Abstracts tagged "Periodic Disease"

Abstract Number: 2667 • ACR Convergence 2025
Amyloidosis Secondary to Familial Mediterranean Fever: Machine Learning Based Prediction Models
Berkay Aktas¹, Enes Azman¹, Yusuf Ecren Oner², kadir Kaya², husnu Mert Yuksel³, Ali Hosgel², Dilan Karahan², Zehra Beyza Coban², Kerem parlar⁴, Ozgur Can Kilinc¹, Beste Acar¹ and serdal Ugurlu⁵, ¹Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey, ²Istanbul University-Cerrahpasa, Istanbul, Turkey, Istanbul, Turkey, ³Istanbul University-Cerrahpasa, Istanbul, Turkey, Istanbul, Istanbul, Turkey, ⁴Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, İstanbul, Turkey, ⁵Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is a monogenic autoinflammatory disease caused by MEFV mutations. Amyloidosis remains its most serious complication, with several risk factors reported…
Abstract Number: 2129 • ACR Convergence 2025
Distinct endotypes of SURF associated with clinical phenotypes, inflammatory cytokines, and treatment responses
Marci Macaraeg¹, Nadine Saad², Tiphanie Vogel³, Fatma Dedeoglu⁴, Kyle McBrearty⁴, Qin Sun⁵, Chunyan Liu⁵ and Grant Schulert⁵, ¹University of Arizona College of Medicine, Tucson, AZ, ²University of Michigan, Ann Arbor, MI, ³Baylor College of Medicine, Houston, TX, ⁴Boston Children's Hospital, Boston, MA, ⁵Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Syndrome of Undifferentiated Recurrent Fevers (SURF) refers to patients with recurrent fevers who do not meet clinical or classification criteria for Periodic Fevers, Aphthous…
Abstract Number: 2046 • ACR Convergence 2025
Utilization of the All of Us Research Program to Study the Impact of Genetic Background on Autoinflammatory Diseases
Song Wu¹, Zuoming Deng², Peter Gorevic¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
Background/Purpose: A widely recognized model of disease pathogenesis is the potential interplay of gene x gene x environment. Low penetrance variants in the NOD-like receptor…
Abstract Number: 0779 • ACR Convergence 2025
Interim Results of a Randomized Placebo Controlled Study of IL-1 Inhibitor Goflikicept in Patients With Familial Mediterranean Fever
Olga Uhanova¹, serdal Ugurlu², Mikhail Kostik³, Tamara Sarkisyan⁴, Anna Yeghiazaryan⁴, Lidiya Lysenko⁵, Vilen Rameev⁵, Omer Karadag⁶, Valentina Vardanyan⁷, Veli Yazisiz⁸, Tatiana Sotnikova⁹, Vyacheslav Podsvirov¹, Alina Egorova¹⁰, Daria Bukhanova¹⁰, Sergey Grishin¹⁰, Tolga Tuncel¹¹, Mikhail Samsonov¹⁰ and Ahmet Gul¹², ¹Terafarm LLC, Stavropol, Russia, ²Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ³Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia, ⁴Center of Medical Genetics and Primary Health Care LTD, Yerevan, Armenia, ⁵Sechenov’s ¹st State Moscow Medical University, Moscow, Russia, ⁶Division of Rheumatology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey, ⁷Ecosense Diagnostic Center, Yerevan, Armenia, ⁸Akdeniz University, Faculty of Medicine, Antalya, Turkey, ⁹State Budgetary Institution of Healthcare of Moscow Multispeciality Hospital named after S.P. Botkin of the Moscow City and Sechenov University, Moscow, Russia, ¹⁰R-Pharm JSC, Moscow, Russia, ¹¹TRpharm, Istanbul, Turkey, ¹²Istanbul University, Istanbul Faculty of Medicine, Division of Rheumatology, Istanbul, Istanbul, Turkey
Background/Purpose: Goflikicept (GFC; RPH-104) is a novel fusion protein inhibiting interleukin-1 (IL-1). This study aimed to investigate its efficacy and safety in IL-1β-driven monogenic autoinflammatory…
