Abstracts tagged "genetics"

Abstract Number: 0302 • ACR Convergence 2024
TNFAIP3 Loss-of-function and Missense Mutations Demonstrate Clinically Diverse Presentations: A Multi-center Cohort Experience
Elizabeth Kairis¹, Manuel Carpio Tumba¹, Urekha Karri¹, Magdalena Harasimowicz¹, Megan Cooper², Lance Peterson², Priscilla Campbell-Stokes³, Juan Carlos Aldave-Becerra⁴, Ana Beatriz Muñoz-Urribarri⁴ and Daniella Schwartz¹, ¹University of Pittsburgh, Pittsburgh, PA, ²Washington University School of Medicine, St. Louis, MO, ³Child Health Service, Hutt Hospital, National Pediatric Rheumatologic Service, Te Whatu Ora, New Zealand, ⁴Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru
Background/Purpose: A20 is a critical anti-inflammatory protein encoded by the TNFAIP3 (tumor necrosis factor alpha-induced protein 3) gene. A20 negatively regulates multiple anti-inflammatory pathways including…
Abstract Number: 0916 • ACR Convergence 2024
Isocitrate Dehydrogenase 2 Mutations Are Associated with Autoimmune Rheumatologic Diseases in Chronic Myelomonocytic Leukemia
Mahmut Kaymakci¹, Anuya Natu², Clifford Csizmar², Terra Lasho², Christy Finke², Abhishek Mangaonkar¹, Aref Al-Kali¹, Hassan Alkhateeb¹, Jenna Fernandez², Matthew Koster¹, Cornelia Weyand², Mrinal Patnaik¹ and Kenneth Warrington¹, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic, Rochester
Background/Purpose: Somatic mutations occurring in the hematopoietic system can be associated with concomitant hematologic and inflammatory diseases. Chronic myelomonocytic leukemia (CMML) is a hematologic neoplasm…
Abstract Number: 1780 • ACR Convergence 2024
Next Generation Sequencing Analysis Reveals Complex Genetic Architecture of Childhood-onset Systemic Lupus Erythematosus
Laura Lewandowski¹, Linda Hiraki², Christiaan Scott³, Ana Barrera-Vargas⁴, Diana Gómez-Martin⁵, Michael Ombrello⁶, Ivona Aksentijevich⁷, Zuoming deng⁸, Anthony Musolf⁹, Subrata Paul¹⁰, Dan Hupalo¹¹, Clifton Dalgard¹¹, Sarfaraz Hasni¹², Earl Silverman¹³ and Mariana Kaplan¹⁴, ¹NIAMS, NIH, Bethesda, MD, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Pediatric Rheumatology, Children’s Hospital of Eastern Ontario and University of Ottawa, Ottawa, ON, Canada, ⁴Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de México, Federal District, Mexico, ⁵INCMNSZ, Mexico, Distrito Federal, Mexico, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD, ⁷National Human Genome Research Institute, NIH, Bethesda, MD, ⁸National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁹Computational and Statistical Genomics Branch, NHGRI, NIH, Baltimore, MD, ¹⁰Collaborative Bioinformatics Resource, NIAID, NIH, Bethesda, MD, ¹¹The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, ¹²National Institutes of Health, Bethesda, MD, ¹³Silverman, Toronto, ON, Canada, ¹⁴NIAMS/NIH, Bethesda, MD
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a potentially life-threatening autoimmune disease. Childhood-onset SLE (cSLE) patients have younger disease onset and more severe disease than adults,…
Abstract Number: 2516 • ACR Convergence 2024
Exome-Wide Rare Variant Association Study of Takayasu’s Arteritis
Yiming Luo¹, Zuoming deng², Kaitlin Quinn³, Keith Sikora⁴, Daniel Kastner⁵, Krzysztof Kiryluk¹, Amr Sawalha⁶, Peter Merkel⁷ and Peter Grayson⁸, and the Vasculitis Clinical Research Consortium, ¹Columbia University Irving Medical Center, New York, NY, ²National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁴National Institutes of Health, Bethesda, MD, ⁵National Human Genome Research Institute, Bethesda, MD, Bethesda, MD, ⁶University of Pittsburgh, Pittsburgh, ⁷University of Pennsylvania, Philadelphia, PA, ⁸National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD
Background/Purpose: Takayasu’s arteritis (TAK) is a rare inflammatory disease primarily involving the aorta and its major branches. Multiple genetic association studies on common variants in…
Abstract Number: 0553 • ACR Convergence 2024
Analyzing the Utilization of HLA-B27 Testing in a Large Rural Health System: Implications for Diagnostic Appropriateness
Sanjeev Shrestha¹, Angela Bobak², Idorenyin Udoeyo³, Pradeep Puri⁴, Jordan Law⁵ and David Bulbin⁶, ¹Geisinger Medical Center, Bloomsburg, PA, ²Geisinger Medical Center Internal Medicine Residency, Danville, PA, ³Geisinger Medical Center, Danville, PA, ⁴Geisinger Medical Center, Danville, ⁵Geisinger Health System, Danville, ⁶Geisinger Health System, Danville, PA
