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Abstracts tagged "Autoinflammatory diseases"

  • Abstract Number: 0398 • ACR Convergence 2024

    Validation of Patient-Reported Outcomes Measurement Information System® (PROMIS®) Pediatric Measures for Children with Chronic Nonbacterial Osteomyelitis Using the CHOIR Data

    Mary Eckert1, Eveline Wu2, Melissa Oliver3, Joshua Scheck4, Sivia Lapidus5, Ummusen Kaya Akca6, Shima Yasin7, Aleksander Lenert8, Sara Stern9, Antonella insalaco10, Manuela Pardeo10, Gabriele Simonini11, Edoardo Marrani12, Xing Wang13, Bin Huang14, Leonard Kovalick15, Natalie Rosenwasser16, Erin Balay-Dustrude17, Gabriel Casselman16, Liau Adriel18, Ava Klein18, Yurong Shao4, Claire Yang4, Molly Briggs4, Emily Deng4, Iris Hamilton4, Ethan Mueller16, Elise Machrone4, Paige Trunnel4, Doaa Mosa19, Lori Tucker20, Hermann Girschick21, Ronald Laxer22, Georgina Tiller23, Jonathan Akikusa24, Christian Hedrich25, Karen Onel26, Fatma Dedeoglu27, Marinka Twilt28, Seza Ozen29, Polly Ferguson30, Laura Schanberg31, Bryce Reeve32 and Yongdong (Dan) Zhao33, 1Seattle Children's, Mercer Island, WA, 2University of North Carolina School of Medicine, Chapel Hill, NC, 3Indiana University, Indianapolis, IN, 4Seattle Children's Hospital, Seattle, 5Hackensack University Medical Center, Montclair, NJ, 6Hacettepe University, Division of Pediatric Rheumatology, Department of Pediatrics, Faculty of Medicine, Ankara, Turkey, 7University of Iowa Carver College of Medicine, Abu Dhabi, United Arab Emirates, 8University of Iowa, Iowa City, IA, 9University of Utah, Salt Lake City, UT, 10IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, 11Meyer Children Hospital IRCCS; NEUROFARBA Department, University of Florence, Florence, Italy, 12University of Florence, Firenze, Florence, Italy, 13Biostatistics Epidemiology and Analytics in Research, Seattle Children’s Research Institute, Seattle, WA, 14Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cinciannati, OH, 15UNC Health Care, Durham, NC, 16Seattle Children's Hospital, Seattle, WA, 17University of Washington, Seattle, WA, 18Seattle Children’s Research Institute, University of Washington, Seattle, 19Mansoura University Hospital, Mansoura City, Egypt, 20BC Children's Hospital, Vancouver, BC, Canada, 21Vivantes Clinic Friedrichshain, Wuerzburg, Germany, 22SickKids, Toronto, ON, Canada, 23University of British Columbia - Vancouver, Vancouver, BC, Canada, 24Royal Children's Hospital, Parkville, Victoria, Australia, 25University of Liverpool, Liverpool, United Kingdom, 26HSS, New York, NY, 27Boston Children's Hospital, Boston, MA, 28Alberta Children's Hospital, Calgary, AB, Canada, 29Department of Pediatrics, Hacettepe University, Ankara, Turkey, 30University of Iowa Carver College of Medicine, Iowa City, IA, 31Duke University Medical Center, DURHAM, NC, 32Duke University School of Medicine, Durham, 33University of Washington, Redmond, WA

    Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disease. It is critical to capture the child’s health-related quality of life impact using validated patient-reported…
  • Abstract Number: 0934 • ACR Convergence 2024

    Screening NLRP3 Drug Candidates in Clinical Development:Lessons from Existing and Emerging Technologies

    Isak Tengesdal1, Carlo Marchetti1, Tim L.Th. Jansen2, Marc Y. Donath3, Naomi Schlesinger4 and Charles Dinarello1, 1University of Colorado, Denver, CO, 21VieCuri Medisch Centrum, Venlo, Netherlands, 3University of Basel, Basel, Switzerland, 4University of Utah, Salt Lake City, UT

    Background/Purpose: NLRP3 is emerging as an attractive upstream target of the pathway to down-modulate rather than to completely neutralize IL-1ß levels in both acute and…
  • Abstract Number: 1766 • ACR Convergence 2024

    STAT2-Associated Type I Interferonopathy: A Masquerade of Infectious Susceptibility

    Conor Gruber1, Angelica Lee2, Sofija Buta2, Marta Martin Fernandez2, Veronique Houdouin3, Jean-Laurent Casanova4, Alice Hadchouel5, Jacinta Bustamante5 and Dusan Bogunovic2, 1Mount Sinai Hospital, New York, NY, 2Columbia University, New York, NY, 3Robert Debré Hospital, Paris, France, 4Rockefeller University, New York, NY, 5Hôpital Necker-Enfants Malades, Paris, France

    Background/Purpose: Type I IFN (IFN-I) signaling is a potent inflammatory pathway fundamental to antiviral immunity. In humans, loss of IFN-I activity underlies severe viral disease,…
  • Abstract Number: 2040 • ACR Convergence 2024

    Effective Management of Idiopathic Recurrent Pericarditis with Anakinra in Clinical Practice

    Martin Michaud1, Laurent Sailler2, Mélanie LEMEU3, Brice CASTEL4, Fabienne Vacheret5, Laurent Prudhomme6 and Grégory Pugnet7, 1Clinique Saint Exupery, Toulouse, France, 2CHU Toulouse, Toulouse, France, 3CH Albi, Albi, France, 4CH TARBES, Tarbes, France, 5CH Perpignan, Perpignan, France, 6CH Castres, Castres, France, 7Toulouse Rangueil University Hospital, Toulouse, France

    Background/Purpose: Idiopathic recurrent pericarditis (IRP) is a rare autoinflammatory syndrome marked by recurrent pericardial inflammation after an initial episode of acute pericarditis. Standard treatment involves…
  • Abstract Number: 2651 • ACR Convergence 2024

    Vasculitis Associated with VEXAS Syndrome

    Megan Sullivan1, Kambiz Kalantari2, Carolyn Mead-Harvey3, Yael Kusne4, Mrinal Patnaik2, Abhishek Mangaonkar2, Ronald Go2, Daniel Montes2, Kaaren Reichard2, Horatiu Olteanu2, Melanie Bois2, Alexander Hines2, Julio Sartori-Valinotti5, Kenneth Warrington2 and Matthew Koster2, 1Mayo Clinic Arizona, Scottsdale, AZ, 2Mayo Clinic, Rochester, MN, 3Mayo Clinic, Scottsdale, AZ, 4Mayo Clinic, Phoenix, AZ, 5Mayo Clinic, Rohester, MN

    Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently defined clinical entity that causes hematologic and autoinflammatory symptoms. Since its initial description…
  • 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…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

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