Abstract Number: 0715 • ACR Convergence 2024
Diffuse Alveolar Hemorrhage in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Revisited
Samuel Falde¹, Elif Ediboglu¹, Misbah Baqir¹, Rodrigo Cartin-Ceba², Fernando C. Fervenza¹, Ladan Zand¹, Matthew Koster¹, Kenneth Warrington¹ and Ulrich Specks¹, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic, Scottsdale, AZ
Background/Purpose: We sought to characterize the most recent cohort of patients presenting with DAH and AAV and to identify risk factors for respiratory failure and…
Abstract Number: 2187 • ACR Convergence 2024
Outcomes Following Tonsillectomy in Children with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome
Kalpana Manthiram¹, Ana Ortega-Villa², Sivia Lapidus³, Mary Bowes², Tina Romeo⁴, Kathryn Garguilo⁵, Laura Failla², Hemalatha Srinivasalu⁶, Pamela Mudd⁷, Roberta DeBiasi⁸, Amanda Ombrello⁹, Karyl Barron¹⁰, Daniel Kastner¹¹ and Kathryn Edwards⁵, ¹National Institute of Allergy and Infectious Disease, Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, Bethesda, MD, ³Hackensack University Medical Center, Montclair, NJ, ⁴NIH, Bethesda, MD, ⁵Vanderbilt University School of Medicine, Nashville, TN, ⁶Children's National Hospital, Washington, DC, ⁷Children's National Hospital, Washington, ⁸Children's National Hospital and Research Institute, Washington, DC, ⁹National Institutes of Health, Rockville, MD, ¹⁰NIAID, NIH, Bethesda, MD, ¹¹National Human Genome Research Institute, Bethesda, MD
Background/Purpose: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in children. Tonsillectomy leads to cessation of…
Abstract Number: 2202 • ACR Convergence 2024
Evolving Phenotypic and Genotypic Spectrum of Human ISG15 and USP18 Deficiencies
Alhanouf Alsaleem¹, Wafaa Abdulghaffar², Lujain Akbar³, Meshal Alhassan⁴, Fatimah Alkhars⁵ and Sulaiman Al-Mayouf⁶, ¹KFSH&RC, Riyadh, Saudi Arabia, ²KFSHRC, RIYADH, RIYADH, ³RIYADH, RIYADH, Saudi Arabia, ⁴Imam Abdulrahman Bin Faisal University, DAMMAM, ⁵Maternity and children hospital, ALHASSA, ⁶KFSHRRC, Riyadh, Saudi Arabia
Background/Purpose: Loss of negative regulator in ISG15 and USP18 results in recently described immunodysregulatory disorders with diversity of clinical characteristics related to enhanced IFN-a/b immunity.…
Abstract Number: 0275 • ACR Convergence 2023
No Cumulative Effect of Infection Rates in Children Receiving Long-term Canakinumab Treatment in Autoinflammatory Periodic Fever Syndromes − Data from the RELIANCE Registry
Jasmin B. Kuemmerle-Deschner¹, Joerg Henes², Birgit Kortus-Goetze³, Prasad T. Oommen⁴, Anne Pankow⁵, Tilmann Kallinich⁶, Tobias Krickau⁷, Catharina Schuetz⁸, Gerd Horneff⁹, Ivan Foeldvari¹⁰, Juergen Rech¹¹, Frank Weller-Heinemann¹², Ales Janda¹³, Markus Hufnagel¹⁴, Florian M. Meier¹⁵, Frank Dressler¹⁶, Michael Borte¹⁷, Ioana Andreica¹⁸, Peter Wasiliew¹⁹, Michael Fiene²⁰, Daniel Windschall²¹, Martin Krusche²², Tania Kuempfel²³, Julia Weber-Arden²⁴ and Norbert Blank²⁵, ¹med.uni-tuebingen, Tübingen, Germany, ²University Hospital Tuebingen, Tuebingen, Germany, ³Department of Internal Medicine, Division of Nephrology,University Hospital of Giessen and Marburg, Marburg, Germany, ⁴Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health,Medical Faculty Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, ⁵Department of Rheumatology and Clinical Immunology,Charité-Universitätsmedizin Berlin, Berlin, Germany, ⁶Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, Nuremberg, Germany, ⁷Pediatrics, Friedrich-Alexander