Abstracts tagged "genetics"

Abstract Number: 1166 • ACR Convergence 2020
Use of Rituximab to Treat COPA Syndrome: A Multi-Institutional Cohort
Leigh Stubbs¹, Isabella Osuna², Tarin Bigley³, Michal Cidon⁴, Kristen Mengwasser⁵, Simon Helfgott⁶, Marietta DeGuzman⁷, Manuel Silva-Carmona⁸ and Tiphanie Vogel⁹, ¹Baylor College of Medicine, Houston, TX, ²Department of Pediatrics, Division of Rheumatology, Baylor College of Medicine and Texas Children’s Hospital, Houston, Texas, USA, Houston, TX, ³Washington University in St. Louis, Saint Louis, MO, ⁴CHLA, Los Angeles, CA, ⁵Department of Medicine, Division of Rheumatology, Immunology, and Allergy, Harvard Medical School and Brigham and Women’s Hospital, Boston, Massachusetts, USA, Boston, MA, ⁶BWH- HMS, Boston, MA, ⁷Baylor College of Medicine, Houston, ⁸Department of Pediatrics, Division of Pulmonology Medicine, Baylor College of Medicine and Texas Children’s Hospital, Houston, Texas, USA, Houston, TX, ⁹Baylor College of Medicine/Texas Children's Hospital, Houston, TX
Background/Purpose: Coatomer protein complex subunit α (COPA) syndrome is a rare genetic multisystem autoimmune disorder inherited in an autosomal dominant manner. Onset typically occurs in…
Abstract Number: 1956 • ACR Convergence 2020
Dysregulated Expression of the Long Non-coding RNA, LINC01871, Implicated in Sjögren’s Syndrome Pathogenesis
Michelle Joachims¹, Bhuwan Khatri¹, Kandice Tessneer², Anna Stolarczyk¹, Graham Wiley¹, Astrid Rasmussen¹, Joel Guthridge¹, Judith James³, R. Scofield¹, Kathy Sivils¹, Indra Adrianto⁴ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Oklahoma Medical Research Foundation, Oklahoma City, ³Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK, ⁴Henry Ford Health System, Detroit, MI
Background/Purpose: Sjögren’s syndrome (SS) is an autoimmune disease characterized by inflammatory destruction of the exocrine glands. Long non-coding RNAs (lncRNAs) are a functionally diverse class…
Abstract Number: 0298 • ACR Convergence 2020
Local Genetic Ancestry Associations with Clinical Features of Systemic Lupus Erythematosus
Olivia Solomon¹, Cristina Lanata², Cameron Adams¹, Joanne Nititham³, Kim Taylor³, Sharon Chung³, Bernardo Pons-Estel⁴, Teresa Tusié-Luna⁵, Betty Tsao⁶, Eric Morand⁷, Marta Alarcón-Riquelme⁸, Lisa Barcellos¹ and Lindsey Criswell⁹, ¹University of California, Berkeley, Berkeley, CA, ²UCSF, San Francisco, CA, ³University of California, San Francisco, San Francisco, CA, ⁴Centro Regional de Enfermedades Autoinmunes y Reumáticas (GO-CREAR), Rosario, Santa Fe, Argentina, ⁵Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran and Instituto de Investigaciones Biomédicas de la Universidad Nacional Autónoma de Mexico, Mexico City, Mexico, ⁶Medical University of South Carolina, Charleston, ⁷Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Australia, ⁸Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica, Granada (GENYO), Granada, Spain, ⁹Rosalind Russell/Ephraim P. Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, CA
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease with heterogeneous clinical manifestations which are known to vary in severity by race. Health disparities in…
Abstract Number: 1194 • ACR Convergence 2020
MUC5B Promoter Variant rs35705950 and Risk Stratification for Rheumatoid Arthritis – Interstitial Lung Disease
