Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 1321 • ACR Convergence 2022
Systemic Inflammatory-based Scores and Bone Turnover Ratio as Novel Diagnostic Tools for Chronic Nonbacterial Osteomyelitis (CNO) of the Sternocostoclavicular Region in Adults
Anne Leerling, Juliette Faber, Natasha Appelman-Dijkstra, Olaf Dekkers and Elizabeth Winter, Leiden University Medical Center, Leiden, Zuid-Holland, Netherlands
Background/Purpose: Chronic non-bacterial osteomyelitis (CNO) in adults exhibits as sterile osteitis and consequent disrupted bone metabolism favoring bone formation of the sternocostoclavicular region (SCCH). Diagnosis…
Abstract Number: 1936 • ACR Convergence 2022
A De Novo Dominant-negative PSMB8 mutation is Linked to a More Severe CANDLE-like Phenotype
Sara Alehashemi¹, Adriana Almeida de Jesus², Jonas Johannes Papendorf³, Farzana Bhuyan⁴, Kat Uss⁵, Anvitha Metpally⁶, Bin Lin⁷, Sophia Park⁸, Thais C.L. Moura⁹, Renata R Dias⁹, Mayra B. Dorna⁹, Katia Kozu⁹, Adriana Sallum⁹, Lucia M. A. Campos⁹, Gijs Santen¹⁰, Jesper Kers¹⁰, Onno Teng¹¹, Karin Palmblad¹², Tom Huizinga¹⁰, Frédéric Ebstein¹³, Elke Krüger¹³ and Raphaela Goldbach-Mansky¹⁴, ¹NIH/NIAID/TADS, Clarksville, MD, ²NIAID, NIH, Silver Spring, MD, ³Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany, ⁴National Institutes of Health, Bethesda, MD, ⁵National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ⁶NIAID, NIH, Bethesda, MD, ⁷NIH, Bethesda, MD, ⁸NIAID, Bethesda, MD, ⁹Children's Hospital of the University of São Paulo, São Paulo, Brazil, ¹⁰Leiden University Medical Center, Leiden, Netherlands, ¹¹Leiden University Medical Center, Leiderdorp, Netherlands, ¹²Karolinska University Hospital, Stockholm, Sweden, ¹³Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany, ¹⁴NIH/NIAID, Potomac, MD
Background/Purpose: Homozygote (HM)/compound heterozygote (CH) and digenic (DG) mutations in proteasome subunits cause the autoinflammatory syndrome CANDLE, or proteasome-associated autoinflammatory syndrome (PRAAS). Inflammation is mediated…
Abstract Number: 0021 • ACR Convergence 2022
DB-2306, a Novel Anti-TNFα Monoclonal Antibody Drug Conjugate, Is a Promising Novel Therapeutic Approach for Autoimmune Disease
Xi Li, Yu Zhang, Bing Li and Haiqing Hua, Duality Biologics, Shanghai, China
Background/Purpose: Small molecule immune modulators, such as glucocorticoids (GCs), are highly effective in treatment for various inflammatory diseases. However, prolonged systemic administration of GCs is…
Abstract Number: 0735 • ACR Convergence 2022
Facilitators and Barriers to Weekly Monitoring of Disease Activity with Electronic Patient Reported Outcomes: A Focus Group Study of Patients with Inflammatory Arthritis
Jim Wiegel¹, Bart Seppen², Michael Nurmohamed³, Marieke ter Wee⁴ and Wouter Bos¹, ¹Reade Rheumatology Center, Amsterdam, Netherlands, ²Vrije Universiteit | Reade, Amsterdam, Netherlands, ³Amsterdam University Medical Center, Kortenhoef, Netherlands, ⁴Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, Netherlands
Background/Purpose: Telemonitoring disease activity with electronic patient reported outcomes (ePRO's) may reduce the workload of rheumatic care by decreasing outpatient clinic visits. However, low adherence…
Abstract Number: 1345 • ACR Convergence 2022
Is Perceived Stress Associated with COVID-19 or Having a Systemic Rheumatic Disease?
