Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0316 • ACR Convergence 2024
Development and Evaluation of the Adult-onset Still’s Disease Activity Index Based on Whole RNA-seq Analysis: A Novel Approach Independent of Tocilizumab Treatment
Mayu Magi¹, Hiroto Yoshida¹, Hiroya Tamai², Kotaro Matsumoto², Keiko Yoshimoto², Yoshihiro Matsumoto¹, Tetsuhiro Soeda¹ and Yuko Kaneko², ¹Chugai Pharmaceutical Co., Ltd., Kanagawa, Japan, ²Keio University School of Medicine, Tokyo, Japan
Background/Purpose: Tocilizumab (TCZ), an anti-IL-6 receptor antibody, has been shown to be effective in the treatment of adult-onset Still's disease (AOSD), a systemic inflammatory disease.…
Abstract Number: 0925 • ACR Convergence 2024
Macrophages Produce Bone Anabolic Factors in Settings of Inflammation-Induced Bone Formation
Jia (Sijia) Chen¹, Megan Hanlon², Catherine Manning³, Susan MacLauchlan¹, Paul Hoover⁴, Christian Jacome-Galarza⁵ and Ellen Gravallese⁶, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women’s Hospital, Boston, MA, ³Brigham and Women's Hospital, Dedham, MA, ⁴Brigham and Women's Hospital, SWAMPSCOTT, MA, ⁵Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁶Brigham and Women's Hospital, Harvard Medical School, Chestnut Hill, MA
Background/Purpose: Understanding the pathogenesis of inflammation-induced pathologic bone formation remains a significant challenge in spondyloarthritis patients. We thought to uncover the pivotal events driving the…
Abstract Number: 1706 • ACR Convergence 2024
Multi-omic Study in Patients with SITRAME Syndrome
Yixiang Yves-Jean Zhu¹, Angèle Soria², Thomas Moreau³, Guilaine Boursier⁴, Vincent Bondet⁵, Françoise Donnadieu⁶, Clara Cretet⁷, Aness Haddouche⁷, Carine Schmidt³, Diego Bletry³, Emmanuelle Amsler², Annick Barbaud², Farah Rahal⁵, Yannick Chantran⁸, Margaux Cescato³, François Maillet⁹, Anne-Sophie Korganow¹⁰, Benjamin Chaigne¹¹, Yannick Dieudonné¹⁰, Guillaume Lefevre¹², Makoto Miyara⁷, Vivien Beziat¹³, Caroline Deswarte¹³, Michael White⁶, Sophie Georgin-lavialle¹, Darragh duffy⁵ and Mathieu Paul Rodero³, ¹Sorbonne Université, Department of internal medicine, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France, ²Sorbonne Université, Department of dermatology and allergology, Tenon hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France, ³Université Paris CIté, Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques, Faculté des Saint-Pères, Paris, France, ⁴University of Montpellier, Montpellier, ⁵Translational Immunology Unit, Institut Pasteur, Université Paris-Cité, Paris, France, Paris, France, ⁶Pasteur Institut, Laboratoire d'épidémiologie et analyse des maladies infectieuses, Paris, France, ⁷Sobonne University, Centre d'Immunologie et des Maladies Infectieuses, Paris, France, ⁸Departmen of Biological Immunology, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France, ⁹AP HP, Paris, France, ¹⁰University of Strasbourg, Department of Clinical Immunology and Internal Medicine, Nouvel Hôpital Civil, Strasbourg, France, ¹¹Service de Médecine Interne, Centre de Référence Maladies Systémiques Autoimmunes et Autoinflammatoires Rares d'Ile de France de l’Est et de l’Ouest, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, Ile-de-France, France, ¹²CHU Lille, Institut d’Immunologie, Lille, France., Lille, France, ¹³IMAGINE Institut, Human Genetics of Infectious Diseases Laboratory, Paris, France
