Abstracts tagged "Autoinflammatory diseases"

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…
Abstract Number: 0014 • ACR Convergence 2022
The Expanded CD21 Low B Cell Subpopulation in Ankylosing Spondylitis Consists Mainly of Antigen-Inexperienced Cells
Rick Wilbrink¹, Linda van der Weele², Anneke Spoorenberg¹, Niek De Vries², Frans Kroese¹ and Gwenny Verstappen¹, ¹University Medical Center Groningen, Groningen, Netherlands, ²University Medical Center Amsterdam, Amsterdam, Netherlands
Background/Purpose: The role of B cells in the pathogenesis of ankylosing spondylitis (AS) remains relatively understudied. Nevertheless, available evidence shows presence of B cells at…
Abstract Number: 0584 • ACR Convergence 2022
Non-Clinical Evaluations of Deucravacitinib and Janus Kinase Inhibitor Specificity in Inflammatory or Homeostatic Pathways
Brandon Johnson, Jennifer Koenitzer, Peter Schafer and Ian M. Catlett, Bristol Myers Squibb, Princeton, NJ
Background/Purpose: Deucravacitinib is a selective inhibitor of tyrosine kinase 2 (TYK2) that has shown clinical efficacy in psoriasis, PsA, and SLE. Deucravacitinib is an allosteric…
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…

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