ACR Meeting Abstracts

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Abstracts tagged "Autoinflammatory diseases"

  • Abstract Number: 1817 • ACR Convergence 2023

    Geographic Variability of Inflammatory Bowel Disease Related Mortality, 1999-2019; CDC WONDER

    Saleha Aziz1, Anum Akhlaq1, Sana Gurz2 and Yousaf Zafar1, 1University of Mississippi Medical Center, Jackson, MS, 2University of Nevada, Las Vegas, NV

    Background/Purpose: The United States makes a significant contribution to Inflammatory Bowel Disease (IBD) related disease burden worldwide. However, data on geographic variability of IBD related…
  • Abstract Number: 2058 • ACR Convergence 2023

    IL-1 Blocking Treatment Slows the Progression of Sensorineural Hearing Loss in Patients with NOMID

    Sara Alehashemi1, Ana M. Ortega-Villa2, Megha Garg3, Katherine Myint-Hpu4, Kim Johnson5, FARZANA BHUYAN6, Kelly King7, Chris Zalewski7, Danielle Fink8, Douglas B. Kuhns8, John Butman9, Carmen Brewer7, H. Jeffrey Kim7, Dean Follmann2 and Raphaela Goldbach-Mansky10, 1NIH/NIAID/TADS, Clarksville, MD, 2Biostatistics Research Branch, Division of Clinical Research, NIH, Bethesda, MD, 3Rochester Regional Health, Pittsford, NY, 4NIAID, NIH, Bethesda, MD, 5NIH, NIAID, Bethesda, MD, 6National Institutes of Health, Bethesda, MD, 7National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, 8Frederick National Laboratory for Cancer Research, Bethesda, MD, 9Clinical Center, NIH, Bethesda, MD, 10NIH/NIAID, Potomac, MD

    Background/Purpose: NOMID is a severe form of cryopyrin-associated periodic syndrome characterized by systemic inflammation and CNS manifestations, including sensorineural hearing loss. IL-1 blocking agents, Anakinra…
  • Abstract Number: 077 • 2023 Pediatric Rheumatology Symposium

    Clinical Characteristics of Chronic Recurrent Multifocal Osteomyelitis or Chronic Nonbacterial Osteomyelitis in Pediatrics; Single Center Study in Korea

    Minji Kim1, Jieun Jeong1, Jiwon Jung2, Seong Heon Kim1 and Seon Hee Lim3, 1Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Republic of Korea, 2Asan Medical Center Children's Hospital, Seoul, Republic of Korea, 3Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan, Republic of Korea

    Background/Purpose: CRMO is an autoinflammatory bone disease which has a recurrent bone pain as a symptom. It causes problems in various organs, including joints, skin,…
  • Abstract Number: 078 • 2023 Pediatric Rheumatology Symposium

    Periodic Fever Syndrome and Myelodysplastic Syndrome: Possible Connections Between Two Disorders

    Ivanna Romankevych1, Nicole Torres2, Imani Sanders1, Laurent King1 and Pedro Garcia Rodriguez1, 1Jackson Health System, University of Miami Miller School of Medicine, Miami, FL, 2University of Miami Miller School of Medicine, Miami, FL

    Background/Purpose: Background: associations between autoimmune, immunodeficiency and hematological disorders are well known as well as with autoinflammatory conditions. Modern genetic testing allows to link these…
  • Abstract Number: 121 • 2023 Pediatric Rheumatology Symposium

    The Effectiveness of Tonsillectomy in Periodic Fever, Aphthous Ulcer, Pharyngitis, and Adenitis Syndrome in Pediatric Patients

    John Storwick1 and Marinka Twilt2, 1Alberta Children's Hospital/University of Calgary, Calgary, AB, Canada, 2Alberta Children's Hospital, Calgary, AB, Canada

    Background/Purpose: Periodic Fevers with Aphthous Ulcers, Pharyngitis, and Adenitis Syndrome (PFAPA Syndrome) is the most common pediatric periodic fever syndrome. The most recent diagnostic criteria…
  • Abstract Number: 127 • 2023 Pediatric Rheumatology Symposium

    What’s in a Name? A20 Protein Expression in an in Vitro Model of A20 Haploinsufficiency

    Patricia Pontes Aires1, DANIELA GERENT PETRY PIOTTO1, Andre Cunha1, Sandro Perazzio2 and Maria Teresa Terreri3, 1Universidade Federal de São Paulo, São Paulo, Brazil, 2Universidade de So Paulo; Fleury Laboratories, São Paulo, Brazil, 3UNIFESP, São Paulo, Brazil

    Background/Purpose: Tumor necrosis factor alpha (TNF-alpha) induced protein 3 gene, or TNFAIP3, encodes the A20 protein, an important regulator of the NF-κB pathway. Since its…
  • Abstract Number: 032 • 2023 Pediatric Rheumatology Symposium

    From Bedside to Bench and Back: Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes with Hearing Loss as the Primary Presentation, Responsive to Anti-IL1 Therapy

