Abstracts tagged "innate immunity"

Abstract Number: 127 • 2023 Pediatric Rheumatology Symposium
What’s in a Name? A20 Protein Expression in an in Vitro Model of A20 Haploinsufficiency
Patricia Pontes Aires¹, DANIELA GERENT PETRY PIOTTO¹, Andre Cunha¹, Sandro Perazzio² and Maria Teresa Terreri³, ¹Universidade Federal de São Paulo, São Paulo, Brazil, ²Universidade de So Paulo; Fleury Laboratories, São Paulo, Brazil, ³UNIFESP, São Paulo, Brazil
Background/Purpose: Tumor necrosis factor alpha (TNF-alpha) induced protein 3 gene, or TNFAIP3, encodes the A20 protein, an important regulator of the NF-κB pathway. Since its…
Abstract Number: 0562 • ACR Convergence 2022
Large-Scale Targeted Sequencing Study Links Systemic Juvenile Idiopathic Arthritis with Rare Variants of MEFV, LYST, STXBP2, UNC13D
Mariana Correia Marques¹, Danielle Rubin², Emily Shuldiner², Elizabeth Schmitz², Elizabeth Baskin², Andrew Patt³, Alexei Grom⁴, Dirk Foell⁵, Marco Gattorno⁶, John Bohnsack⁷, Rae Yeung⁸, Sampath Prahalad⁹, Elizabeth Mellins¹⁰, Jordi Antón¹¹, Claudio Len¹², Sheila Oliveira¹³, Patricia Woo¹⁴, Seza Ozen¹⁵, INCHARGE Consortium¹⁶ and Michael Ombrello¹⁷, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ³National Center for Advancing Translational Sciences, Bethesda, MD, ⁴Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ⁵University Hospital Münster, Münster, Germany, ⁶Pediatric Clinic and Rheumatology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, ⁷University of Utah, Salt Lake City, UT, ⁸The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁹Emory + Children's Pediatric Institute, Atlanta, GA, ¹⁰Stanford University, Stanford, CA, ¹¹Pediatric Rheumatology Department. Hospital Sant Joan de Déu. Universitat de Barcelona, Esplugues de Llobregat, Spain, ¹²Universidade Federal de São Paulo, São Paulo, Brazil, ¹³Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹⁴University College London, London, United Kingdom, ¹⁵Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹⁶International Childhood Arthritis Genetics Consortium, Bethesda, MD, ¹⁷National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a genetically complex inflammatory condition. It can be marked by severe systemic inflammation that resembles the hereditary periodic…
Abstract Number: 1704 • ACR Convergence 2022
Interaction of Macrophages and Natural Killer Cells in Pathogenesis of HIV-1-Associated Inflammatory Arthritis
Can Sungur¹, Gao Hongbo¹, Li-ping Yang², Liang Shan¹ and Wayne Yokoyama³, ¹Washington University, St. Louis, MO, ²Washington University in St. Louis, St. Louis, MO, ³Washington University School of Medicine, St. Louis, MO
Background/Purpose: Human immunodeficiency virus (HIV) remains a significant life-threatening agent and burden on public health. Lesser studied and understood aspects of HIV infections include HIV-associated…
Abstract Number: 0621 • ACR Convergence 2022
Altered Immunological Circadian Rhythms and the Effect of Treatment with Glucocorticoids on Circadian Rhythms of Immune Cells in Patients with Rheumatoid Arthritis: Bring Back the Rhythm
Siska Wilantri¹, Cindy Strehl¹, Dimas Abdirama¹, Timo Gaber¹, Robert Biesen² and Frank Buttgereit¹, ¹Charité Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin / DRFZ Berlin, Berlin, Germany, ²Charité Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany
