Abstracts tagged "Autoinflammatory diseases"

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…
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…

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