    Merav Birk-Bachar1, Hadar Cohen2, Yoel Levinsky3, rotem tal4, Gil Amarilyo5, Meirav Sokolov6, Efrat Sofrin-Drucker7, Naama Orenstein7, Gabriel Lidzbarsky7, Liora Kornreich8, Eyal Raveh6, Nesya Kropach-Gilad7, Motti Gerlic2 and Liora Harel9, 1Pediatric Rheumatology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, 2Sackler Faculty of Medicine, Immunology Department, Tel Aviv University, Tel Aviv, Israel, 3Schneider Children's Medical Center of Israel, Tel Aviv University, Petach Tikva, Israel, 4Schneider Children's Medical Center of Israel, Petach Tikva, Israel, 5Schneider Children's Medical Center of Israel, Petach Tikva, Israel, 6Pediatric Ear Nose and Throat Unit Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, 7Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel, 8Pediatric Imaging Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, 9Scheiders Children Medical Center of Israel, Petah-Tiqva, Israel

    Background/Purpose: Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of rare autoinflammatory diseases caused by gain-of-function mutations inthe NLRP3 gene. These mutations cause inflammasome hyperactivity and…
  • Abstract Number: 036 • 2023 Pediatric Rheumatology Symposium

    Predictive Factors of Long-lasting Remission Following Anakinra Withdrawal in Patients with Systemic Juvenile Idiopathic Arthritis After Achievement of Clinical Inactive Disease

    Germana Nardini1, Claudia Bracaglia2, Denise Pires Marafon1, Emanuela Sacco3, Arianna De Matteis1, Ivan Caiello1, Giusi Prencipe1, Fabrizio De Benedetti2 and Manuela Pardeo2, 1Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesu', Roma, Italy, 2Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy, 3Fondazione Casa Sollievo della Sofferenza, Pediatria, San Giovanni Rotondo, Italy

    Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a rare autoinflammatory disease of unknown etiology. Several uncontrolled studies showed that early treatment with anakinra is associated…
  • Abstract Number: 044 • 2023 Pediatric Rheumatology Symposium

    Validation of Newly Proposed Classification Criteria for Pediatric Chronic Nonbacterial Osteomyelitis: A Virginia Cohort

    Kelley Lee1, Ashley Kim2 and Aarat Patel3, 1University of Richmond, Richmond, VA, 2University of Virginia, Charlottesville, VA, 3Bon Secours Mercy Health / University of Virginia, GLEN ALLEN, VA

    Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an aseptic autoinflammatory bone disease of unknown etiology. This diagnosis can be delayed due to the non-specific nature of…
  • Abstract Number: 059 • 2023 Pediatric Rheumatology Symposium

    Update of Clinical and Laboratory Features of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease (SJIA-LD) Cohort

    Esraa Eloseily1, Min-Lee Chang2, Mary Ellen Riordan3, allan Russell4, Marc Natter2, Yukiko Kimura5 and Grant Schulert1, 1Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2Boston Children's Hospital, Boston, MA, 3Hackensack Meridian Health/ Joseph M. Sanzari Children's Hospital, Hackensack, NJ, 4Duke Clinical Research Institute, Durham, NC, 5Hackensack Meridian School of Medicine, Hackensack, NJ

    Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) associated lung disease (SJIA-LD) is an emerging and life-threatening clinical problem. Despite recent advances, there remain key unanswered questions…
  • Abstract Number: 068 • 2023 Pediatric Rheumatology Symposium

    Outcomes of Children with Uveitis Associated with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV)

    Ilaria Maccora1, Arjun Sood2, Grant Schulert3, Megan Quilan-Water3, Alexandra Duell3, Jennifer Huggins3, Tiffany Nguyen2, Cameron Sapp2, Sumit Sharma4, Srivastaval Sunil4 and Sheila Angeles-Han5, 1IRCCS Meyer Children’s Hospital, Rheumatology Unit, Florence, Italy, 2Cincinnati Eye Institute, Cincinnati, OH, 3Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 4Cole Eye Institute, Cleveland Clinic, Cleveland, OH, 5Cincinnati Children's Hospital, Cincinnati, OH

    Background/Purpose: Pediatric uveitis is commonly associated with rheumatic disease and can lead to sight-threatening complications if not properly treated. Systemic immunomodulatory therapy has dramatically changed…
  • Abstract Number: 0010 • ACR Convergence 2022

    The Inflammation Induced by Monosodium Urate and Calcium Pyrophosphate Crystals Depends on Osmolarity and Aquaporin Channels

    Twinu wilson Chirayath1, Nghia Pham1, Christophe Duranton2, Isabelle Rubera2, Alan Gauffenic1, Martine Cohen-Solal1, Augustin Latourte3, Thomas Bardin4, Pascal Richette5, FREDERIC LIOTE1 and Hang-Korng Ea6, 1INSERM, PARIS, France, 2CNRS-UMR 7370, Nice, France, 3Université de Paris, Paris, France, 4Hôpital Lariboisiere, Paris, France, 5Department of Rheumatology, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Paris, France, 6Lariboisière Hospital, Paris, France