Background/Purpose: Clinical symptoms of rheumatoid arthritis (RA), including pain, joint stiffness, and swelling, exhibit a distinct circadian rhythm that exacerbates in the early morning in…
Abstract Number: 1711 • ACR Convergence 2022
The Cellular Basis for Type I Interferon Production Following Ultraviolet Light Stimulated Cyclic-GMP-AMP Synthase Activation in the Skin
Jie An, Xizhang Sun, Lena Tanaka and Keith Elkon, University of Washington, Seattle, WA
Background/Purpose: SLE patients characteristically have a type I interferon (IFN-I) signature in peripheral blood cells and this same signature is prominent in lesional and non-lesional…
Abstract Number: 0661 • ACR Convergence 2022
Cutaneous Type I IFN Responses in Systemic Lupus Erythematosus Are Associated with Inflammatory Phenotype and Altered Wound Healing Function of Lupus Fibroblasts from Non-Lesional Skin
Lisa Abernathy-Close, Suzanne Shoffner-Beck, Annie Lu, Amanda Victory, Amy Hurst, Craig Dobry, Rachael Wasikowski, Johann Gudjonsson, Alex Tsoi and J. Michelle Kahlenberg, University of Michigan, Ann Arbor, MI
Background/Purpose: Cutaneous lupus erythematosus (CLE) is a heterogenous, disfiguring, and difficult-to-treat manifestation of systemic lupus erythematosus (SLE) with scar formation in CLE subtypes such as…
Abstract Number: 1730 • ACR Convergence 2022
T Cell-Macrophage Interactions Play a Critical Role in a Mouse Model of Histidyl-tRNA Synthetase-Induced Myositis
Daniel Reay¹, Ying Wang², Wael Jarjour³, Paula Clemens¹ and Dana Ascherman⁴, ¹University of Pittsburgh School of Medicine, Pittsburgh, PA, ²University of Miami Miller School of Medicine, Miami, FL, ³The Ohio State University, Columbus, OH, ⁴University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Histidyl-tRNA synthetase (HRS) is a key target of antigen-specific B and T cell responses in the anti-synthetase syndrome. Despite a clear role for aberrant…
Abstract Number: 0806 • ACR Convergence 2022
Long-term Effectiveness of Sublingual Polybacterial Vaccines in Patients with Systemic Autoimmune Disease and Active Pharmacological Immunosuppression
Inés Pérez Sancristóbal¹, María Paula Álvarez Hernández², Silvia Sanchez - Ramon³, Cristina Martinez⁴, Eduardo de la Fuente³, Concepcion Morado⁴, Dalifer Freites Nuñez², Benjamin Fernandez Gutierrez⁵ and Gloria Candelas⁴, ¹Instituto de Investigación Sanitaria San Carlos, Rheumatology, Madrid, Spain, ²Hospital Clínico San Carlos, Madrid, Spain, ³Department of Clinical Immunology, IML and IdSSC, Hospital Clínico San Carlos, Madrid, Spain, ⁴Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, ⁵Hospital Clínico San Carlos, Rheumatology Deparment, Madrid, Spain
Background/Purpose: Infections in patients with systemic autoimmune disease (SAD) are associated with immune dysfunction, disease activity and immunosuppression. Synthetic and biologic disease-modifying drugs (DMARDs) have…
Abstract Number: 1736 • ACR Convergence 2022
IL-23 Signaling Induces Autoimmune Disease Genes in Mucosal-Associated Invariant T Cells