Jonah Levine, Medha Barbhaiya, Vivian Bykerk, Deanna Jannat-Khah, DrPH, MSPH and Lisa Mandl, Hospital for Special Surgery, New York, NY
Background/Purpose: The SARS-CoV-2 pandemic is a worldwide mental health crisis. We evaluated perceived stress in patients seeking care for musculoskeletal conditions, and explored associations with…
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: 0038 • ACR Convergence 2022
STING Antagonist (IFM4490) Inhibits STING Activation and STING Dependent Signal Transduction in Patients with STING-associated Vasculopathy with Onset in Infancy (SAVI)
Sachin Gaurav¹, Bin Lin², Sophia Park³, Shankar Venkatraman⁴, David Winkler⁴ and Raphaela Goldbach-Mansky⁵, ¹Translational Autoinflammatory Diseases Section, LCIM, NIAID,, Bethesda, MD, ²NIH, Bethesda, MD, ³NIAID, Bethesda, MD, ⁴IFM Therapeutics, Boston, MA, ⁵NIH/NIAID, Potomac, MD
Background/Purpose: SAVI is a rare, autoinflammatory type I interferonopathy caused by gain-of-function mutations that cause STING activation and excessive production of type I interferons and…
Abstract Number: 0785 • ACR Convergence 2022
Humoral Immune Responses Following Four SARS-CoV-2 Vaccine Doses or COVID-19 Infection in Patients with Immune-Mediated Inflammatory Diseases on Immunosuppressive Therapy: A Prospective Cohort Study
Hilde Ørbo¹, Kristin Hammersbøen Bjørlykke², Joe Sexton¹, Anne Therese Tveter¹, Ingrid Jyssum¹, Ingrid Egeland Christensen¹, David Warren³, Tore K. Kvien¹, Adity Chopra⁴, Grete Birkeland Kro³, Jørgen Jahnsen², Ludvig A. Munthe³, Espen Haavardsholm¹, Gunnveig Grødeland³, Sella Aarrestad Provan¹, Kristin Kaasen Jørgensen², Silje Watterdal Syversen¹ and Guro Løvik Goll¹, ¹Diakonhjemmet Hospital, Oslo, Norway, ²Akershus University Hospital, Oslo, Norway, ³Oslo University Hospital, Oslo, Norway, ⁴Oslo University Hospital, Oslo, Oslo, Norway
Background/Purpose: Patients with immune-mediated inflammatory diseases (IMIDs) on immunosuppressive therapy have impaired humoral immune responses to SARS-CoV-2 vaccination. This study aimed to assess serologic response…
Abstract Number: 1568 • ACR Convergence 2022
Evaluation for Allogeneic Hematopoietic Stem Cell Transplant Indications and Eligibility in a Prospective Cohort of Patients with VEXAS
Marcela Ferrada¹, Peter Grayson², Lorena Wilson³, David Beck⁴, Wendy Goodspeed⁵, Ivana Darden⁶, Emma Groarke⁶, Dennis Hickstein⁶ and Bhavisha Patel⁷, ¹National Institutes of Health, Bethesda, MD, ²National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³National Institutes of Health, Silver Spring, MD, ⁴New York University, New York, NY, ⁵National Institutes of Health (NIH), Bethesda, MD, ⁶NIH/NHLBI, Bethesda, MD, ⁷National Institutes of Health, Beltsville, MD
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly described genetic disease due to mutations in UBA1 in hematopoietic stem cells. Patients…
Abstract Number: 1942 • ACR Convergence 2022
Maybe Silent: Spine Disease in Chronic Recurrent Multifocal Osteomyelitis, Clinical Features, Risk Factors, and Red Flags
Shima Yasin¹, T. Shawn Sato², Emma Leisinger², Aleksander Lenert², Yongdong (Dan) Zhao³ and Polly Ferguson¹, ¹University of Iowa Carver College of Medicine, Iowa City, IA, ²University of Iowa, Iowa City, IA, ³University of Washington, Redmond, WA