    Background/Purpose: The inflammation induced by monosodium urate (MSU) and calcium pyrophosphate (CPP) crystals is driven by interleukin (IL)-1β production. This later relies on NLRP3 inflammasome…
  • Abstract Number: 0567 • ACR Convergence 2022

    Gain-of-Function Mutations in Lyn Kinase Cause a Novel Autoinflammatory Disease with Small Vessel Vasculitis and Liver Fibrosis

    Adriana Almeida de Jesus1, Guibin Chen2, Dan Yang2, Tomas Brdicka3, Natasha Ruth4, David Bennin5, Dita Cebecauerova6, Hana Malcova7, Helen Freeman8, Neil Martin9, Karel Svojgr6, Murray Passo4, Farzana Bhuyan10, Sara Alehashemi11, Andre Rastegar12, Kat Uss12, Lela Kardova12, Iris Duric3, Ebun Omoyinmi13, Petra Peldova6, Chyi-Chia Richard Lee14, David Kleiner14, Colleen Hadigan15, Stephen Hewitt14, Stefania Pittaluga14, Carmelo Carmona-Rivera16, Katherine R. Calvo15, Nirali Shah14, Miroslava Balascakova6, Danielle Fink17, Radana Kotalova6, Zuzana Parackova6, Lucie Peterkova6, Daniela Kuzilkova6, Vit Campr6, Lucie Sramkova6, Stephen Brooks16, Eric Meffre18, Rebecca Harper2, Hyesun Kuehn15, Mariana Kaplan16, Paul Brogan19, Sergio Rosenzweig15, Zuoming Deng16, Anna Huttenlocher5, Susan Moir12, Douglas Kuhns17, Manfred Boehm2, Karolina Skvarova Kramarzova20 and Raphaela Goldbach-Mansky21, 1NIAID, NIH, Silver Spring, MD, 2National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, 3Laboratory of Leukocyte Signaling, Institute of Molecular Genetics of the Academy of Sciences of Czech Republic (ASCR), Prague, Czech Republic, 4Medical University of South Carolina, Charleston, SC, 5Departments of Pediatrics and Medical Microbiology and Immunology, University of Wisconsin-Madison, Madison, WI, 6Second Faculty of Medicine, Charles University/University Hospital Motol, Prague, Czech Republic, 7Second Faculty of Medicine, Charles University/University Hospital Motol, Praha, Czech Republic, 8Raigmore Hospital, Inverness, Scotland, United Kingdom, 9Royal Hospital for Children, Glasgow, Scotland, United Kingdom, 10National Institutes of Health, Bethesda, MD, 11NIH/NIAID/TADS, Clarksville, MD, 12National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 13Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom, 14National Cancer Institute, National Institutes of Health, Bethesda, MD, 15Clinical Center, National Institutes of Health, Bethesda, MD, 16National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 17National Institute of Allergy and Infectious Diseases, National Institutes of Health, Frederick, MD, 18Yale University, New Haven, CT, 19UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, 20Second Faculty of Medicine, Charles University/University Hospital Motol, Prague, 21NIH/NIAID, Potomac, MD

    Background/Purpose: Lyn kinase is a member of the Src family of tyrosine kinases that regulates innate and adaptive immune responses. Lyn C-terminal tail tyrosine residue,…
  • Abstract Number: 1240 • ACR Convergence 2022

    A Systematic Review and Meta-Analysis of Diagnostic Test Accuracy for the Diagnosis of Cardiac Sarcoidosis

    Omar Abialmouna1, Mohamad Kalot2, Mohamad Hamade3, Ronak Bahuva2, Ariba Hasmi2, Aamir Ahmed2, Zachary Brumberger2, Jordan Troy2, Ali Choaib4, Ronak Bharucha2, Ross Moyer2, Karin Provost2, Brian Page2 and Umesh Sharma2, 1University at Buffalo, North Tonawanda, NY, 2University at Buffalo, Buffalo, NY, 3University of Miami, Miami, FL, 4Lebanese American University, Beirut, Lebanon

    Background/Purpose: Autopsy reports for patients with sarcoidosis have suggested that up to 25% have cardiac involvement, mostly undiagnosed. Given the limited diagnostic accuracy of endomyocardial…
  • Abstract Number: 1931 • ACR Convergence 2022

    NOD2 Mutations Are Associated with Upregulated Type 1 Interferon Gene Expression and Development of Granulomatous Hepatitis in Children with Autoimmune Hepatitis

    Esraa Eloseily1, Alexander Valencia2, Astha Malik2, Rebekah Karns2, Cyd Castro Rojas2, Mosab Alquraish2, Rebecca Marsh3, Alexei Grom4 and Alexander Miethke2, 1Division of Pediatric Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2Division of Gastroenterology, Hepatology & Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 3Division of Bone Marrow Transplantation & Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 4Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Mutations in the gene NOD2 encoding the nucleotide-binding oligomerization domain-containing protein 2 (NOD2) which controls innate responses to LPS have been linked to Blau…
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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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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. Academic institutions, private organizations and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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