Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0400 • ACR Convergence 2024
Osteoclastogenesis from Peripheral Blood Mononuclear Cells in Children with Chronic Nonbacterial Osteomyelitis Are Similar to Those from Healthy Children
Jacqueline Bui¹, Jacob Curry², Jessica Kent³, Payton Danosky⁴, Kellen Sanders⁴, Sriya Paluvayi⁴, Wendy Garcia⁴, Alejandra Ruppe⁴, Megan Cheung⁴, Anna Saack⁴, Xinrui Bao⁴, Audrey Luey⁴, Michelle Kim⁴, Emily McDaniel⁴, Amanda Chiu⁴, Sophia Ahn⁵, Ji-Won Park⁴, Sudheshna Thirunahari⁴, Cammie Wei⁴, Liau Adriel⁵, Sophia Pham⁴, Sadie Van Den Bogaerde⁴, Joshua Scheck⁴, Ian Muse⁶, Ava Klein⁵, Xing Wang⁷, James Cassat⁸ and Yongdong Zhao⁶, ¹Seattle Children’s Research Institute, University of Washington, Bellevue, WA, ²Seattle Children’s Research Institute, Vanderbilt University Medical Center, Seattle, WA, ³Seattle Children’s Research Institute, Medical College of Wisconsin, Seattle, WA, ⁴Seattle Children’s Research Institute, University of Washington, Seattle, WA, ⁵Seattle Children’s Research Institute, University of Washington, Seattle, ⁶Seattle Children's Research institute, Seattle, WA, ⁷Biostatistics Epidemiology and Analytics in Research, Seattle Children’s Research Institute, Seattle, WA, ⁸Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disease in which osteoclastogenesis may play a critical role. Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) was shown…
Abstract Number: 0999 • ACR Convergence 2024
Clinical and Biological Features of VEXAS Syndrome in Women: Study of 9 French Cases Compared with 263 Men
Rim Bourguiba¹, Valentin Lacombe², Vincent Jachiet³, Thibault Comont⁴, Joris Galland⁵, Mael Heiblig⁶, Alexandre Nguyen⁷, Achille Aouba⁸, Xavier Boulu⁹, Alexandre Curie¹⁰, Pierre Sujobert¹¹, Pierre Hirsch¹², Olivier Kosmider¹³, Arsene Mekinian¹⁴ and Sophie Georgin-lavialle¹⁵, and French VEXAS study group, ¹Hopital des Forces de sécurité de l'interieur, La Marsa, Tunisia, ²Angers University Hospital, Angers, France, ³Service de Médecine intene, Hopital Saint-Antoine, Paris France, Paris, France, ⁴4 Service de médecine interne, Hopital Toulouse, France, Toulouse, France, ⁵Service de médecine interne, Centre hospitalier de Bourg- En-Bresse, France, Bourg en Bresse, France, ⁶Service de médecine interne, Centre Hospitalier Lyon Sud, Lyon, France, ⁷Service de médecine interne, CHU Cean, France, Cean, France, ⁸Service d'immunologie clinique-médecine interne, CHU de Caen Normandie, Caen, France, ⁹8 Service de médecine interne, CHU Amiens Picardie, France, Amiens, France, ¹⁰Service de médecine interne, CH Eure Seine, France, Eure seine, France, ¹¹Service d'hématologie, Centre Hospitalier Lyon Sud, France, Lyon, Tunisia, ¹²Hopital Saint-Antoine, Paris, France, Paris, France, ¹³Hematology Laboratory, Assistance Publique-Hôpitaux de Paris, Centre-Université de Paris Cité, Cochin Hospital, Paris, France, Paris, France, ¹⁴Saint Antoine University Hospital, Paris, France, ¹⁵Sorbonne Université, Department of internal medicine, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
Background/Purpose: VEXAS syndrome is an autoinflammatory disease associated with somatic mutations in the UBA1 gene, which is located on the X chromosome, which explains the…
Abstract Number: 1773 • ACR Convergence 2024
Divergent Genetic Architecture in Boys and Girls with NEMO-deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) Implies Role for Wildtype Effector Cells