Background/Purpose: Chronic recurrent multifocal osteomyelitis (CRMO) is a female predominant autoinflammatory bone disease. The average age at disease onset is 9-10 years. The majority have…
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: 1157 • ACR Convergence 2021
Patient Perspective on the Non Medical Switch of Originator to Its Biosimilar in Inflammatory Arthritis Using a Social Media Survey
David Vega Morales¹, Alejandro Garza-Alpirez² and Carlos Andrés Díaz-Garza², ¹Hospital Universitario, Garcia, Mexico, ²Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, San Pedro, Mexico
Background/Purpose: The use of biosimilars instead of its originator is a controversial subject with many implications. It is considered that a non medical switch should…
Abstract Number: 0488 • ACR Convergence 2021
Efficacy and Safety of Brepocitinib (Tyrosine Kinase 2/Janus Kinase 1 Inhibitor) for the Treatment of Active Psoriatic Arthritis: Results from a Phase 2b Randomized Controlled Trial
Philip Mease¹, Philip S Helliwell², Paula Silwinska-Stanczyk³, Malgorzata Miakisz⁴, Andrew Ostor⁵, Elena Peeva⁶, Michael Vincent⁶, Vanja Sikirica⁷, Randall Winnette⁸, Ruolun Qiu⁶, Gang Li⁷, Gang Feng⁶, Jean Beebe⁶ and David Martin⁶, ¹Swedish Medical Center/Providence St. Joseph Health and University of Washington, Seattle, WA, ²Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, United Kingdom, ³REUMATIKA – Centrum Reumatologii NZOZ, Warsaw, Poland, ⁴Twoja Przychodnia Centrum Medyczne Nowa Sol, Nowa Sol, Poland, ⁵Monash University, Cabrini Hospital & Emeritus Research, Melbourne, Australia, ⁶Pfizer Inc, Cambridge, MA, ⁷Pfizer Inc, Collegeville, PA, ⁸Pfizer Inc, New York, NY
Background/Purpose: Brepocitinib is a small-molecule tyrosine kinase 2/Janus kinase 1 inhibitor that has shown promising results in an oral formulation for plaque psoriasis and alopecia…
Abstract Number: 1432 • ACR Convergence 2021
Modulation of Auto-Inflammation with a Novel Selective Cyclic GMP-AMP Synthase (cGAS) Inhibitor in a Trex1-/- Model
Kelly Pike¹, Alexandre Caron¹, Emilie Bérubé¹, Ramsay Beveridge¹, Marc-Oliver Boily¹, Jason Burch¹, Valerie Dumais¹, Nadine Fradet¹, Samuel Gaudreault¹, Daniel McKay¹, Marianne Raymond¹, Eleftheria Seliniotakis¹, Daniel Sietsema³, Alexander Skeldon¹, Miguel St.-Onge¹, Li Wang² and Michael Crackower², ¹Ventus Therapeutics, Montréal, QC, Canada, ²Ventus Therapeutics, Waltham, MA

Background/Purpose: The detection of viral nucleic acids (NA) elicits a transient type I interferon (IFN) response central to antiviral immunity. Chronic type I IFN responses…
Abstract Number: 0537 • ACR Convergence 2021
The Clinical, Oral Small Molecule IRAK4 Inhibitor, GS-5718, Improves Survival and Reduces Disease Pathologies by Modulating Multiple Inflammatory Endpoints in the Murine NZB/W Model of Spontaneous Lupus
Adam Yadon¹, Vanessa Gorney², Angie Hammond³, Ethan Grant² and Astrid Clarke³, ¹Gilead Sciences, Inc., Seattle, WA, ²Gilead Sciences, Inc, Foster City, CA, ³Gilead Sciences, Inc, Seattle, WA
Background/Purpose: Lupus is a heterogenous autoimmune disease characterized by loss of immune tolerance, production of nucleic acid:autoantibody immune complexes, immune cell hyperactivation, and increased proinflammatory…

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