Background/Purpose: The SITRAME syndrome (Systemic Inflammatory Trunk Recurrent Acute Macular Eruption) is a newly described inflammatory entity affecting adult patients with no family history (Soria…
Abstract Number: 2032 • ACR Convergence 2024
A Systematic Review of Treatment Strategies in VEXAS Syndrome
Aviraag Vijaya Prakash¹, Jose Garcia², Anurag Goel³, Vinit Gilvaz⁴ and Raveena Midha⁵, ¹Saint Vincent Hospital, Department of Internal Medicine, Worcester, MA, ²Brown University, East Greenwich, RI, ³The Warren Alpert Medical School of Brown University, Providence, RI, ⁴The Warren Alpert Medical School of Brown University, East Providence, RI, ⁵Kent Hospital/Brown University, Warwick, RI
Background/Purpose: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, first described in 2020, is an autoinflammatory condition characterized by somatic mutations in the UBA1 gene.…
Abstract Number: 2569 • ACR Convergence 2024
A Novel Hyperferritinemia Screen to Aid Differentiation of Hyperinflammatory Disorders
Hallie Carol¹, Adam Mayer², Jemy Varghese³, Zachary Martinez⁴, Caroline Diorio⁴, Paul Tsoukas⁵, Kate Kernan⁶ and Scott Canna⁷, ¹Children's Hospital of Philadelphia, Philadelphia, ²University of Pennsylvania/Children's Hospital of Philadelphia, Philadelphia, PA, ³Division of Pediatric Rheumatology, The Children’s Hospital of Philadelphia, Philadelphia, PA, ⁴Division of Pediatric Oncology, The Children’s Hospital of Philadelphia, Philadelphia, PA, ⁵Hospital for Sick Children/University of Toronto, Toronto, ON, Canada, ⁶Department of Critical Care Medicine, University of Pittsburgh School of Medicine, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, ⁷Children's Hospital of Philadelphia, Philadelphia, PA
Background/Purpose: High ferritin is an important and sensitive biomarker for the diverse and deadly group of cytokine storm syndromes grouped together under the term hemophagocytic…
Abstract Number: 0387 • ACR Convergence 2024
Absolute Agreement and Inter-rater Reliability of a Web-based Standardized Scoring Tool for Magnetic Resonance Images from Children with Chronic Nonbacterial Osteomyelitis (CNO) Amongst Radiologists
Farzana Nuruzzaman¹, T. Shawn Sato², Jennifer Stimec³, Ramesh S. Iyer⁴, Andrew Carbert⁵, Joel Paschke⁵, Lauren Potts⁶, Xiaoyue Zhang⁷, Walter Maksymowych⁸, Polly Ferguson⁹ and Yongdong (Dan) Zhao¹⁰, and CARRA CRMO Workgroup, ¹Stony Brook Children's Hospital, Stony Brook, NY, ²University of Iowa, Iowa City, ³Hospital for Sick Children, Toronto, ON, Canada, ⁴Seattle Children's Hospital, Seattle, WA, ⁵CARE Arthritis, Edmonton, AB, Canada, ⁶Artist, Long Beach, CA, ⁷Renaissance School of Medicine at Stony Brook University, Stony Brook, NY, ⁸University of Alberta, Edmonton, AB, Canada, ⁹University of Iowa Carver College of Medicine, Iowa City, IA, ¹⁰University of Washington, Redmond, WA
Background/Purpose: The web-based ChRonic nonbacterial Osteomyelitis Magnetic Resonance Imaging Scoring (CROMRIS) portal was developed to assess specific features of bone and soft tissue inflammation in…
Abstract Number: 0927 • ACR Convergence 2024
Synovial Macrophage Heterogeneity and Dynamics in Steady Stateand Rheumatoid Arthritis Mouse Model Time Course