Adriana Almeida de Jesus¹, Kip Friend², Bin Lin³, Eric Karlins⁴, Colton McNinch⁴, Sara Alehashemi⁵, Keith Kauffman⁶, FARZANA BHUYAN³, Taylor Newbolt⁶, Andrea Bohrer⁷, Andre Rastegar³, Sophia Park³, Dana Kahle³, Jacob Mitchell³, Amanda Chen³, Sofia Torreggiani⁸, Kader Cetin Gedik⁹, Katsiaryna Uss², Amer Khojah¹⁰, Eveline Wu¹¹, Christiaan Scott¹², Timothy Ronan Leahy¹³, Emma MacDermott¹⁴, Orla Killeen¹⁵, Thaschawee Arkachaisri¹⁶, Brian Nolan¹⁷, Zoran Gucev¹⁸, Kathryn Cook¹⁹, Vafa Mammadova²⁰, Gulnara Nasrullayeva²⁰, Mariana Correia Marques²¹, Abigail Bosk²², Seza Ozen²³, Scott Canna²⁴, Maude Tusseau²⁵, Emilie Chopin²⁶, Guilaine Boursier²⁷, Veronique Hentgen²⁸, Ines Elhani²⁹, Mario Sestan³⁰, Marija Jelusic³¹, Danielle Fink³², Douglas Kuhns³², Clifton Dalgard³³, Alexandre Belot³⁴, Timothy Moran¹¹, Katherine Meyer-Barber⁷, Andrew Oler⁴, Daniel Barber⁶ and Raphaela Goldbach-Mansky³⁵, ¹NIAID, NIH, Silver Spring, MD, ²Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Bethesda, MD, ³TADS, NIAID, NIH, Bethesda, MD, ⁴BCBB, NIAID, NIH, Bethesda, MD, ⁵NIH/NIAID/TADS, Potomac, MD, ⁶T Lymphocyte Biology Section, LPD, NIAID, NIH, Bethesda, MD, ⁷Inflammation and Innate Immunity Unit, LCIM, NIAID, NIH, Bethesda, MD, ⁸University Of Maryland Baltimore, Baltimore, MD, ⁹Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Pittsburgh, PA, ¹⁰Umm Al-Qura University, Makkah, Saudi Arabia, ¹¹University of North Carolina School of Medicine, Chapel Hill, NC, ¹²University of Cape Town, Cape Town, South Africa, ¹³Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland, ¹⁴CHI Crumlin, Dublin, Dublin, Ireland, ¹⁵Children's Health Ireland, Dublin, Ireland, ¹⁶KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, ¹⁷Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, ¹⁸University Children's Hospital, Skopje, Macedonia, ¹⁹Akron Children's Hospital, Akron, OH, ²⁰Azerbaijan Medical University, Baku, Azerbaijan, ²¹National Institutes of Health, Bethesda, MD, ²²Children's National Hospital, Bethesda, DC, ²³Department of Pediatrics, Hacettepe University, Ankara, Turkey, ²⁴Children's Hospital of Philadelphia, Philadelphia, PA, ²⁵RAISE, Hospices Civils de Lyon, Lyon, France, ²⁶Hospices Civils de Lyon, Lyon, France, ²⁷University of Montpellier, Montpellier, ²⁸Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CEREMAIA, CHU de Montpellier, Univ Montpellier, Montpellier, France, Le Chesnay, France, ²⁹Department of Internal Medicine, Caen University Hospital, Caen, France, Caen, France, ³⁰University of Zagreb School of Medicine University Hospital Centre Zagreb, Zagreb, Croatia, ³¹University of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Zagreb, Croatia, ³²Collaborative Clinical Research Branch, NIAID, NIH, Bethesda, MD, Bethesda, MD, ³³The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, ³⁴Hospices Civils de Lyon, Collonges au mont d'or, France, ³⁵Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Potomac, MD
Background/Purpose: Splice-site variants in X-linked IKBKG cause NEMO-deleted exon5 autoinflammatory syndrome (NEMO-NDAS); a pseudogene (IKBKGP1) complicates genetic diagnosis. NEMO-NDAS is four times more common in…
Abstract Number: 2044 • ACR Convergence 2024
Clinical Practice Patterns, Rilonacept Appropriate Use for Recurrent Pericarditis
