Abstracts tagged "FMF"

Abstract Number: 0551 • ACR Convergence 2023
Monogenic Lupus: Clinical Phenotypes and Genetic Mutations in a Cohort of Pediatric Patients
Keerthi Vardhan Yerram¹, Kavitha Shanigaaram¹, Gaurang Sudhir Deshpande¹, Akshay Parikh¹, Arjun Ramavath¹, Nanditha Gollakota¹, Ramesh Manthri¹ and Liza Rajasekhar², ¹Department of Clinical Immunology and Rheumatology, Nizams Institute of Medical Sciences, Hyderabad, India, ²Nizam's Institute of Medical Sciences, Madhapur, India
Background/Purpose: Monogenic lupus is associated with specific gene mutations, most commonly reported in TREX1, DNASE1L3, DNASE2, and SAMHD1. However, their phenotypes are not well reported.…
Abstract Number: 0573 • ACR Convergence 2023
Presence of Mediterranean Fever Gene Variants Provides Protection from the Development of Lupus Nephritis in Patients with Systemic Lupus Erythematosus
Yushiro Endo¹, Tomohiro Koga¹ and Atsushi Kawakami², ¹Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University, Nagasaki, Japan, ²Nagasaki University, Nagasaki, Japan
Background/Purpose: Previous studies showed that the prevalence of variants in Mediterranean Fever (MEFV) genes was lower in adult patients with SLE compared to healthy population…
Abstract Number: 0138 • ACR Convergence 2022
Patients with Familial Mediterranean Fever (FMF) Under Canakinumab Treatment – Long-term Efficacy and Safety Interim Data of the RELIANCE Registry
Joerg Henes¹, Jasmin B. Kuemmerle-Deschner², Tobias Krickau³, Tilmann Kallinich⁴, Frank Dressler⁵, Gerd Horneff⁶, Florian Meier⁷, Ivan Foeldvari⁸, Frank Weller-Heinemann⁹, Birgit Kortus-Goetze¹⁰, Markus Hufnagel¹¹, Juergen Rech¹², Prasad T. Oommen¹³, Julia Weber-Arden¹⁴ and Norbert Blank¹⁵, ¹Center for Interdisciplinary Clinical Immunology, Rheumatology and Auto-inflammatory Diseases (INDIRA), University Hospital Tübingen, Tübingen, Germany, ²Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tübingen, Tübingen, Germany, ³Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Pediatrics, Erlangen, Germany, ⁴Charité - Universitätsmedizin Berlin, Nuremberg, Germany, ⁵Division of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany, ⁶Pediatrics, Asklepios Klinik Sankt Augustin GmbH, Sankt Augustin, Germany, ⁷Division of Rheumatology, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany, and Fraunhofer Institute for Molecular Biology and Applied Ecology IME, Project Group Translational Medicine and Pharmacology TMP, Frankfurt, Germany, ⁸Hamburger Zentrum für Kinder- und Jugendrheumatologie, Hamburg, Germany, ⁹Klinikum Bremen-Mitte, Prof. Hess Kinderklinik, Bremen, Germany, ¹⁰Division of Nephrology, University of Marburg, Marburg, Germany, ¹¹Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Hospital Medical Center Freiburg, Medical Faculty, University of Freiburg, Freiburg, Germany, ¹²University Clinic Erlangen, Erlangen, Germany, ¹³Clinic of Pediatric Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, ¹⁴Novartis Pharma GmbH, Nuernberg, Germany, ¹⁵Rheumatology, University Hospital Heidelberg, Heidelberg, Germany
Background/Purpose: Familial Mediterranean fever (FMF) is a chronic disease characterized by recurrent episodes of fever and serositis, with a risk of severe complications (e. g.…
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: 1830 • ACR Convergence 2022
Characteristics of Arthritis in Familial Mediterranean Fever Patients
Ali Yagiz Ayla¹, Selcan Yenigun², sura nur baspinar³, Mebrure Burcak Yuzbasioglu², Arif Alkan³, Ibrahim Durucan³, mert kirman³, baran can polat³, sercan ergun³, Serdal Ugurlu¹ and Huri Ozdogan³, ¹Istanbul University-Cerrahpaşa, Istanbul, Turkey, ²Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, ³Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey
Background/Purpose: Arthritis is one of the most common manifestations in an FMF attack. It is usually in the form of acute mono- or oligoarthritis of…
Abstract Number: 1834 • ACR Convergence 2022
Canakinumab Treatment in Familial Mediterranean Fever Patients with Colchicine Resistance: A Single-center Study
Ibrahim Durucan¹, Ali Yagiz Ayla², Helin Idil Besiroglu¹, Arif Alkan¹, Oguzhan Selvi¹, Huri Ozdogan¹ and Serdal Ugurlu², ¹Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey, ²Istanbul University-Cerrahpaşa, Istanbul, Turkey
Background/Purpose: Recurrent fever and serositis are the hallmarks of Familial Mediterranean fever (FMF). Colchicine is known for yielding high success in disease control by obviating…
Abstract Number: 1839 • ACR Convergence 2022
Appendicitis Still a Challenge for FMF Patients?
