Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 2059 • ACR Convergence 2023
Management of Iatrogenic, Recombinant Interleukin-1 Receptor Antagonist-type Amyloidosis on NOMID in Patients on Anakinra
Sara Alehashemi¹, Anvitha Metpally², Surendra Dasari³, Kat Uss², Londa Hathaway⁴, Douglas B. Kuhns⁵, Danielle Fink⁵, Chyi-Chia Richard Lee⁶, Leslie A Castelo-Soccio⁴, Edward W. Cowen⁴, Samih H. Nasr⁷, Ellen McPhail⁷ and Raphaela Goldbach-Mansky⁸, ¹NIH/NIAID/TADS, Clarksville, MD, ²NIAID, NIH, Bethesda, MD, ³Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, ⁴NIAMS, NIH, Bethesda, MD, ⁵Frederick National Laboratory for Cancer Research, Bethesda, MD, ⁶NCI, NIH, Bethesda, MD, ⁷Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, ⁸NIH/NIAID, Potomac, MD
Background/Purpose: Patients with Neonatal-Onset Multisystem Inflammatory Disease (NOMID) often require long-term high-dose treatment with anakinra at 5-8 mg/kg daily subcutaneous injections to control CNS inflammation…
Abstract Number: 0259 • ACR Convergence 2023
Preliminary Experience with a Novel “Fix” for Deep Epitope and Transcriptional Phenotyping of Fragile Cells from Autoinflammatory Flares
Hallie Carol¹, Emily Landy² and Scott Canna¹, ¹Children's Hospital of Philadelphia, Philadelphia, PA, ²University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Autoinflammatory diseases (AID) are characterized by inflammation and immunopathology due to primary defects in the innate immune response. Neutrophils (PMN) feature prominently in the…
Abstract Number: 1125 • ACR Convergence 2023
A Rheumatologic Clinical Profile of the VEXAS Syndrome: Results from a Survey Conducted Among Rheumatologic Units of 126 Hospitals Across Spain
Marta López I Gómez¹, Paula García Escudero², Marta López³, Berta Magallanes López⁴, Meritxell Salles Lizarzaburu⁵, Beatriz Frade Sosa⁶, Elena Riera⁷, Ernesto Trallero Araguás⁸, MARIA ELVIRA DIEZ ALVAREZ⁹, Francisco Javier Toyos Sáenz de Miera¹⁰, Alicia Garcia Dorta¹¹, José Ángel Hernández Beriain¹², Marta Ibáñez Martínez¹³, carolina Merino¹⁴, PALOMA VELA¹⁵, Ana Victoria Orenes Vera¹⁶, Diego Dios Santos¹⁷, Jose Alberto Miranda Filloy¹⁸, Clara García Belando¹⁹, María Rodríguez Laguna²⁰, Ignacio Vázquez²¹, Joaquin Belzunegui²², Judit Font²³, Carlos de Miguel Sánchez²⁴, Zuriñe Ortiz de Zárate Caballero²⁵ and Jaime Calvo Alén²⁶, ¹Hospital Universitario de Araba, Pamplona, Spain, ²Hospital Universitario Araba, Bilbao, Spain, ³Hospital Universitario Arava, Pamplona, Spain, ⁴Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, ⁵C. H. de Manresa - Fundació Althaia, Barcelona, Spain, ⁶Hospital Clínic de Barcelona, Barcelona, Spain, ⁷H. U. Mútua Terrasa, Barcelona, Spain, ⁸Department of Rheumatology, Hospital Universitario Vall d'Hebron, Barcelona, Spain, ⁹Rheumatology, Hospital Universitario de León, León, Spain, ¹⁰Hospital Virgen Macarena, Sevilla, Spain, ¹¹Rheumatology Unit, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain, ¹²Rheumatology, Hospital Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain, ¹³C. A. U. de Salamanca, Salamanca, Spain, ¹⁴Rheumatology Department Hospital Universitario Puerta de Hierro, Majadahonda (Madrid), Spain, ¹⁵Rheumatology, Hospital General Universitario Alicante, Alicante, Spain, ¹⁶H. Arnau de