Abstracts tagged "Autoinflammatory diseases"

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: 0039 • ACR Convergence 2022
Type I and Type II Interferon and NF-κB-Response Gene Scores and Serum Cytokine Levels in Patients with Various Systemic Autoinflammatory Diseases
Sophia Park¹, Andre Rastegar², Farzana Bhuyan³, Sara Alehashemi⁴, Danielle Fink², Douglas Kuhns², Adriana Almeida de Jesus⁵ and Raphaela Goldbach-Mansky⁶, ¹NIAID, Bethesda, MD, ²NIH, Bethesda, MD, ³National Institutes of Health, Bethesda, MD, ⁴NIH/NIAID/TADS, Clarksville, MD, ⁵NIAID, NIH, Silver Spring, MD, ⁶NIH/NIAID, Potomac, MD
Background/Purpose: Patients with systemic autoinflammatory diseases (SAIDs) present with chronic and acute elevations of proinflammatory serum cytokine and chemokine levels during exacerbations of disease flares.…
Abstract Number: 0789 • ACR Convergence 2022
The Persistence of Anti-Spike Antibodies Following Two SARS-CoV-2 Vaccine Doses in Patients with Immune-mediated Inflammatory Diseases on Immunosuppressive Therapy Compared to Healthy Controls: A Prospective Cohort Study
Ingrid Egeland Christensen¹, Ingrid Jyssum¹, Anne Therese Tveter¹, Joe Sexton¹, Siri Mjaaland², Grete Birkeland Kro³, Tore K. Kvien¹, David Warren³, Jørgen Jahnsen⁴, Ludvig A. Munthe³, Espen Haavardsholm¹, Gunnveig Grødeland³, Kristin Kaasen Jørgensen⁴, Silje Watterdal Syversen¹, Guro Løvik Goll¹ and Sella Aarrestad Provan¹, ¹Diakonhjemmet Hospital, Oslo, Norway, ²Norwegian Institute of Public Health, Oslo, Norway, ³Oslo University Hospital, Oslo, Norway, ⁴Akershus University Hospital, Oslo, Norway
Background/Purpose: The durability of vaccine-induced humoral immunity against SARS-CoV-2 in patients with immune-mediated inflammatory diseases (IMIDs) on immunosuppressive therapy is not well characterized. The aim…
Abstract Number: 1689 • ACR Convergence 2022
Oral Ginger Supplementation Counteracts NETosis in Autoimmune Mouse Models and in Healthy Humans
Ramadan Ali¹, Miela Zahavi², Christine Rysenga¹, Cyrus Sarosh³, Claire Hoy¹, Kristen Demoruelle⁴ and Jason S Knight⁵, ¹University of Michigan, Ann Arbor, MI, ²Universtiy of Michigan, Ann Arbor, MI, ³University of Michigan, Temperance, MI, ⁴University of Colorado Anschutz Medical Campus, Aurora, CO, ⁵University of Michigan, Division of Rheumatology, Ann Arbor, MI
Background/Purpose: It has previously been reported that 6-gingerol, the most abundant phytochemical in ginger root, inhibits neutrophil phosphodiesterase activity and thereby counteracts neutrophil hyperactivity in…
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…
Abstract Number: 0130 • ACR Convergence 2022
Three Chinese Pedigrees of A20 Haploinsufficiency
Yi Tian¹, Min Shen², Bingxuan Wu², linyi Peng² and Jian Wang³, ¹Rheumatology Department, The Second Affiliated Hospital of Dalian Medical University, Dalian, China, ²Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China, ³Jinzhou City Center for Disease Control and Prevention, Jinzhou, China
Background/Purpose: Haploinsufficiency of A20 (HA20) is a newly described rare autoinflammatory disease caused by TNFAIP3 gene mutations. HA20 has been seldom documented in the Chinese…
Abstract Number: 0791 • ACR Convergence 2022
Immunogenicity and Safety of a Three-dose SARS-CoV-2 Vaccination Strategy in Patients with Immune-mediated Inflammatory Diseases on Immunosuppressive Therapy
Ingrid Jyssum¹, Anne Therese Tveter¹, Joe Sexton¹, Ingrid Egeland Christensen¹, Siri Mjaaland², David Warren³, Tore K. kvien¹, Kristin Hammersbøen Bjørlykke⁴, Grete Birkeland Kro³, Jørgen Jahnsen⁴, Ludvig A. Munthe³, Espen Haavardsholm¹, Gunnveig Grødeland³, Sella Aarrestad Provan¹, Kristin Kaasen Jørgensen⁴, Guro Goll¹ and Silje Watterdal Syversen¹, ¹Diakonhjemmet Hospital, OSLO, Norway, ²Norwegian Institute of Public Health, Oslo, Norway, ³Oslo University Hospital, Oslo, Norway, ⁴Akershus University Hospital, Oslo, Norway
Background/Purpose: Humoral vaccine responses to SARS-Cov-2 vaccines are impaired and short lasting in patients with immune-mediated inflammatory diseases (IMIDs). Concerns have been raised regarding their…

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