Jessica Maciuch¹, Yidan Wang², Tyler Therron³, Harris Perlman¹ and Deborah Winter⁴, ¹Northwestern University, Chicago, IL, ²Northwestern University, Hanover Park, IL, ³Northwestern University, Chicago, ⁴Northwestern University, Skokie, IL
Background/Purpose: Macrophages are vital contributors to both pro-inflammatory signaling and tissue repair processes involved in the pathogenesis and remission of Rheumatoid Arthritis (RA). Recent research…
Abstract Number: 1740 • ACR Convergence 2024
Performance of Large Language Models in Rheumatology Board-Like Questions: Accuracy, Quality, and Safety
Jaime Flores Gouyonnet¹, Mariana Gonzalez-Trevino¹, Cynthia Crowson¹, Ryan Lennon¹, Alain Sanchez-Rodriguez², Gabriel Figueroa-Parra³, Elena Joerns⁴, Bradly Kimbrough⁵, Maria Cuellar-Gutierrez¹, Erika Navarro-Mendoza¹ and Ali Duarte-Garcia¹, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic College of Medicine and Science, Rochester, MN, ³Division of Rheumatology, University Hospital "Dr. Jose Eleuterio Gonzalez", Universidad Autonoma de Nuevo Leon, Monterrey, Mexico, ⁴Mayo Clinic, Rochester, ⁵Mayo Clinic Rochester, Rochester, MN
Background/Purpose: Large language models (LLMs) are increasingly becoming a common source of information for clinicians. We aimed to evaluate the accuracy, quality, and safety of…
Abstract Number: 2039 • ACR Convergence 2024
Canakinumab Treatment in Patients with Familial Mediterranean Fever: A Tertiary Center Experience
Ozkan Berke Simsek¹, Ali Ayla² and Serdal Ugurlu³, ¹Istanbul University-Cerrahpasa, Istanbul, ²UTHealth Houston Division of Rheumatology, Houston, TX, ³Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Canakinumab is one of the most commonly used second-line agents in familial Mediterranean fever (FMF) after treatment failure or discontinuation of colchicine treatment. The…
Abstract Number: 2627 • ACR Convergence 2024
Development and Validation of a Novel Score System to Guide Diagnostic Procedures in Children with Concerns of Chronic Nonbacterial Osteomyelitis
Rajdeep Pooni¹, Sarah Menashe², Melissa Oliver³, Anja Schnabel⁴, Eveline Wu⁵, Zhaoyi Wang⁶, Claire Yang⁷, Achille Marino⁸, Cassyanne Aguiar⁹, Johnathan Akikusa¹⁰, Ummusen Kaya Akca¹¹, Beverly Almeida¹², Simone Appenzeller¹³, Ozge Basaran¹⁴, Matthew Basiaga¹⁵, David Cabral¹⁶, Martina Capponi¹⁷, nathan Donaldson¹⁸, Bugra Egeli¹⁹, Emily Fox²⁰, Antonella insalaco²¹, Ramesh Iyer²², Annette Jansson²³, Inna Kostik²⁴, Mikhail Kostik²⁵, Leonard Kovalick²⁶, Katia Kozu²⁷, Sivia Lapidus²⁸, Tzielan Lee²⁹, Aleksander Lenert³⁰, Kamran Mahmood³¹, Edoardo Marrani³², Doaa Mosa³³, Alexander Mushkin³⁴, Farzana Nuruzzaman³⁵, Karen Onel³⁶, Manuela Pardeo²¹, Trang Pham²², Lauren Potts³⁷, Athimalaipet Ramanan³⁸, Angelo Ravelli³⁹, Nathan Rogers¹⁸, Ian Muse⁴⁰, Micol Romano⁴¹, natalie Roseenwasser²², T. Shawn Sato⁴², Gabriele Simonini⁴³, jennifer Soep¹⁸, Sara Stern⁴⁴, Alexander Theos⁴⁵, Lori Tucker⁴⁶, Leslie Vogel², Shima Yasin³⁰, Katerina Bouchalova⁴⁷, Alison Hendry⁴⁸, Kevin Cain⁴⁹, Hermann Girschick⁵⁰, Fatma Dedeoglu¹⁹, Christian Hedrich⁵¹, Ronald Laxer⁵², Polly Ferguson³⁰, Seza Ozen⁵³ and Yongdong Zhao⁵⁴, ¹Stanford University, Berkeley, CA, ²Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, ³Riley Hospital for Children, Indiana University School of