University Erlangen-Nuernberg (FAU), Erlangen, Germany, ⁸Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus,Technische Universität Dresden, Dresden, Germany, ⁹Asklepios Klinik Sankt Augustin GmbH, Bonn, Germany, ¹⁰Hamburger Zentrum für Kinder- und Jugendrheumatologie, Hamburg, Germany, ¹¹University Clinic Erlangen, Erlangen, Germany, ¹²Division of Pediatric Rheumatology, Prof. Hess Children's Hospital, Bremen, Bremen, Germany, ¹³Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany, ¹⁴Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Medical Center, Medical Faculty, University of Freiburg, Freiburg, Germany, ¹⁵Department of General Pharmacology and Toxicology, Goethe University Hospital and Goethe University Frankfurt, Frankfurt am Main, Germany, ¹⁶Department of Paediatric Pneumology, Allergology and Neonatology, Children's Hospital, Hannover Medical School, Hannover, Germany, ¹⁷Hospital for Children & Adolescents, St. Georg Hospital, Leipzig, Germany, ¹⁸Rheumazentrum Ruhrgebiet Herne, Herne, Germany, ¹⁹Division of Pediatric Rheumatology and autoinflammation reference center Tuebingen, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ²⁰Rheumatology Center Greifswald, Greifswald, Germany, ²¹Clinic of Paediatric and Adolescent Rheumatology, St. Josef-Stift Sendenhorst, Northwest German Center for Rheumatology, Sendenhorst, Germany, ²²UKE, Hamburg, Germany, ²³Institute of Clinical Neuroimmunology, Biomedical Center and University Hospital, Ludwig-Maximilians Universität München, Muenchen, Germany, ²⁴Novartis Innovative Medicines, Nuernberg, Germany, ²⁵University Hospital Heidelberg, Heidelberg, Germany
Background/Purpose: Autoinflammatory diseases (AID) have been treated safely and effectively with the interleukin-1β inhibitor canakinumab (CAN) in controlled trials and routine clinical practice. The most…
Abstract Number: 0276 • ACR Convergence 2023
Disease Control in Patients with Monogenetic Autoinflammatory Diseases Under Canakinumab Treatment – Comparison of 30 Months Interim Data from the RELIANCE Registry
Ivan Foeldvari¹, Tilmann Kallinich², Norbert Blank³, Joerg Henes⁴, Birgit Kortus-Goetze⁵, Prasad T. Oommen⁶, Anne Pankow⁷, Tobias Krickau⁸, Catharina Schuetz⁹, Gerd Horneff¹⁰, Juergen Rech¹¹, Frank Weller-Heinemann¹², Ales Janda¹³, Markus Hufnagel¹⁴, Florian M. Meier¹⁵, Frank Dressler¹⁶, Michael Borte¹⁷, Ioana Andreica¹⁸, Peter Wasiliew¹⁹, Michael Fiene²⁰, Daniel Windschall²¹, Martin Krusche²², Tania Kuempfel²³, Julia Weber-Arden²⁴ and Jasmin B. Kuemmerle-Deschner²⁵, ¹Hamburger Zentrum für Kinder- und Jugendrheumatologie, Hamburg, Germany, ²Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, Nuremberg, Germany, ³University Hospital Heidelberg, Heidelberg, Germany, ⁴University Hospital Tuebingen, Tuebingen, Germany, ⁵Department of Internal Medicine, Division of Nephrology,University Hospital of Giessen and Marburg, Marburg, Germany, ⁶Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health,Medical Faculty Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, ⁷Department of Rheumatology and Clinical Immunology,Charité-Universitätsmedizin Berlin, Berlin, Germany, ⁸Pediatrics, Friedrich-Alexander University Erlangen-Nuernberg (FAU), Erlangen, Germany, ⁹Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus,Technische Universität Dresden, Dresden, Germany, ¹⁰Asklepios Klinik Sankt Augustin GmbH, Bonn, Germany, ¹¹University Clinic