Şura Nur Başpınar¹, Arif Alkan², Mebrure Burcak Yuzbasioglu³, Selcan Yenigun³, Ali Yagiz Ayla⁴, Ibrahim Durucan², Mert Candan², Ali Karabiçek², Çağrı Belli², Tuğba Bayraktar², Helin Idil Besiroglu², Huri Ozdogan⁵ and Serdal Ugurlu⁴, ¹İstanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, ²Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey, ³Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, ⁴Istanbul University-Cerrahpaşa, Istanbul, Turkey, ⁵Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine Division of Rheumatology, Istanbul, Turkey
Background/Purpose: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease that is characterized by recurrent episodes of polyserositis. Episodes typically consist of fever, peritonitis, and…
Abstract Number: 0193 • ACR Convergence 2021
Tocilizumab for the Treatment of Familial Mediterranean Fever – a Randomized, Double Blind, Placebo-controlled Phase II Study
Jorg Henes¹, Sebastian Saur², David Kofler³, Martin Krusche⁴, Theodoros Xenitidis⁵, Christoph Meisner⁶, Claudia Kedor⁷, Ina Koetter⁸, Hendrik Schulze-Koops⁹ and Eugen Feist¹⁰, ¹University Hospital Tuebingen, Tuebingen, Germany, ²Universtiy Hostpiatl Tübingen, Tuebingen, Germany, ³Division of Rheumatology and Clinical Immunology, Department I of Internal Medicine; University Hospital Cologne, Cologne, Germany, ⁴Charite Berlin, Berlin, Germany, ⁵University Hospital Tuebingen, Rheumatology, Tuebingen, Germany, ⁶University Tuebingen, Statistics, Tuebingen, Germany, ⁷Charite University Hospital Berlin, Berlin, Germany, ⁸University Hospital Hamburg Eppendorf, Hamburg, Germany, ⁹Division of Rheumatology and Clinical Immunology, Department of Internal Medicine IV, University of Munich, Munich, Germany, ¹⁰Helios Department of Rheumatology, Vogelsang-Gommern, Germany
Background/Purpose: Familial Mediterranean Fever (FMF) is the most common auto-inflammatory disease characterized by chronic inflammation, recurrent episodes of fever, abdominal and thoracic pain due to…
Abstract Number: 0378 • ACR Convergence 2021
Comparison of Demographic, Clinic and Radiological Features of Axial Spondyloarthritis Patients with and Without Accompanying Familial Mediterranean Fever
Murat Kiracı¹, Emre Bilgin², Emine Duran², Bayram Farisogulları³, Ertugrul Cagri bolek⁴, Gözde Kübra Yardımcı², Zehra Ozsoy², Gizem Ayan², Gullu Sandal Uzun², Tayfun Hilmi Akbaba⁵, Banu Balci Peynircioglu⁵, Omer Karadag⁶, Ali Akdogan², Sule Apraş Bilgen², Sedat Kiraz², Ali Ihsan Ertenli², Umut Kalyoncu² and Levent Kilic², ¹Hacettepe University, Faculty of Medicine, Department of Internal Medicine, Ankara, Turkey, ²Hacettepe University, Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Ankara, Turkey, ³Division of Rheumatology, Department of Internal Medicine Faculty of Medicine, Hacettepe University, Ankara, Turkey, ⁴Vasculitis Translational Research Program, NIAMS, NIH, US, Lanham, MD, ⁵Hacettepe University, Faculty of Medicine, Department of Medical Biology, Ankara, Turkey, ⁶Hacettepe University, Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Ankara, Turkey
Background/Purpose: The co-existence rate of Familial Mediterranean Fever (FMF) and axial spondyloarthritis (axSpA) in adults is ranging from 0.5% to 7.5%. Clinical implications of this…
Abstract Number: 1632 • ACR Convergence 2020
Long-Term Efficacy and Safety of Canakinumab in Patients with Autoinflammatory Periodic Fever Syndromes – First Interim Analysis of the FMF-TRAPS-HIDS/MKD Subgroup of the RELIANCE Registry
Joerg Henes¹, Norbert Blank², Michael Borte³, Ivan Foeldvari⁴, Gerd Horneff⁵, Markus Hufnagel⁶, Tilmann Kallinich⁷, Birgit Kortus-Goetze⁸, Catharina Schuetz⁹, Frank Weller-Heinemann¹⁰, Julia Weber-Arden¹¹ and Jasmin Kuemmerle-Deschner¹², ¹Department of Internal Medicine II, Rheumatology, University Hospital Tuebingen, Germany, Tuebingen, Germany, ²Department of Hematology, Oncology and Rheumatology, Internal Medicine V, University Hospital of Heidelberg, Eppelheim, Germany, ³ImmunoDeficiencyCenter Leipzig (IDCL), Hospital St. Georg gGmbH Leipzig, Germany, Leipzig, Germany, ⁴Head of the Hamburg Centre for Pediatric and Adolescence Rheumatology, Budapest, Hungary, ⁵Asklepios Clinic Sankt Augustin, Sankt Augustin, Germany, ⁶Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Hospital Medical Center, Medical Faculty, University of Freiburg, Germany, Freiburg, Germany, ⁷Charite, Berlin, Germany, ⁸Division of Nephrology, University of Marburg, Germany, Marburg, Germany, ⁹Department of Pediatric Immunology, University Hospital Dresden, Dresden, Germany, Dresden, Germany, ¹⁰Klinikum Bremen-Mitte, Prof. Hess Kinderklinik, Bremen, Germany, Bremen, Germany, ¹¹Novartis Pharma GmbH, Nuremberg, Germany, ¹²University Hospital Tuebingen, Tuebingen, Germany
Background/Purpose: Autoinflammatory periodic fever syndromes characterized by excessive interleukin(IL)-1ß release and severe systemic and organ inflammation have been successfully treated with the anti-IL-1ß inhibitor canakinumab.…

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