Jessica Farrell¹, Michael Allen², Lee Shapiro³, Victoria Michaels⁴, Arifa Javed⁵, Nabiha Qureshi⁶, Summia Matin Afridi⁷, Shahad Almahmoud⁸, Getzabeth Bosques Gomez⁹ and Khoa Richard Ngo¹⁰, ¹Albany College of Pharmacy & Health Sciences/Albany Medical Center, Delmar, NY, ²Albany Medical Center, Delmar, NY, ³Albany Medical College, Stillwater, NY, ⁴Albany Medical Center, Wynantskill, NY, ⁵Albany Medical Center, Rensselaer, NY, ⁶Albany Medical Center, Menands, NY, ⁷Albany Medical Center, Albany, NY, ⁸Albany College of Pharmacy & Health Sciences/Albany Medical Center, Albany, NY, ⁹Albany College of Pharmacy and Health Sciences/Albany Medical Center, Albany, NY, ¹⁰Albany Medical Center, Voorheesville, NY
Background/Purpose: Pericarditis is inflammation of the pericardial sac which can be of infectious or non-infectious etiology, commonly associated with rheumatic diseases. Pericarditis is defined as…
Abstract Number: 2659 • ACR Convergence 2024
A Comprehensive Approach Utilizing a Combination of Genetics, Cytological Analysis, and Imaging Techniques to Speed up the Diagnostic Process in VEXAS Patients
Sara Bindoli¹, Chiara Baggio², Roberto Padoan³, Riccardo Bixio⁴, doria Andrea⁵, Roberta Ramonda² and Paolo Sfriso¹, ¹Rheumatology Unit, University of Padova, Italy, Padova, Veneto, Italy, ²Rheumatology Unit, University of Padova, Italy, Padova, Italy, ³Department of Medicine DIMED, Division of Rheumatology, University of Padua, Padua, Italy, ⁴University of Verona, Verona, Verona, Italy, ⁵University of Padova, Padova, Italy
Background/Purpose: VEXAS is a newly described “haemato-autoinflammatory” condition resulting from somatic mutations in the UBA-1 gene. By integrating genetics, cytology and imaging, this work seeks…
Abstract Number: 0006 • ACR Convergence 2024
NX-5948, a Clinical-Stage BTK Degrader, Achieves Deep Suppression of BCR, TLR, and FcR Signaling in Immune Cells and Demonstrates Efficacy in Preclinical Models of Arthritis and Other Inflammatory Diseases
Mark Noviski¹, Jun Ma¹, Nivetha Brathaban¹, Aishwarya Kumar¹, Dhwani Haria¹, Jenny McKinnell¹, Robert Cass¹, Frederick Cohen¹, Davorka Messmer², Gwenn Hansen¹ and Ryan Rountree¹, ¹Nurix Therapeutics, San Francisco, CA, ²Nurix Therapeutics, San Diego, CA
Background/Purpose: Bruton’s tyrosine kinase (BTK) mediates signaling downstream of the B cell receptor (BCR), toll-like receptors (TLRs), and Fc receptors (FcRs). This makes BTK an…
Abstract Number: 0408 • ACR Convergence 2024
Analysis of Protein Biomarkers for the Prediction of IL-1 Inhibitor Treatment Response in the CARRA First-line Options for Systemic Juvenile Idiopathic Arthritis Treatment (FROST) Study
Michael Matt¹, Mariana Correia Marques², Sabrina Fuehner³, Lexi Auld¹, George Tomlinson⁴, Michael Ombrello⁵, Yukiko Kimura⁶, Christoph Kessel⁷ and grant schulert¹, and the CARRA FROST Investigators, ¹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²National Institutes of Health, Bethesda, MD, ³Universitaetsklinikum Muenster, Muenster, Germany, ⁴University of Toronto, Toronto, ON, Canada, ⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ⁶Hackensack Meridian School of Medicine, New York, NY, ⁷University Hospital Muenster, Muenster, Germany
Background/Purpose: IL-1 inhibitors are both widely used and highly effective as first-line therapy for children with systemic juvenile idiopathic arthritis (sJIA); however, the mechanisms underlying…
Abstract Number: 1062 • ACR Convergence 2024
Assessing Musculoskeletal Symptom Burden in a Cohort of Patients with Hidradenitis Suppurativa Using the IDEOM MSK-Q
Gretchen Ball¹, Hassan Hamade², Sarah Romanelli², Zachary Levy², Lourdes Perez Chada³, Joseph Merola⁴ and Alice Gottlieb⁵, ¹Albert Einstein College of Medicine, Ridgefield, CT, ²Icahn School of Medicine at Mount Sinai, New York, NY, ³Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ⁴UT Southwestern Medical Center, Newton, MA, ⁵Icahn School of Medicine at Mount Sinai, Department of Dermatology, Seattle, WA