Erlangen, Erlangen, Germany, ¹²Division of Pediatric Rheumatology, Prof. Hess Children's Hospital, Bremen, Bremen, Germany, ¹³Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany, ¹⁴Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Medical Center, Medical Faculty, University of Freiburg, Freiburg, Germany, ¹⁵Department of General Pharmacology and Toxicology, Goethe University Hospital and Goethe University Frankfurt, Frankfurt am Main, Germany, ¹⁶Department of Paediatric Pneumology, Allergology and Neonatology, Children's Hospital, Hannover Medical School, Hannover, Germany, ¹⁷Hospital for Children & Adolescents, St. Georg Hospital, Leipzig, Germany, ¹⁸Rheumazentrum Ruhrgebiet Herne, Herne, Germany, ¹⁹Division of Pediatric Rheumatology and autoinflammation reference center Tuebingen, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ²⁰Rheumatology Center Greifswald, Greifswald, Germany, ²¹Clinic of Paediatric and Adolescent Rheumatology, St. Josef-Stift Sendenhorst, Northwest German Center for Rheumatology, Sendenhorst, Germany, ²²UKE, Hamburg, Germany, ²³Institute of Clinical Neuroimmunology, Biomedical Center and University Hospital, Ludwig-Maximilians Universität München, Muenchen, Germany, ²⁴Novartis Innovative Medicines, Nuernberg, Germany, ²⁵med.uni-tuebingen, Tübingen, Germany
Background/Purpose: Treatment of autoinflammatory periodic diseases (AID) with the interleukin-1β inhibitor canakinumab (CAN) has been shown to be safe and effective in controlled trials and…
Abstract Number: 1936 • ACR Convergence 2023
Higher Rates of Disease Control During the Coronavirus Pandemic in Pediatric Patients with Autoinflammatory Periodic Diseases on Canakinumab Treatment – Interim Data from the RELIANCE Registry
Gerd Horneff¹, Norbert Blank², Jasmin B. Kuemmerle-Deschner³, Joerg Henes⁴, Birgit Kortus-Goetze⁵, Prasad T. Oommen⁶, Anne Pankow⁷, Tobias Krickau⁸, Catharina Schuetz⁹, Ivan Foeldvari¹⁰, Juergen Rech¹¹, Frank Weller-Heinemann¹², Ales Janda¹³, Markus Hufnagel¹⁴, Florian M. Meier¹⁵, Frank Dressler¹⁶, Michael Borte¹⁷, Ioana Andreica¹⁸, Peter Wasiliew¹⁹, Michael Fiene²⁰, Daniel Windschall²¹, Martin Krusche²², Tania Kuempfel²³, Julia Weber-Arden²⁴ and Tilmann Kallinich²⁵, ¹Asklepios Klinik Sankt Augustin GmbH, Bonn, Germany, ²University Hospital Heidelberg, Heidelberg, Germany, ³med.uni-tuebingen, Tübingen, Germany, ⁴University Hospital Tuebingen, Tuebingen, Germany, ⁵Department of Internal Medicine, Division of Nephrology,University Hospital of Giessen and Marburg, Marburg, Germany, ⁶Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health,Medical Faculty Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, ⁷Department of Rheumatology and Clinical Immunology,Charité-Universitätsmedizin Berlin, Berlin, Germany, ⁸Pediatrics, Friedrich-Alexander University Erlangen-Nuernberg (FAU), Erlangen, Germany, ⁹Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus,Technische Universität Dresden, Dresden, Germany, ¹⁰Hamburger Zentrum für Kinder- und Jugendrheumatologie, Hamburg, Germany, ¹¹University Clinic Erlangen, Erlangen, Germany, ¹²Division of Pediatric Rheumatology, Prof. Hess Children's Hospital, Bremen, Bremen, Germany, ¹³Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany, ¹⁴Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Medical Center, Medical Faculty, University of Freiburg, Freiburg, Germany, ¹⁵Department of General Pharmacology and Toxicology, Goethe University Hospital and Goethe University Frankfurt, Frankfurt