Pierre-Antoine Juge¹, Fabienne Louis-Sidney², Benjamin Granger³, Joanna Kedra⁴, Marie-Pierre Debray⁵, Esther Ebstein¹, Raphaël Borie⁶, Arnaud Constantin⁷, Bernard Combe⁸, Rene-Marc Flipo⁹, Xavier Mariette¹⁰, Olivier Vittecoq¹¹, Alain Saraux¹², Guillermo Carvajal Alegria¹³, Jean Sibilia¹⁴, Francis Berenbaum¹⁵, Caroline Kannengiesser¹⁶, Bruno Crestani⁶, Catherine Boileau¹⁶, Bruno Fautrel¹⁷ and Philippe Dieude¹⁸, ¹Université de Paris, Service de Rhumatologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, ²Service de Rhumatologie, CHU de Fort de France, Martinique, France, Fort de France, France, ³Département de Biostatistiques, Santé Publique et Information Médicale, Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Paris, France, ⁴Sorbonne Université, Institut Pierre Louis d'Epidémiologie et de Santé Publique, UMR S1136, Paris, France, Paris, France, ⁵Université de Paris, Service de Radiologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, ⁶Université de Paris, Service de Pneumologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, ⁷Hospital Pierre Paul Riquet, Toulouse, France, ⁸University of Montpellier, Montpellier, France, ⁹Lille University Hospital, Lille, France, ¹⁰Paris-Sud University, Rueil-Malmaison, France, ¹¹University Hospital of Rouen, Rouen, France, ¹²Department of Rheumatology, UBO, CHU, INSERM 1227 (LBAI), Brest, France, ¹³CHU de Brest, Service de Rhumatologie, Brest, France, ¹⁴CHU Strasbourg, Service de Rhumatologie, Strasbourg, France, ¹⁵AP-HP, Hôpital Saint-Antoine, Service de Rhumatologie, Centre de Recherche Saint-Antoine, INSERM UMR_S 938,Sorbonne Université, Paris, 75012, France, Paris, France, ¹⁶Université de Paris, Hôpital Bichat, Service de Génétique, AP-HP, Paris, Paris, France, ¹⁷Sorbonne University, INSERM, IPLES; Pitié-Salpêtrière Hospital, Paris, Ile-de-France, France, ¹⁸Université de Paris, Service de Rhumatologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, Ile-de-France, France
Background/Purpose: Interstitial lung disease (ILD) is an extra-articular manifestation of rheumatoid arthritis (RA) detected in 20 to 60% of patients with RA on high-resolution computed-tomography…
Abstract Number: 0299 • ACR Convergence 2020
The Minor Protective Allele at rs1876453 Is Associated with Increased Age of Onset of Systemic Lupus Erythematosus
Ani Oganesyan¹, Jennifer Kelly², Stuart Glenn², Adam Adler², Adrienne Williams³, Mary Comeau⁴, Julia Ziegler⁵, Miranda Marion⁵, Marta Alarcón-Riquelme⁶, Graciela Alarcón⁷, Juan-Manuel Anaya⁸, Sang-Cheol Bae⁹, Dam Kim⁹, Lee Hye-Soon⁹, Lindsey Criswell¹⁰, Barry Freedman¹¹, Gary Gilkeson¹², Joel Guthridge¹³, Chaim Jacob¹⁴, Judith James¹⁵, Diane Kamen¹⁶, Joan Merrill¹⁷, Kathy Moser Silvis¹⁸, Timothy Niewold¹⁹, Michelle Petri²⁰, Rosalind Ramsey-Goldman²¹, John Reveille²², Hal Scofield²³, Anne Stevens²⁴, Luis Vilá²⁵, Timothy Vyse²⁶, Kenneth Kaufman²⁷, John Harley²⁸, Carl Langefeld⁵, Patrick Gaffney², Elizabeth Brown²⁹, Jeffrey Edberg⁷, Robert Kimberly⁷, Betty Tsao¹², Daniela Ulgiati³⁰, Kenneth Jones³¹ and Susan Boackle³², ¹Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, ²Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Department of Biostatistical Sciences and Center for Public Health Genomics Wake Forest School of Medicine, Winston-Salem,, NC, ⁴Department of Biostatistical Sciences and Center for Public Health Genomics, Wake Forest School of Medicine; MC Analytics, Winston-Salem, NC, ⁵Department of Biostatistical Sciences and Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, NC, ⁶Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica, Granada (GENYO), Granada, Spain, ⁷Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁸Center for Autoimmune Diseases Research (CREA), Universidad del Rosario, Bogotá, Colombia, ⁹Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Republic of Korea, ¹⁰Rosalind Russell/Ephraim P. Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, CA, ¹¹Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem,, NC, ¹²Division of Rheumatology, Medical University of South Carolina, Charleston, SC, ¹³Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oaklahoma, OK, ¹⁴Department of Medicine, University of Southern California, Los Angeles, CA, ¹⁵Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK, ¹⁶Medical University of South Carolina, Charleston, SC, ¹⁷Department of Clinical Pharmacology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹⁸Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ¹⁹Colton Center for Autoimmunity, NYU School of Medicine, New York, NY, ²⁰Johns Hopkins University School of Medicine, Baltimore, ²¹Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, ²²Department of Internal Medicine, University of Texas, Houston, TX, ²³Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation; Department of Medicine, University of Oklahoma Health Sciences Center; US Department of Veterans Affairs Medical Center, Charleston, SD, ²⁴Janssen Pharmaceuticals, Spring House, PA, ²⁵Division of Rheumatology, Department of Medicine, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico, ²⁶Division of Genetics and Molecular Medicine and Immunology, King’s College, London, United Kingdom, ²⁷Cincinnati Children’s Hospital Medical Center;US Department of Veterans Affairs Medical Center, Cincinnati, OH, ²⁸Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH, ²⁹Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, ³⁰School of Pathology and Laboratory Medicine, Centre for Genetic Origins of Health and Disease, The University of Western Australia, Crawley, Australia, ³¹Harold Hamm Diabetes Center, University of Oklahoma Health Science Center, Oklahoma City, OK, ³²Division of Rheumatology, University of Colorado School of Medicine; Denver Veterans Affairs Medical Center, Aurora, CO
Background/Purpose: Systemic lupus erythematosus (SLE) is a clinically heterogenous autoimmune disease characterized by autoantibody- and complement-mediated inflammatory damage to multiple organ systems. We previously showed…
Abstract Number: 1195 • ACR Convergence 2020
MUC5B rs35705950 and Rheumatoid Arthritis Associated Interstitial Lung Disease Progression
Pierre-Antoine Juge¹, Joshua Solomon², Romain Garofoli³, Joyce S. Lee⁴, Fabienne Louis-Sidney⁵, Esther Ebstein¹, Jorge Rojas-Serrano⁶, Montserrat I. Gonzalez-Perez⁶, Mayra Mejia⁶, Ivette Buendia-Roldan⁶, Ramces Falfan-Valencia⁷, Enrique Ambrocio-Ortiz⁷, Effrosyni Manali⁸, Spyros A. Papiris⁸, Theofanis Karageorgas⁹, Dimitrios Boumpas⁹, Katarina Antoniou¹⁰, Coline H.M. van Moorsel¹¹, Joanne van Der Vis¹¹, Yaël A. de Man¹¹, Jan C. Grutters¹¹, Caroline Kannengiesser¹², Raphaël Borie¹³, Lidwine Wemeau-Stervinou¹⁴, Rene-Marc Flipo¹⁵, Hilario Nunes¹⁶, Yurdagul Uzunhan¹⁷, Dominique Valeyre¹⁸, Nathalie Saidenberg Kermanac'h¹⁹, Marie-Christophe Boissier²⁰, Christophe Richez²¹, Thierry Schaeverbeke²², Tracy J. Doyle²³, Paul Wolters²⁴, Marie-Pierre Debray²⁵, Catherine Boileau¹², Raphaël Porcher²⁶, Bruno Crestani¹³, David A. Schwartz⁴ and Philippe Dieude²⁷, ¹Université de Paris, Service de Rhumatologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, ²National Jewish Health, Denver, CO, ³Hôpital Cochin, Service de Rééducation, Paris, Paris, France, ⁴Department of Medicine, University of Colorado School of Medicine, Aurora, CO, USA, Aurora, CO, ⁵Service de Rhumatologie, CHU de Fort de France, Martinique, France, Fort de France, France, ⁶Interstitial Lung Disease & Rheumatology Unit, Instituto Nacional de Enfermedades Respiratorias, Ismael Cosío Villegas, México City, México, Mexico, Mexico, ⁷HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas. Mexico City, Mexico, Mexico, Mexico, ⁸2nd Pulmonary Medicine Department, University Hospital of Athens "Attikon", National and Kapodistrian University of Athens, Greece, Athens, Greece, ⁹Rheumatology and Clinical Immunology Unit, 4th Department of Internal Medicine, University Hospital of Athens "Attikon", National and Kapodistrian University of Athens, Greece, Athens, Greece, ¹⁰PS Department of Respiratory Medicine & Laboratory of Molecular & Cellular Pneumonology, Faculty of Medicine, University of Crete, Crete, Greece, Heraklion, Greece, ¹¹St