Background/Purpose: Hidradenitis suppurativa (HS) has been associated with inflammatory joint diseases such as psoriatic arthritis and ankylosing spondylitis. Despite this correlation, dermatologists do not routinely…
Abstract Number: 1778 • ACR Convergence 2024
A Novel Variant in IRAK2 Results in Immune Dysregulation in Systemic Juvenile Idiopathic Arthritis (sJIA)
Mariana Correia Marques¹, Brooke Boyd², Alana Platukus³, Elizabeth Schmitz², Hiroto Nakano², Faiza Naz⁴, Anthony Cruz¹, Stefania Dell'Orso⁴, Zuoming deng⁴ and Michael Ombrello⁵, ¹National Institutes of Health, Bethesda, MD, ²Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, Bethesda, MD, ³1Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, Bethesda, MD, ⁴National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD
Background/Purpose: Lung disease (LD) is poorly understood complication of Still’s disease with high fatality. HLA-DRB1*15 is a strong risk factor for the development of this…
Abstract Number: 2046 • ACR Convergence 2024
Duration of Disease and Long-term Outcomes in Patients with Difficult-to-treat Recurrent Pericarditis: A Chronic Condition Treated with NSAIDs, Colchicine, Corticosteroids, and Anti-IL-1 Agents
Antonio Brucato¹, Elisa Ceriani², Francesco Agozzino³, Silvia Berra⁴, Antonio Gidaro², Silvia Macchi⁵, Letizia Vena⁵, Paolo Bindi⁵, Alberto Pavarani⁶, Francesco Moda⁷, Ludovico Luca Sicignano⁸, Celeste Murace⁸, Elena Verrecchia⁸, Caterina Chiara Decarlini⁹, Silvia Maestroni¹⁰, Gabriella Marinaro⁴, Lucia Trotta³, Massimo Pancrazi³, Lisa Serati³, Enrica Negro³, Claudia Gabiati³, Elisa Calabrò³, Angela Mauro¹¹, Luisa Carrozzo³, Emanuele Bizzi³ and Massimo Imazio¹², ¹Department of Biomedical and Clinical Sciences, University of Milano, Department of Internal Medicine, Ospedale Fatebeneratelli, Milano, Milano, Lombardia, Italy, ²Department of Internal Medicine, Ospedale Luigi Sacco, Milano, Milan, Italy, ³Department of Internal Medicine, Ospedale Fatebeneratelli, Milano, Milan, Italy, ⁴Department of Internal Medicine, Ospedale Fatebeneratelli, Milano, Milano, Italy, ⁵University of Milano, Milan, Italy, ⁶University of Milano, Milan, ⁷Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy, ⁸Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Rome, Italy, ⁹Cardiology Division, Cardiovascular Department, San L. Mandic Hospital, Merate, Lecco, Italy, ¹⁰Internal Medicine Department, Papa Giovanni XXIII Hospital, Bergamo, Bergamo, Italy, ¹¹Pediatric Rheumatology Unit, Department of Childhood and Developmental Medicine, Fatebenefratelli-Sacco Hospital, Milan, Italy, ¹²University of Udine, and Cardiothoracic Department, University Hospital Santa Maria della Misericordia, Udine, Milan, Italy
Background/Purpose: Recurrent pericarditis (RP) challenges pts and clinicians in terms of long-term management. Objective of this study was to evaluate the remission rate (drug-free for…
Abstract Number: 2660 • ACR Convergence 2024
Developing Predictive Models for the Diagnosis of VEXAS Syndrome
Daniel Montes¹, Andrew C. Hanson², Hannah Langenfeld¹, Cynthia Crowson¹, Mrinal Patnaik¹, Ronald Go¹, Alexander Hines¹, Kambiz Kalantari¹, Yael Kusne³, Terra Lasho², Abhishek Mangaonkar¹, Horatiu Olteanu¹, Kaaren Reichard¹, Megan Sullivan⁴, David Viswanatha¹, Kenneth Warrington¹ and Matthew Koster¹, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic, Rochester, ³Mayo Clinic, Phoenix, AZ, ⁴Mayo Clinic Arizona, Scottsdale, AZ