Background/Purpose: Human leukocyte antigen (HLA)-B27 is linked to spondyloarthropathies (SpA), uveitis, and inflammatory bowel disease (IBD). By analyzing ordering diagnoses and final diagnoses during patient…
Abstract Number: 0917 • ACR Convergence 2024
Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Mutations in Familial Mediterranean Fever
Aysima Hacisuleyman¹, Ahmet Gul² and Burak Erman³, ¹Department of Computational Biology, University of Lausanne, Lausanne, Switzerland, ²Division of Rheumatology, Department of Internal Medicine, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, Istanbul, Turkey, ³3Chemical and Biological Engineering, Koc University, Istanbul, Turkey
Background/Purpose: Predicting the pathogenicity of amino acid substitutions is crucial for understanding the functional consequences of genetic variations. Several computational methods frequently used so far…
Abstract Number: 1782 • ACR Convergence 2024
DOCK2 Mutations and Hyper-Inflammatory Syndromes
Randy Cron, Mingce Zhang and Prescott Atkinson, University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: Cytokine storm syndromes (CSS) are frequently fatal hyper-inflammatory complications of a variety of oncologic, rheumatic, and infectious diseases. Many patients with CSS possess heterozygous…
Abstract Number: 2533 • ACR Convergence 2024
Genome-wide Association of Rheumatoid Arthritis in the African Ancestry Identifies HLA Amino Acid Polymorphisms of Risk
Harrison Zhang¹, Saori Sakaue², Daniel Posner³, Jing Cui⁴, Dorris Yang⁵, Ashley Budu-Aggrey⁶, Yuk-Lam Ho³, Lauren Costa³, Rachael Matty³, Selena Huang¹, Paul Monach⁷, Kazuyoshi Ishaigaki⁸, Monika Maripuri⁷, Connor Melley⁷, Vidisha Tanukonda⁷, Rahul Sangar³, Gregory McDermott⁹, Mary Jeffway¹, Vincent Laufer¹⁰, Yukinori Okada¹¹, Ian Scott¹², S. Louis Bridges¹³, Kelly Cho³, Chuan Hong¹⁴, Jennifer E. Huffman¹⁵, Tianxi Cai¹⁶, Soumya Raychaudhuri¹ and Katherine Liao¹, and the VA Million Veteran Program, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Cambridge, MA, ³U.S. Department of Veterans Affairs, Boston, MA, ⁴Brigham Women's Hospital, Boston, MA, ⁵Harvard Medical School, Cambridge, MA, ⁶Bristol Medical School, Manchester, United Kingdom, ⁷VA Boston Healthcare System, Boston, MA, ⁸Keio University School of Medicine, Tokyo, Japan, ⁹Brigham and Women's Hospital, Brookline, MA, ¹⁰Michigan Medicine, Birmingham, AL, ¹¹Graduate School of Medicine, the University of Tokyo, Tokyo, Japan, ¹²School of Medicine, Keele University, Keele, United Kingdom, ¹³Division of Rheumatology, Weill Cornell Medical College, New York, NY, ¹⁴Duke University, Durham, NC, ¹⁵VA Boston Healthcare System, Palo Alto, ¹⁶Harvard T.H. Chan School of Public Health, Boston, MA
Background/Purpose: The association between RA and the MHC is largely explained by five amino acid (AA) positions: DRB1 positions 11, 13, 71, and 74, HLA-B…
Abstract Number: 0567 • ACR Convergence 2024
Alteration of JAK-STAT Signaling in an Axial Spondyloarthritispatient with TYK2 Variants
Pankaj Sharma¹, Fatemeh Navid¹, Norman Watts¹, Stephen Brooks² and Robert Colbert², ¹National Institutes of Health, Bethesda, MD, ²NIH/NIAMS, Bethesda, MD
Background/Purpose: Tyrosine kinase 2 (TYK2) is a member of the Janus kinase family that associates with the cytoplasmic domain of type I/II cytokine receptors and…
Abstract Number: 0981 • ACR Convergence 2024
The Causal Effect of Sex Hormone-related Drugs on the Risk of Osteoarthritis – A Mendelian Randomization Study
Xing Xing¹, Ziyuan Shen², Jianan Zhu³, Yining Wang², Xingzhong Jin⁴ and Guoqi Cai², ¹Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Baltimore, MD, ²Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, China (People's Republic), ³Department of Biostatistics, School of Public Health, New York University, New York, NY, ⁴Centre for Big Data Research in Health, University of New South Wales, Sydney, Australia
Background/Purpose: Osteoarthritis (OA) is a prevalent joint disorder characterized by joint pain, disability, and the loss of articular cartilage, imposing a significant burden on patients…
Abstract Number: 2032 • ACR Convergence 2024
A Systematic Review of Treatment Strategies in VEXAS Syndrome