Antonius ILD center of excellence, St Antonius ziekenhuis, Nieuwegein, The Netherlands, Nieuwegein, Netherlands, ¹²Université de Paris, Hôpital Bichat, Service de Génétique, AP-HP, Paris, Paris, France, ¹³Université de Paris, Service de Pneumologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, ¹⁴CHRU de Lille, Service de Pneumologie et Immuno-Allergologie, Centre de compétence des maladies pulmonaires rares, FHU IMMINENT, Lille, France, Lille, France, ¹⁵Lille University Hospital, Lille, France, ¹⁶Department of Pulmonology, Hôpital Avicenne, APHP, Bobigny, France, Bobigny, France, ¹⁷Hôpital Avicennes, Service de Pneumologie, AP-HP, Bobigny, Bobigny, France, ¹⁸Hôpital Avicenne, Service de pneumologie, AP-HP, Bobigny, Bobigny, France, ¹⁹Hôpital Avicennes, Service de Rhumatologie, AP-HP, Bobigny, Bobigny, France, ²⁰Hôpital Avicenne, Service de Rhumatologie, AP-HP, Bobigny, Bobigny, France, ²¹Rheumatology Hospital, Pelligrin Hospital, Bordeaux University Hospital, Bordeaux, France, ²²CHU de Bordeaux, Service de Rhumatologie, Bordeaux, France, ²³Brigham and Women's Hospital, West Roxbury, MA, ²⁴University of California, San Francisco, San Francisco, CA, ²⁵Université de Paris, Service de Radiologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, France, ²⁶Centre d’Epidémiologie Clinique, AP-HP, Hôpital Hôtel-Dieu, F-75004 Paris, France, Paris, France, ²⁷Université de Paris, Service de Rhumatologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, Ile-de-France, France
Background/Purpose: Rheumatoid arthritis (RA) associated interstitial lung disease (ILD) and idiopathic pulmonary fibrosis (IPF) sharephenotypic and genotypic similarities. Recently, in a large international genetic association…
Abstract Number: 0301 • ACR Convergence 2020
Genetic Associations and Polygenic Risk Assessment in Incomplete Lupus Erythematosus
Matthew Slief¹, Jeremy Levin², Susan Macwana¹, Wade DeJager¹, Rebecka Bourn³, Swapan Nath³, Melissa Munroe⁴, Teresa Aberle¹, Patrick Gaffney⁵, Joan Merrill³, Judith James⁶ and Joel Guthridge¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²OU Medical Center, Oklahoma City, ³Oklahoma Medical Research Foundation, Oklahoma City, ⁴Oklahoma Medical Research Foundation/Progentec Diagnostics, Inc., Oklahoma City, OK, ⁵Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁶Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK
Background/Purpose: Patients with incomplete lupus erythematosus (ILE) have features of lupus, but have insufficient criteria for SLE classification. Some ILE patients transition to classified SLE,…
Abstract Number: 1305 • ACR Convergence 2020
Is the Occurrence of Acute Anterior Uveitis Linked Primarily to Ankylosing Spondylitis (AS) or to HLA-B27? Results of a 35-Year Follow-Up Family Study of a Swiss Cohort of Patients with AS
Sjef van der Linden¹, Peter Villiger², Zhixiu Li³, Matthew Brown⁴, Heinz Baumberger⁵, Hermine Zandwijk⁶ and Muhammad Khan⁷, ¹Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Bern, Switzerland, Mortroux, Belgium, ²Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Switzerland, Bern, Switzerland, ³Queensland University of Technology (QUT), Translational Genomics Group, School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Qld, Australia, Brisbane, Queensland, Australia, ⁴Guy's and St Thomas, NHS Foundation Trust and King's College London NIHR Biomedical Research Centre, King's College London, London, United Kingdom, London, United Kingdom, ⁵Retired, Flims, Tajikistan, ⁶Retired, Mortroux, Belgium, ⁷Case Western Reserve University, Cleveland OH, Westlake, OH
Background/Purpose: Approximately 30% of HLA-B27(+) patients with ankylosing spondylitis (AS) have one or more episodes of acute anterior uveitis (AAU), a condition that is also…
Abstract Number: 0372 • ACR Convergence 2020