Vilanova, Valencia, Spain, ¹⁷Rheumatology department, Complexo Hospitalario Universitario A Coruña (CHUAC). Instituto de Investigación Biomédica A Coruña (INIBIC), A Coruña, Spain, ¹⁸C. H. U. Lucus Augusti, Lugo, Spain, ¹⁹Hospital Los Arcos del Mar Menor, Murcia, Spain, ²⁰H. Clínico San Carlos, Madrid, Spain, ²¹H. U. Dr. Peset, Valencia, Spain, ²²H. C. Alto Deba, Donostia, Spain, ²³Hospital Universitario Germans Trias i Pujol, Badalona, Spain, ²⁴Hospital Universitario de Araba, Hematology, VItoria, Spain, ²⁵Hospital Universitario de Araba, Internal Medicine, Vitoria, Spain, ²⁶Hospital Universitario Araba, Vitoria, Spain
Background/Purpose: The newly described VEXAS syndrome is a very heterogenous disease with rheumatologic and hematologic manifestations, caused by somatic mutations affecting UBA1 gene, that still…
Abstract Number: 1913 • ACR Convergence 2023
Neurosarcoidosis Disease Epidemiology. University Hospital in Northern Spain 1999-2019
Ana Serrano-Combarro¹, Alba Herrero-Morant², Lara Sanchez-Bilbao³, Inigo Gonzalez-Mazon³, David Martinez-Lopez⁴, Jose Luis Martin-Varillas⁵, Raul Fernandez-Ramon⁶ and Ricardo Blanco⁷, ¹Hospital Universitario Marques de Valdecilla, IDIVAL, Santander, Spain, ²Hospital Universitario Marqués de Valdecilla, Ontinyent, Spain, ³Hospital Universitario Marques de Valdecilla, Santander, Spain, ⁴Hospital de Sierrallana, Santander, Spain, ⁵Hospital de Laredo, Laredo, Spain, ⁶Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁷Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain
Background/Purpose: Neurosarcoidosis (NS) is a serious and relative uncommon complication of sarcoidosis. Data on incidence is scarce and varies worldwide. Our objective is toestimate NS…
Abstract Number: 2175 • ACR Convergence 2023
Real-World Drug Persistence of GP2015, an Etanercept Biosimilar, in Patients with Rheumatoid Arthritis: Results from the Multi-Country COMPACT Study
Marc Schmalzing¹, Charlotte Both², Ines Brueckmann², Javier de Toro Santos³, Tom Sheeran⁴, Herbert Kellner⁵ and Ayman Askari⁶, ¹University Hospital, Rheumatology/Clinical Immunology, Department of Internal Medicine II, Würzburg, Germany, ²Sandoz Hexal AG, Rheumatology, Holzkirchen, Germany, ³University Hospital Coruña, Rheumatology, A Coruña, Spain, ⁴University of Wolverhampton, New Cross Hospital, Wolverhampton, United Kingdom, ⁵Hospital Neuwittelsbach, Center for Rheumatology and Gastroenterology, Munich, Germany, ⁶Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Rheumatology, Shropshire, United Kingdom
Background/Purpose: COMPACT is a multi-country, non-interventional study that evaluated the drug persistence, effectiveness, safety and patient-reported outcomes in patients with rheumatoid arthritis (RA), axial spondyloarthritis…
Abstract Number: 0260 • ACR Convergence 2023
Phenotypes of the Patients with More Than One Autoinflammatory Gene Variant: Classified Diseases and Mixed Autoinflammatory Disorders (MAID)
Shirkhan Amikishiyev¹, Tuğba Kalaycı², Lale Soltanova³, Yasemin Yalçınkaya⁴, Bahar Artim-Esen¹, Murat Inanc¹, Ayla Sahin², Sema Sırma Ekmekci⁵, Neslihan Abacı⁵, Sukru Ozturk², Sukru Palanduz² and Ahmet Gul¹, ¹Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ²Department of Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ³Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁴Istanbul University, Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ⁵Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkey
Background/Purpose: Background: Systemic autoinflammatory disorders (SAIDs) are including a group of diseases, which are associated with genetic variations resulting in dysregulation of innate immunity and…
Abstract Number: 1129 • ACR Convergence 2023
Accuracy and Performance Characteristics of Administrative Codes for the Diagnosis of Autoinflammatory Syndromes: A Discovery and Validation Study
Saeyun Lee¹, Sujin Kim², Suzanne Segerstrom², Polly Ferguson¹ and Aleksander Lenert³, ¹University of Iowa Carver College of Medicine, Iowa City, IA, ²University of Kentucky, Lexington, KY, ³University of Iowa, Iowa City, IA
Background/Purpose: Autoinflammatory syndromes (AIS), a group of rare rheumatic diseases driven by the innate immune system, remain understudied due to the lack of prospective cohorts.…
Abstract Number: 1916 • ACR Convergence 2023
Clinical Features of the Patients with NLRP1 Gene Variants and a Systemic Autoinflammatory Phenotype
Shirkhan Amikishiyev¹, Tuğba Kalaycı², Rabia Deniz³, Yasemin Yalçınkaya⁴, Bahar Artim-Esen¹, Murat Inanc¹, Ayla Sahin², Sema Sırma Ekmekci⁵, Neslihan Abacı⁵, Sukru Ozturk², Sukru Palanduz² and Ahmet Gul¹, ¹Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ²Department of Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ³Division of Rheumatology, University of Health Sciences, Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey, ⁴Istanbul University, Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ⁵Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkey
Background/Purpose: Although NLRP1 was the first identified member of the NOD-like receptors family, its role as a sensor of pathogen- or damage-associated signals and its…
Abstract Number: 2477 • ACR Convergence 2023
Anifrolumab Normalizes the Type I Interferon Signature in a Cohort of Patients with Type I Interferonopathies
Sara Alehashemi¹, Alexi Baumgardner², Bita Shakoory³, Adriana Almeida de Jesus², Sophia Park², Kat Uss², Maria P. Robles⁴, Karin Palmblad⁵, Annacarine Horne⁵, Peter Brodin⁵, Shoghik Akoghlanian⁶, Roshini Abraham⁷, Peter Mustillo⁷, Lilliana Barillas-Arias⁸, Andrea Heras⁹, Theresa Wampler Muskardin¹⁰, Monica G. Lawrence¹¹, Hannah C. Mannem¹¹, Brian E. Nolan¹², Scott Canna¹³, Adam Reinhardt¹⁴, Bryce Binstadt¹⁵ and Raphaela Goldbach-Mansky¹⁶, ¹NIH/NIAID/TADS, Clarksville, MD, ²NIAID, NIH, Bethesda, MD, ³NIH, NIAID, Translational Autoinflammatory Disease Study Unit, Bethesda, MD, ⁴Indiana University, Indianapolis, IN, ⁵Karolinska University Hospital, Stockholm, Sweden, ⁶Nationwide Children's Hospital, Columbus, OH, ⁷Nationwide Children's Hospital, Columbus, OH, ⁸Albany Medical Center, Albany, NY, ⁹Weill Cornell Medicine, New York, NY, ¹⁰Hospital for Special Surgery, New York, NY, ¹¹University of Virginia, Charlottesville, VA, ¹²Lurie Children’s Hospital, Chicago, IL, ¹³Children's Hospital of Philadelphia, Philadelphia, PA, ¹⁴Boys Town National Research Hospital, Omaha, NE, ¹⁵University of Minnesota, Minneapolis, MN, ¹⁶NIH/NIAID, Potomac, MD