Tharshana Stephen¹, Ambre Dangien¹, Claire Leloup¹, Ikram Mezghiche¹, Laetitia Camard¹, Hanan Yahia-Cherbal¹, Vincent Guillemot², Natalia Pietrosemoli¹, Hélène Lopez-Maestre¹, Julie Marsande¹, Milena Hasan¹, Dan Cua³, Anne Fourie⁴, Carrie Greving⁵, Raphaelle Parker⁶, Barbara Joyce Shaikh⁷, Bénédicte Oulès⁸, Sarah Guégan⁸, Sélim Aractingi⁸, Elisabetta Bianchi¹ and Lars Rogge¹, ¹Institut Pasteur, Paris, France, ²Institut Pasteur, Paris, Ile-de-France, France, ³Janssen Research and Development, LLC, Spring House, PA, ⁴Janssen Research & Development, LLC, San Diego, CA, USA, San Diego, CA, ⁵Janssen Research & Development, LLC, San Diego, CA, USA, San Diego, ⁶Janssen Research & Development, Janssen-Cilag, Paris, France, ⁷Janssen Research & Development, LLC, San Diego, CA, ⁸Hôpital Cochin, AP-HP, Paris, France
Background/Purpose: Genome-wide association studies and mouse models of autoimmune disease have demonstrated an important role of the IL-23 signaling pathway in the pathogenesis of axial…
Abstract Number: 0975 • ACR Convergence 2022
Modulation of T, B, and Innate Cell-Associated Pharmacodynamic Biomarkers in a Phase 3 Trial of Anifrolumab in Moderate to Severe SLE
Paul Newcombe¹, Richard A. Furie², Yoshiya Tanaka³, Wendy White⁴, Dominic Sinibaldi⁴, Philip Brohawn⁴, Mark Lazarus¹, Nicola Ferrari¹, Raj Tummala⁴, Hussein Al-Mossawi¹, Andre Nogueria da Costa⁵, Daniel Muthas⁵ and Madhu Ramaswamy⁴, ¹AstraZeneca, Cambridge, United Kingdom, ²Northwell Health, Great Neck, NY, ³University of Occupational and Environmental Health, Kitakyusyu Fukuoka, Japan, ⁴AstraZeneca, Gaithersburg, MD, ⁵AstraZeneca, Gothenburg, Sweden
Background/Purpose: SLE has been associated with expression of type I IFN gene signatures (IFNGS).1 Anifrolumab, a monoclonal antibody binding IFN receptor subunit 1, inhibits downstream…
Abstract Number: 1853 • ACR Convergence 2022
A Comparitive Study of NLRP3- and NLRP12-autoinflammatory Disease
Mark Yun, Brianne Navetta-Modrov, Hafsa Nomani, Jie Yang and QingPing Yao, Stony Brook University, Stony Brook, NY
Background/Purpose: NLRP3-associated autoinflammatoy disease (NLRP3-AID) and NLRP12-AID are rare autosomal dominant diseases. FACS1(familial cold autoinflammatory syndrome type 1), a subset of NLRP3-AID, is thought to…
Abstract Number: 1142 • ACR Convergence 2022
The Lupus Risk Allele Associated Xq28 Haplotype Identifies the Molecular Endotype of a Cohort of European SLE Patients with Enhanced IRAK1 Signaling
Rheyanna Clemens¹, Tyson Dawson¹, Katherine Owen², Amrie Grammer³ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²RILITE, Crozet, VA, ³AMPEL LLC, Charlottesville, VA
Background/Purpose: Previous genetic association studies identified a 9 gene region of Xq28 containing IRAK1 as a risk locus for SLE. IRAK1 plays key roles downstream…
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: 1177 • ACR Convergence 2022
Identification of a New Type of Pro-phagocytic Macrophages in Patients with Systemic Sclerosis
Amela Hukara¹, Tracy Tabib², Michal Rudnik¹, Oliver Distler³, Przemyslaw Blyszczuk¹, Robert Lafyatis² and Gabriela Kania¹, ¹Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zürich, Switzerland, ²Division of Rheumatology and Clinical Immunology, Department of Medicine, University of Pittsburgh, Pittsburgh, PA, ³Department of Rheumatology, University Hospital Zurich, University of Zurich, Zürich, Switzerland
Background/Purpose: Phagocytosis is a crucial cellular process, which under certain immuno-pathological conditions can be activated in macrophages in an uncontrolled manner. Biomarker studies have implicated…
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…

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