Medicine, Indianopolis, IN, ⁴Pediatric Rheumatology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany, ⁵University of North Carolina School of Medicine, Chapel Hill, NC, ⁶University of Washington School of Medicine, Seattle, Seattle, WA, ⁷Seattle Children's Hospital, Seattle, ⁸ASST Gaetano Pini-CTO, Milan, Italy, Milan, Italy, ⁹Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA, ¹⁰Royal Children's Hospital, Melbourne, Australia, ¹¹Hacettepe University, Division of Pediatric Rheumatology, Department of Pediatrics, Faculty of Medicine, Ankara, Turkey, ¹²Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom, ¹³Unicamp, Campinas, SP, Brazil, ¹⁴Hacettepe University, Ankara, Turkey, ¹⁵Mayo Clinic, Rochester, MN, ¹⁶BC Children's Hospital and University of British Columbia, Vancouver, BC, Canada, ¹⁷Sapienza University, Rome, Italy, ¹⁸University of Colorado School of Medicine, Aurora, CO, ¹⁹Boston Children's Hospital, Boston, MA, ²⁰Children's Mercy Hospital, Kansas City, MO, ²¹IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ²²University of Washington School of Medicine, Seattle, WA, ²³Dr. von Hauner Children´s Hospital, Munich, Germany, ²⁴Sanatorium for children Detskie Dyuny, Saint-Petersburg, Russia, ²⁵Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia, ²⁶The University of North Carolina at Chapel Hill, Chapel Hill, NC, ²⁷Instituto da Criança e do Adolescente, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil, ²⁸Hackensack University Medical Center, Montclair, NJ, ²⁹Stanford University School of Medicine, Palo Alto, CA, ³⁰Carver College of Medicine, University of Iowa Hospitals & Clinics, Iowa City, IA, ³¹Alder Hey Children's Hospital, Liverpool, United Kingdom, ³²ERN ReCONNET center, Meyer Children's Hospital-IRCCS, Firenze, Italy, ³³Mansoura University Hospital, Mansoura City, Egypt, ³⁴Science-Research Institute of Phthisiopulmonology, Saint-Petersburg, Russia, ³⁵Renaissance School of Medicine at Stony Brook University, Stony Brook, NY, ³⁶HSS, New York, NY, ³⁷Patient Research Partner, Long Beach, CA, ³⁸Bristol Royal Hosp for Children, Bristol, United Kingdom, ³⁹IRCCS Giannina Gaslini, Genoa, Italy, ⁴⁰Seattle Children's Research institute, Seattle, WA, ⁴¹Behcet and Autoinflammatory Disease Center, Western University, London, ON, Canada, ⁴²University of Iowa, Iowa City, ⁴³Meyer Children Hospital IRCCS; NEUROFARBA Department, University of Florence, Florence, Italy, ⁴⁴University of Utah, Salt Lake City, UT, ⁴⁵Patient/parent partner, Washington DC, DC, ⁴⁶BC Children's Hospital, Vancouver, BC, Canada, ⁴⁷Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital, Olomouc, Czech Republic,⁴⁸Division of Medicine Middlemore Hospital Counties Manukau District Health, Auckland, New Zealand, ⁴⁹University of Washington, Seattle, WA, ⁵⁰Vivantes Clinic Friedrichshain, Berlin, Germany, ⁵¹University of Liverpool, Liverpool, United Kingdom, ⁵²SickKids, Toronto, ON, Canada, ⁵³Department of Pediatrics, Hacettepe University, Ankara, Turkey, ⁵⁴Seattle Children's Research institute, Seattle, WA
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disease. The diagnosis of CNO is made by recognizing typical clinical and imaging presentation and excluding…
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…

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