴ and Jeffrey Graham¹, ¹Max Rady School of Medicine, University of Manitoba, Winnipeg, MB, Canada, ²University of Manitoba Max Rady College of Medicine, Winnipeg, MB, Canada, ³Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada, ⁴University of Manitoba, Winnipeg, MB, Canada
Background/Purpose: Immune checkpoint inhibitors (ICI) have altered the treatment landscape within oncology, with an expanding number of indications. Patients with pre-existing autoimmune disease (PAD) have…
Abstract Number: 2187 • ACR Convergence 2024
Outcomes Following Tonsillectomy in Children with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome
Kalpana Manthiram¹, Ana Ortega-Villa², Sivia Lapidus³, Mary Bowes², Tina Romeo⁴, Kathryn Garguilo⁵, Laura Failla², Hemalatha Srinivasalu⁶, Pamela Mudd⁷, Roberta DeBiasi⁸, Amanda Ombrello⁹, Karyl Barron¹⁰, Daniel Kastner¹¹ and Kathryn Edwards⁵, ¹National Institute of Allergy and Infectious Disease, Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, Bethesda, MD, ³Hackensack University Medical Center, Montclair, NJ, ⁴NIH, Bethesda, MD, ⁵Vanderbilt University School of Medicine, Nashville, TN, ⁶Children's National Hospital, Washington, DC, ⁷Children's National Hospital, Washington, ⁸Children's National Hospital and Research Institute, Washington, DC, ⁹National Institutes of Health, Rockville, MD, ¹⁰NIAID, NIH, Bethesda, MD, ¹¹National Human Genome Research Institute, Bethesda, MD
Background/Purpose: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in children. Tonsillectomy leads to cessation of…
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…
Abstract Number: L03 • ACR Convergence 2023
Efficacy and Safety of Targeted Therapies in VEXAS Syndrome: Retrospective Study from the French VEXAS Group
Jerome Hadjadj¹, Yann Nguyen¹, Dalila Mouloudji¹, Rim Bourguiba¹, Mael Heiblig², Aloui Hassina¹, Valentin Lacombe³, Samuel Ardois⁴, Corrado Campochiaro⁵, Alexandre Maria⁶, Thibault Comont⁷, Estibaliz Lazaro⁸, Francois Lifermann⁹, Guillaume Le Guenno¹⁰, Herve Lobbes¹⁰, Roderau Outh¹¹, Julien Campagne¹², Cyrille Coustal⁶, Alice Garnier¹³, Yvan Jamilloux², Aurore Meyer¹⁴, Noemie Abisror¹⁵, Olivier Kosmider¹, Vincent Jachiet¹, Olivier FAIN¹⁶, Benjamin Terrier¹⁷, Arsene Mekinian¹ and Sophie Georgin-Lavialle¹⁸, ¹APHP, Paris, France, ²Lyon Hospital, Lyon, France, ³Angers Hospital, Angers, France, ⁴Rennes Hospital, Rennes, France, ⁵San Raffaele Scientific Institute, Milan, Italy, ⁶Montpellier Hospital, Montpellier, France, ⁷Oncopole Toulouse, Toulouse, France, ⁸Bordeaux Hospital University, Pessac, France, ⁹Dax Hospital, Dax, France, ¹⁰Clermont Hospital, Clermont Ferrand, France, ¹¹Perpignan Hospital, Perpignan, France, ¹²Hpital Robert Schuman, Metz, France, ¹³Nantes Hospital, Nantes, France, ¹⁴Strasbourg Hospital, Strasbourg, France, ¹⁵Internal Medicine Saint Antoine Hospital, Paris, France, ¹⁶Hopital Saint Antoine APHP, Paris, France, ¹⁷Cochin Hospital, Paris, France, ¹⁸AP-HP, Tenon hospital, Paris, France
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a monogenic disease of adults due to acquired somatic mutations of the UBA1 gene. Patients…
Abstract Number: 0258 • ACR Convergence 2023
Understanding Monogenic Behçet’s Disease Pathophysiology: Impact of Pathogenic Variant L227X Associated with Autoinflammatory A20 Haploinsufficiency on Cellular Survival and Proliferation
Patricia Aires¹, Daniela Pioto¹, Maria Teresa TErreri² and Sandro Perazzio³, ¹Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil, ²UNIFESP, São Paulo, Brazil, ³Universidade de Sao Paulo (Unifesp); Universidade de São Paulo (USP); Fleury Laboratories, São Paulo, Brazil
Background/Purpose: A20, encoded by TNFAIP3, plays a critical role in NF-κB pathway regulation. A20 haploinsufficiency is a monogenic disorder form of Behçet's disease with a…
Abstract Number: 1106 • ACR Convergence 2023
Monosodium Urate and Calcium Pyrophosphate Crystal-induced Inflammation Relies on Cell Volume Regulation and LRRC8/VRAC Channel Activation
Twinu Wilson Chirayath¹, mete kayatekin², Isabelle Rubera³, Nghia Pham⁴, FREDERIC LIOTE⁴, Pascal Richette⁵, Vincent COMPAN⁶, François Rassendren⁷, Christophe Duranton³ and Hang Korng EA⁴, ¹INSERM, Paris, France, ²CNRS-UMR7370, Nice, France, ³CNRS-UMR 7370, Nice, France, ⁴INSERM-BIOSCAR, Paris, France, ⁵Lariboisière Hospital, Paris, France, ⁶CNRS-IGF, Montpellier, France, ⁷CNRS UMR 5203, Montpellier, France