Aviraag Vijaya Prakash¹, Jose Garcia², Anurag Goel³, Vinit Gilvaz⁴ and Raveena Midha⁵, ¹Saint Vincent Hospital, Department of Internal Medicine, Worcester, MA, ²Brown University, East Greenwich, RI, ³The Warren Alpert Medical School of Brown University, Providence, RI, ⁴The Warren Alpert Medical School of Brown University, East Providence, RI, ⁵Kent Hospital/Brown University, Warwick, RI
Background/Purpose: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, first described in 2020, is an autoinflammatory condition characterized by somatic mutations in the UBA1 gene.…
Abstract Number: 2538 • ACR Convergence 2024
HLA-DRB1 Rheumatoid Arthritis (RA) Risk Alleles Preferentially Select TRBJ2-3-containing CD4 T Cells in RA Patients
Amit Lakhanpal¹, Kazuyoshi Ishigaki², Anvita Singaraju¹, Alejandro Kochen³, Miriam Fein¹, Soumya Raychaudhuri⁴ and Laura Donlin¹, ¹Hospital for Special Surgery, New York, NY, ²Department of Microbiology and Immunology, Keio University School of Medicine, Tokyo, Japan; Keio University Human Biology-Microbiome-Quantum Research Center (WPI-Bio2Q);; Laboratory for Human Immunogenetics, Riken Center for Integrative Medical Sciences, Bunkyo-ku, Tokyo, Japan, ³Yale School of Medicine, New Haven, CT, ⁴Brigham and Women's Hospital, Boston, MA
Background/Purpose: The largest genetic risk factor for RA localizes to the MHC Class II HLA-DRB1 gene, which encodes the machinery for antigen presentation to CD4…
Abstract Number: L01 • ACR Convergence 2023
Analysis of 245,388 Diverse Participants in the NIH All of Us Cohort Identifies VEXAS Resiliency in UBA1 M41L Somatic Mutation Carriers
Robert Corty¹ and Alexander Bick², ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University, Nashville, TN
Background/Purpose: VEXAS syndrome is a recently-discovered systemic auto-inflammatory disease caused by somatic mutation at position 41 in the X-linked gene UBA1.1 First, 25 older men…
Abstract Number: L02 • ACR Convergence 2023
Mutational Analysis of UNC93B1 Identifies Regulatory Regions Mutated in Human SLE
John Huizar¹, Victoria Rael², Julian Yano², Leianna Slayden³, Madeleine Weiss⁴, Robert Saxton⁴, Bo Liu⁵, Olivia Majer⁶ and Gregory Barton⁷, ¹UCSF, San Francisco, CA, ²Division of Immunology and Molecular Medicine, Department of Molecular and Cell Biology, UC Berkeley, Berkeley, CA, ³HHMI at UC Berkeley, Berkeley, CA, ⁴UC Berkeley, Berkeley, CA, ⁵Institut Pasteur of Shanghai, Chinese Academy of Sciences, Shangai, China, ⁶Max Planck Institute for Infection Biology, Berlin, Germany, ⁷UC Berkeley / HHMI, Berkeley, CA
Background/Purpose: Endosomal nucleic acid-sensing toll-like receptors 3, 7 and 9 are key innate immune sensors of dsRNA, ssRNA and ssDNA, respectively, whose activities must be…
Abstract Number: L03 • ACR Convergence 2023
Efficacy and Safety of Targeted Therapies in VEXAS Syndrome: Retrospective Study from the French VEXAS Group
Jerome Hadjadj¹, Yann Nguyen¹, Dalila Mouloudji¹, Rim Bourguiba¹, Mael Heiblig², Aloui Hassina¹, Valentin Lacombe³, Samuel Ardois⁴, Corrado Campochiaro⁵, Alexandre Maria⁶, Thibault Comont⁷, Estibaliz Lazaro⁸, Francois Lifermann⁹, Guillaume Le Guenno¹⁰, Herve Lobbes¹⁰, Roderau Outh¹¹, Julien Campagne¹², Cyrille Coustal⁶, Alice Garnier¹³, Yvan Jamilloux², Aurore Meyer¹⁴, Noemie Abisror¹⁵, Olivier Kosmider¹, Vincent Jachiet¹, Olivier FAIN¹⁶, Benjamin Terrier¹⁷, Arsene Mekinian¹ and Sophie Georgin-Lavialle¹⁸, ¹APHP, Paris, France, ²Lyon Hospital, Lyon, France, ³Angers Hospital, Angers, France, ⁴Rennes Hospital, Rennes, France, ⁵San Raffaele Scientific Institute, Milan, Italy, ⁶Montpellier Hospital, Montpellier, France, ⁷Oncopole Toulouse, Toulouse, France, ⁸Bordeaux Hospital University, Pessac, France, ⁹Dax Hospital, Dax, France, ¹⁰Clermont Hospital, Clermont Ferrand, France, ¹¹Perpignan Hospital, Perpignan, France, ¹²Hpital Robert Schuman, Metz, France, ¹³Nantes Hospital, Nantes, France, ¹⁴Strasbourg Hospital, Strasbourg, France, ¹⁵Internal Medicine Saint Antoine Hospital, Paris, France, ¹⁶Hopital Saint Antoine APHP, Paris, France, ¹⁷Cochin Hospital, Paris, France, ¹⁸AP-HP, Tenon hospital, Paris, France
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a monogenic disease of adults due to acquired somatic mutations of the UBA1 gene. Patients…

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