am Main, Germany, ¹⁶Department of Paediatric Pneumology, Allergology and Neonatology, Children's Hospital, Hannover Medical School, Hannover, Germany, ¹⁷Hospital for Children & Adolescents, St. Georg Hospital, Leipzig, Germany, ¹⁸Rheumazentrum Ruhrgebiet Herne, Herne, Germany, ¹⁹Division of Pediatric Rheumatology and autoinflammation reference center Tuebingen, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ²⁰Rheumatology Center Greifswald, Greifswald, Germany, ²¹Clinic of Paediatric and Adolescent Rheumatology, St. Josef-Stift Sendenhorst, Northwest German Center for Rheumatology, Sendenhorst, Germany, ²²UKE, Hamburg, Germany, ²³Institute of Clinical Neuroimmunology, Biomedical Center and University Hospital, Ludwig-Maximilians Universität München, Muenchen, Germany, ²⁴Novartis Innovative Medicines, Nuernberg, Germany, ²⁵Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, Nuremberg, Germany
Background/Purpose: Pediatric patients with autoinflammatory diseases (AID) on Canakinumab (CAN) therapy have been affected by the coronavirus pandemic including SARS-CoV-2 infection, SARS-CoV-2 vaccination, and AID…
Abstract Number: 2039 • ACR Convergence 2023
Clinical, Immunologic, and Genetic Characteristics in Patients with Syndrome of Undifferentiated Recurrent Fevers (SURF)
Marci Macaraeg, Michael Matt, Elizabeth Handorf, Elizabeth Baker and Grant Schulert, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Unexplained recurrent fevers are a common presentation to pediatric rheumatology and a significant burden to affected families due to missed daycare or school days…
Abstract Number: 0149 • ACR Convergence 2022
Autoinflammatory Diseases Associated with NOD2 and Other Concurrent Genetic Mutations
Hafsa Nomani, Brianne Navetta-Modrov, Mark Yun and QingPing Yao, Stony Brook University, Stony Brook, NY
Background/Purpose: Systemic autoinflammatoy diseases (SAIDs) are primarily caused by abnormal innate immune response. NOD-like receptors (NLRs) are intracellular sensors to the immune process, including NOD2,…
Abstract Number: 1940 • ACR Convergence 2022
Genetic Variants and Cytokine Signatures in Patients with Syndrome of Undifferentiated Recurrent Fevers
Marci Macaraeg, Michael Matt, Grant Schulert, Elizabeth Baker and Elizabeth Handorf, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Unexplained, recurrent fevers are a common presentation to pediatric rheumatology and a cause of significant burden to affected families due to days of daycare…
Abstract Number: 1943 • ACR Convergence 2022
Prevalence and Evolution of Undifferentiated Periodic Fever Syndromes in an Academic Pediatric Rheumatology Practice
Jacob Anderson¹, Catherine Bingham², Lisabeth Scalzi³, Natalya Gaffney⁴, Kimberly Hays⁵, Brandt Groh² and Timothy Hahn², ¹Phoenix Children's Hospital, Phoenix, AZ, ²Penn State Children's Hospital, Hershey, PA, ³Penn State Health, Hummelstown, PA, ⁴Self-Employed, Carlisle, PA, ⁵Penn State Health, Hershey, PA
Background/Purpose: Periodic Fever Syndromes (PFS) are common referrals to pediatric rheumatology clinics. While the syndrome of Periodic Fevers, Aphthous stomatitis, Pharyngitis, and Adenitis (PFAPA) is…

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.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, 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 of editorial news coverage) is under media embargo until 10:00 AM CT on October 25. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].