Background/Purpose: Monosodium urate (MSU) and calcium pyrophosphate (CPP) crystals are responsible for interleukin (IL)-1β dependent acute arthritis. The release of mature IL-1β is dependent on…
Abstract Number: 1893 • ACR Convergence 2023
Abnormalities Detected with [18F]-FDG-PET/CT Imaging in VEXAS Syndrome
Albrecht Betrains¹, Vincent Jachiet², Yannick Dieudonne³, Jérémie Dion⁴, Estibaliz Lazaro⁵, Claire De Moreuil⁶, Samuel Ardois⁷, Sylvie Grosleron⁸, Jean-benoit Arlet⁹, Cécile-Audrey Durel¹⁰, Laure Delaval¹¹, Sylvain Audia¹², Cécile Golden¹³, Barbara Nicolas¹³, Vincent Langlois¹⁴, Antoinette Perlat⁷, Frédéric Vandergheynst¹⁵, Thomas Moulinet¹⁶, Maxime Samson¹⁷, Daniel Blockmans¹, Olivier Kosmider¹⁸, Sophie Georgin-Lavialle¹⁹, Arsène Mekinian²⁰ and Benjamin Terrier²¹, ¹Department of General Internal Medicine, University Hospitals Leuven, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium, ²Service de médecine interne et Inflammation-Immunopathology-Biotherapy Department (DMU i3), Sorbonne Université, AP-HP, Hôpital Saint Antoine, Paris, France, ³Department of Clinical Immunology and Internal Medicine, National Reference Centre for Systemic Autoimmune Diseases (CNR RESO), Strasbourg University Hospital, Strasbourg, France, ⁴Internal Medicine Department, Toulouse University Hospital, Toulouse, France, ⁵Bordeaux Hospital University, Pessac, France, ⁶CHU de Brest, Brest, France, ⁷CHU Rennes, Rennes, France, ⁸CH Agen-Nérac, Agen, France, ⁹Hôpital Georges-Pompidou APHP, Paris, France, ¹⁰CHU Lyon, Lyon, France, ¹¹Hôpital Bichat APHP, Paris, France, ¹²Department of Internal Medicine and Clinical Immunology, Dijon-Bourgogne University Hospital, Dijon, France, ¹³CHU Dijon, Dijon, France, ¹⁴Service de Médecine Interne, Hôpital Jacques Monod, Le Havre, France, ¹⁵Université Libre de Bruxelles, Bruxelles, Belgium, ¹⁶Department of Internal Medicine, Centre hospitalier universitaire de Nancy, Nancy, France, ¹⁷Department of Internal Medicine and Clinical Immunology, Dijon University Hospital, Dijon, France, ¹⁸Hôpital Cochin APHP, Paris, France, ¹⁹AP-HP, Tenon hospital, Paris, France, ²⁰Department of Internal Medicine, Hôpital Saint-Antoine, AP-HP, Paris, France, ²¹Department of Internal Medicine, Hôpital Cochin, AP-HP, Paris, France
Background/Purpose: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is anautoinflammatory syndrome caused by somatic mosaicism in the UBA1 gene. [18F]-FDG-PET/CT is often performed during…
Abstract Number: 2059 • ACR Convergence 2023
Management of Iatrogenic, Recombinant Interleukin-1 Receptor Antagonist-type Amyloidosis on NOMID in Patients on Anakinra
Sara Alehashemi¹, Anvitha Metpally², Surendra Dasari³, Kat Uss², Londa Hathaway⁴, Douglas B. Kuhns⁵, Danielle Fink⁵, Chyi-Chia Richard Lee⁶, Leslie A Castelo-Soccio⁴, Edward W. Cowen⁴, Samih H. Nasr⁷, Ellen McPhail⁷ and Raphaela Goldbach-Mansky⁸, ¹NIH/NIAID/TADS, Clarksville, MD, ²NIAID, NIH, Bethesda, MD, ³Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, ⁴NIAMS, NIH, Bethesda, MD, ⁵Frederick National Laboratory for Cancer Research, Bethesda, MD, ⁶NCI, NIH, Bethesda, MD, ⁷Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, ⁸NIH/NIAID, Potomac, MD
Background/Purpose: Patients with Neonatal-Onset Multisystem Inflammatory Disease (NOMID) often require long-term high-dose treatment with anakinra at 5-8 mg/kg daily subcutaneous injections to control CNS inflammation…
Abstract Number: 0259 • ACR Convergence 2023
Preliminary Experience with a Novel “Fix” for Deep Epitope and Transcriptional Phenotyping of Fragile Cells from Autoinflammatory Flares
Hallie Carol¹, Emily Landy² and Scott Canna¹, ¹Children's Hospital of Philadelphia, Philadelphia, PA, ²University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Autoinflammatory diseases (AID) are characterized by inflammation and immunopathology due to primary defects in the innate immune response. Neutrophils (PMN) feature prominently in the…

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