Background/Purpose: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently identified autoinflammatory disorder with a heterogenous presentation. Patients may experience delays in diagnosis…
Abstract Number: 0072 • ACR Convergence 2024
The Association Between Activation of Inflammasome and HLA-B27 in Dendritic Cells of Patients with Axial Spondyloarthritis
Jina Yeo¹, Min-Gang Kim², Hye Eun Lee³, Yeonsoo Yang², Mi Ryoung Seo¹, Hyo-Jin Choi¹, Eun Young Lee⁴, Dae Ho Lee³ and Han Joo Baek⁵, ¹Division of Rheumatology, Department of Internal Medicine, Gil Medical Center, Gachon University College of Medicine, Incheon, Republic of Korea, ²Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea, ³Division of Endocrinology, Department of Internal Medicine, Gil Medical Center, Gachon University College of Medicine, Incheon, Republic of Korea, ⁴3Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea, ⁵Division of Rheumatology, Department of Internal Medicine, Gil Medical Center, Gachon University College of Medicine, Inchon, South Africa
Background/Purpose: Axial spondyloarthritis (axSpA) exhibits a predominant involvement of the innate immune system, marked by abnormal functions of innate immune cell such as dendritic cells…
Abstract Number: 0414 • ACR Convergence 2024
Relationship Between Culture Negative Infectious Osteomyelitis and Chronic Nonbacterial Osteomyelitis
Andrew Grim¹, Yongdong (Dan) Zhao², Christine Wang¹, Erin Janssen³, Jessica Turnier⁴, Anastasia Hyrhorczuk¹ and Nadine Saad¹, ¹University of Michigan, Ann Arbor, MI, ²University of Washington, Redmond, WA, ³CS Mott Children's Hospital, Ann Arbor, MI, ⁴University of Michigan, Saline, MI
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is a rare autoinflammatory bone disorder. Some patients with CNO may present acutely and be misdiagnosed as infectious osteomyelitis (IO).…
Abstract Number: 1112 • ACR Convergence 2024
Pleuroparenchymal Fibroelastosis Associated with Connective Tissue Diseases (PPFE-CTD)
Maximiliano Diaz Menindez¹, Alejandro Diaz Arumir Vergara², Vivian Shing², carolyn mead harvey³, Ana Zamora Martinez² and Vivek Nagaraja⁴, ¹Mayo Clinic School of Graduate Medical Education, Phoenix, AZ, ²Mayo Clinic, Phoenix, ³Mayo Clinic Florida, Jacksonville, FL, ⁴Mayo Clinic Arizona, Scottsdale, AZ
Background/Purpose: Pleuroparenchymal Fibroelastosis (PPFE) is a rare idiopathic interstitial pneumonia characterized by fibrosis of the visceral pleura and subpleural parenchyma, predominantly affecting the upper lobes.…
Abstract Number: 1788 • ACR Convergence 2024
Memory B Cell Activation and Dysregulation in Systemic Lupus Erythematosus
Shady Younis¹, Salvinaz Moutusy², Shaghayegh Jahanbani², Xiaohao Wu², Marlayna Harris², Mahesh Pandit³, Laura van Dam⁴, orr Sharpe⁵, Paul Utz¹ and William Robinson⁶, ¹Stanford University, Stanford, CA, ²Stanford University School of Medicine, Stanford, ³Stanford University School of Medicine, Stanofrd, ⁴Stanford, Palo Alto, CA, ⁵Department of Immunology and Rheumatology, Stanford University, Stanford, CA, ⁶Division of Immunology and Rheumatology, Stanford University, and VA Palo Alto Health Care System, Stanford, CA
Background/Purpose: B cell dysregulation and production of autoantibodies against autoantigens are hallmarks of Systemic lupus erythematosus (SLE). In healthy adults (HC), B cells with autoreactive…

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