Tumor Necrosis Factor-α Receptor 2 Polymorphisms and Response to TNF Inhibitor Therapy in Patients with Psoriatic Arthritis
Sarah Rasheed¹, MacKenzie Dunlap¹, Jennifer Harvey¹, Connery Brennan¹, Yuxuan Jin², Unnikrishnan Chandrasekharan³ and M. Elaine Husni², ¹Cleveland Clinic Foundation, Cleveland, ²Cleveland Clinic, Cleveland, OH, ³Cleveland Clinic Foundation, Cleveland, OH
Background/Purpose: Tumor necrosis factor inhibitors (TNFi) have significantly improved the prognosis of patients with psoriatic arthritis (PsA); however, approximately 40% of patients do not achieve…
Abstract Number: 1667 • ACR Convergence 2020
Development of Autoimmune Diseases and HLA Associations in Children with Neonatal Lupus and Their Unaffected Siblings
Amit Saxena¹, Aaron Garza Romero², Daniel Gratch³, Peter Izmirly⁴, Hannah Ainsworth⁵, Miranda Marion⁵, Carl Langefeld⁶, Robert Clancy⁷ and Jill Buyon⁸, ¹NYU School of Medicine, New York, ²Gonzaba Medical Group, San Antonio, ³NYU Langone Health, New York, ⁴Department of Medicine, New York University School of Medicine, New York, NY, ⁵Wake Forest School of Medicine, Winston-Salem, ⁶Wake Forest School of Medicine, Winston Salem, NC, ⁷New York University School of Medicine, New York, NY, ⁸Department of Medicine, NYU School of Medicine, New York, NY
Background/Purpose: Neonatal Lupus (NL) is a model of passively acquired autoimmunity conferred by exposure to maternal anti-Ro antibodies with major manifestations being congenital heart block…
Abstract Number: 0426 • ACR Convergence 2020
T-Cell Receptor (TCR) Sequencing Reveals Decreased Diversity and Clonotypic Expansion of T-cells in Relapsing Polychondritis (RP)
Emily Rominger¹, Sufia Bakshi², Emily Rose³, Marcela Ferrada³, Peter C. Grayson⁴, Robert Colbert⁵ and Keith Sikora⁶, ¹Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, ²National Institutes of Health, Bethesda, MD, ³Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁴Systemic Autoimmunity Branch, National Institutes of Health, NIAMS, Bethesda, MD, ⁵Pediatric Clinical Trials Unit and Office of Clinical Director, NIAMS, NIH, Bethesda, MD, ⁶National Institutes of Health Clinical Center, Bethesda, MD
Background/Purpose: Relapsing polychondritis (RP) is a rare, systemic inflammatory disease characterized by recurrent inflammation of cartilaginous structures, including the nose/ears, joints, and trachea. The etiology of…
Abstract Number: 1669 • ACR Convergence 2020
Genetics of Age at Diagnosis in Systemic Lupus Erythematosus
Raffaella Carlomagno¹, Fangming Liao², JingJing Cao², Dafna Gladman³, Marisa Klein-Gitelman⁴, Andrea Knight⁵, Deborah Levy¹, Karen Onel⁶, Andrew Paterson², Christine Peschken⁷, Janet Pope⁸, Zahi Touma⁹, Murray Urowitz¹⁰, Declan Webber¹, Joan Wither¹¹, Earl D. Silverman¹² and Linda Hiraki¹³, ¹Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ²Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ³Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ⁴Division of Rheumatology, Department of Pediatrics, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, ⁵Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁶Pediatric Rheumatology, Hospital for Special Surgery, New York, NY, ⁷Departments of Medicine and Community Health Sciences, University of Manitoba, Winnipeg, MB, Canada, ⁸Department of Medicine, University of Western Ontario, St. Joseph's Health Centre, London, ON, Canada, ⁹University of Toronto, Toronto, ON, Canada, ¹⁰University Health Network, University of Toronto, Toronto, ON, Canada, ¹¹University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University Health Network, Toronto, ON, Canada, ¹²Division of Rheumatology, The Hospital for Sick Children, Translational Medicine, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada, ¹³Division of Rheumatology, The Hospital for Sick Children, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada
Background/Purpose: Genome wide association studies (GWAS) have identified >90 SNPs associated with systemic lupus erythematosus (SLE) risk. However, there may be additional loci impacting the…
Abstract Number: 0471 • ACR Convergence 2020
Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients
Adriana de Jesus¹, Sofia Torreggiani², Bin Lin², Jacob Mitchell², Eric Karlins³, Andrew Oler³, Sara Alehashemi⁴, Dana Kahle⁵, Katelin R. Honer², Gema Souto Adeva², Eric Hanson⁶, Gina Montealegre Sanchez⁷, Amer Khojah⁸, Timothy Moran⁹, Eveline Wu⁹, Chris Scott¹⁰, Timothy Ronan Leahy¹¹, Emma Jane MacDermott¹¹, Orla Killeen¹², Thaschawee Arkachaisri¹³, Zoran Gucev¹⁴, Kathryn Phillippi¹⁵, Vafa Mammadova¹⁶, Gulnara Nasrullayeva¹⁶ and Raphaela Goldbach-Mansky¹⁷, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ³Bioinformatics and Computational Biosciences Branch/NIAID/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ⁵Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ⁶Indiana University School of Medicine, Indianapolis, IN, ⁷NIAID/NIH, Rockville, MD, ⁸Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ⁹UNC Chapel Hill, Chapel Hill, NC, ¹⁰University of Cape Town, Cape Town, South Africa, ¹¹Our Lady's Children's Hospital, Dublin, Ireland, ¹²National Centre for Paediatric Rheumatology, CHI at Crumlin, Dublin, Ireland, ¹³Duke-NUS Medical School, Singapore, Singapore, ¹⁴University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁵Akron Children’s Hospital, Akron, OH, ¹⁶Azerbaijan Medical University, Baku, Azerbaijan, ¹⁷Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: The Inhibitor of Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) is located on the X chromosome and encodes the NF-κB essential modulator (NEMO). Loss-of-function mutations…
Abstract Number: 1671 • ACR Convergence 2020
Identifying Rare Genetic Variants in Childhood-onset Monogenic Systemic Lupus Erythematosus
Melissa Misztal¹, Fangming Liao², Sergey Naumenko³, Andrea Knight⁴, Daniela Dominguez⁵, JingJing Cao², Declan Webber⁶, Bhooma Thiruvahindrapuram⁷, Deborah Levy⁶, Andrew Paterson², Earl D. Silverman⁸ and Linda Hiraki⁹, ¹Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Oakville, ON, Canada, ²Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ³The Centre for Computational Medicine, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada, ⁴Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁵Division of Rheumatology, The Hospital for Sick Children, Toronto, Canada, ⁶Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ⁷The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ⁸Division of Rheumatology, The Hospital for Sick Children, Translational Medicine, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada, ⁹Division of Rheumatology, The Hospital for Sick Children, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada
Background/Purpose: Among children diagnosed with systemic lupus erythematosus (SLE), there exists monogenic forms of SLE, where rare variants in a single gene lead to disease.…
Abstract Number: 0494 • ACR Convergence 2020
Genetic-epigenetic Interaction and the Relationship Between DNA Methylation Patterns and Disease Activity in a Longitudinal Cohort of Lupus Patients
Patrick Coit¹, Lourdes Ortiz-Fernandez², Emily Lewis³, W. Joseph McCune³, Kathleen Maksimowicz-McKinnon⁴ and Amr Sawalha², ¹University of Pittsburgh and University of Michigan, Pittsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA, ³University of Michigan, Ann Arbor, MI, ⁴Henry Ford Hospital, Detroit
Background/Purpose: Genetic factors and epigenetic dysregulation are implicated in the pathogenesis of lupus. We performed a longitudinal analysis of DNA methylation in lupus patients for…

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