Background/Purpose: Autoinflammatory Type I Interferonopathies (IFNopathies) include SAVI (STING-associated vasculopathy with onset in infancy), CANDLE/PRASS (Chronic atypical neutrophilic dermatosis, with lipodystrophy and elevated temperature), and…
Abstract Number: 0269 • ACR Convergence 2023
Acute Kidney Injury and Plasma Cell-Rich Acute Interstitial Nephritis in VEXAS Syndrome: An Under-recognized Disease Feature
Matthew Koster, Loren HerreraHernandez, Lihong Bu, Daniel Montes, Samih Nasr, Lynn Cornell, Kenneth Warrington, Mrinal S. Patnaik, Abhishek A. Mangaonkar and Kambiz Kalantari, Mayo Clinic, Rochester, MN
Background/Purpose: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified autoinflammatory disease with a large variety of disease manifestations. While recurrent fever,…
Abstract Number: 1132 • ACR Convergence 2023
Preclinical Profiles of FZ007-119, a Highly Potent and Selective Tyk2 Inhibitor, for the Treatment of Immune Mediated Inflammatory Diseases
Wenhe Zhong, Jielian Lu, Dong Chen, Shiqun Zhang and Daiguo Deng, Guangzhou Fermion Technology Co., LTD, Guangzhou, China
Background/Purpose: Tyrosine Kinase 2 (TYK2) is a signaling protein within the Janus kinase (JAK) family. It plays a crucial role in transmitting signals from pro-inflammatory…
Abstract Number: 1918 • ACR Convergence 2023
Nationwide Analysis of Predictors of Sarcoid Inpatient Mortality
Michael Manansala¹, Faria Sami², Shilpa Arora³ and Augustine Manadan¹, ¹Rush University Medical Center, Chicago, IL, ²John H. Stroger Jr. Hospital of Cook County, Chicago, IL, ³Cook County Hospital, Chicago, IL
Background/Purpose: Sarcoidosis is multisystem autoimmune disease characterized by noncaseating granulomas which can result in significant morbidity and mortality. This study aims to identify variables associated…
Abstract Number: 2505 • ACR Convergence 2023
Discovery of First-in-Class IRAK4 Scaffolding Inhibitors for the Treatment of Inflammatory Disorders
Kate Byth¹, Rodney Morgan², Pierre Michelys³, Kellie Demock², Geetha Kannan², Qing Chen¹, Brian Sanchez², Xiaokang Lu², Alissa Telling², Chuck Lesch², Carmen Yu², Sarah Bradley², Brian Andresen¹, Sherif Hassanien², Clarke Taylor², Zhilin Hou², Ken Borrelli¹, Anna Gardberg¹, Erika Munschy¹, Adam Schwaid¹, Anthony Opipari², Shifeng Pan³ and Luigi Franchi², ¹Odyssey Therapeutics, Boston, MA, ²Odyssey Therapeutics, Ann Arbor, MI, ³Odyssey Therapeutics, San Diego, CA
Background/Purpose: Interleukin-1 receptor-associated kinase 4 (IRAK4), is a key node that mediates inflammatory signaling in response to activation of toll-like receptor (TLR) and IL-1 receptor…
Abstract Number: 0006 • ACR Convergence 2023
Preclinical Characterization of a Novel anti-CD40 Antagonist Antibody-glucocorticoid Conjugate with Superior Preclinical Efficacy and Favorable Safety Profile
Dianru wang¹, Wenming Ren², lu su¹, yuan lin¹ and cheng liao¹, ¹Jiangsu Hengrui Pharmaceuticals Co., Ltd., Shanghai, China, ²Jiangsu Hengrui Pharmaceuticals Co., Ltd., Pudong New District, China
Background/Purpose: Glucocorticoids (GCs) are the first-line anti-inflammatory treatment for many autoimmune diseases, but long-term systemic administration of GCs is associated with unwanted side effects, which…
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…

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