Abstracts tagged "genetics"

Abstract Number: 0114 • ACR Convergence 2024
Rare Germline Variants in Complement Regulatory Genes in Antiphospholipid Antibody Positive Patients: Prospective Results from AntiPhospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION) Clinical Database and Repository (“Registry”)
Cécile Yelnik¹, shruti chaturvedi², Julien Labreuche³, Xiang-Zuo Pan², H Michael Belmont⁴, Nina Kello⁵, Paul Fortin⁶, David Branch⁷, Yu Zuo⁸, Rohan Willis⁹, Robert Brodsky², Jane Salmon¹⁰, Maria Laura Bertolaccini¹¹, Hannah Cohen¹², Michelle Petri¹³ and Doruk Erkan¹⁰, and on behalf of APS ACTION, ¹lille university, Lille, France, ²John Hopkins University, Baltimore, MD, ³Lille University Hospital, Lille, France, ⁴NYU Langone Health, New York, NY, ⁵Northwell Health, Brooklyn, NY, ⁶Centre ARThrite - CHU de Québec - Université Laval, Quebec, QC, Canada, ⁷University of Utah and Intermountain Healthcare, Salt Lake City, UT, ⁸University of Michigan, Ann Arbor, MI, ⁹University of Texas Medical Branch, Galveston, TX, ¹⁰Hospital for Special Surgery, New York, NY, ¹¹King's College London, London, United Kingdom, ¹²University College London Hospitals NHS Foundation Trust, London, United Kingdom, ¹³Johns Hopkins University School of Medicine, Timonium, MD
Background/Purpose: We previously reported that markers of complement activation, specifically elevated C4d levels and positive modified HAM (mHAM) test, are associated with a higher risk…
Abstract Number: 0912 • ACR Convergence 2024
Next-Generation Sequencing in Molecular Genetics of Adult-Onset Still’s Disease: Data from 23 Patients and Literature Review
Belén Atienza-Mateo¹, Diana Prieto-Peña¹, Eztizen Labrador-Sánchez², Natalia Palmou Fontana¹, Rafael Benito Melero-Gonzalez³, Fred Anton Pages⁴, Carmen Alvarez Reguera⁵, Nerea Paz-Gandiaga⁶ and Ricardo Blanco-Alonso⁷, ¹Division of Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Immunopathology group, Santander, Cantabria, Spain, ²Hospital General de La Rioja, Logroño, Spain, ³CHU Ourense, O Carballino, Spain, ⁴Complejo Asistencial De Segovia, Segovia, Spain, ⁵Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁶Department of Genetics, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain, ⁷Division of Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Immunopathology group, Santander, Spain
Background/Purpose: Molecular genetic techniques are becoming increasingly essential tools for the diagnosis of monogenic systemic autoinflammatory diseases (SAIDs). However, their role in the diagnosis of…
Abstract Number: 1778 • ACR Convergence 2024
A Novel Variant in IRAK2 Results in Immune Dysregulation in Systemic Juvenile Idiopathic Arthritis (sJIA)
Mariana Correia Marques¹, Brooke Boyd², Alana Platukus³, Elizabeth Schmitz², Hiroto Nakano², Faiza Naz⁴, Anthony Cruz¹, Stefania Dell'Orso⁴, Zuoming deng⁴ and Michael Ombrello⁵, ¹National Institutes of Health, Bethesda, MD, ²Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, Bethesda, MD, ³1Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, Bethesda, MD, ⁴National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD
Background/Purpose: Lung disease (LD) is poorly understood complication of Still’s disease with high fatality. HLA-DRB1*15 is a strong risk factor for the development of this…
Abstract Number: 2505 • ACR Convergence 2024
C5 Signaling Pathway Genes as Key Drivers of the Pathogenesis of IgA Vasculitis?
Joao Carlos Batista-Liz¹, Vanesa Calvo-Rio², María Sebastián Mora-Gil³, Ligia Gabrie-Rodriguez⁴, Rafael Gálvez Sánchez⁴, Belén Sevilla-Pérez⁵, José Luis Callejas⁶, María Teresa Leonardo⁷, Ana Peñalba⁷, Javier Narvaez-García⁸, Luis Martín-Penagos⁹, Luis Caminal-Montero¹⁰, PAZ COLLADO¹¹, Patricia Quiroga Colina¹², Esther Vicente-rabaneda¹³, Esteban Rubio¹⁴, Manuel León Luque¹⁵, Juan María Blanco-Madrigal¹⁶, Eva Galindez-Agirregoikoa¹⁷, Santos Castañeda¹³, Ricardo Blanco-Alonso¹⁸, Veronica Pulito-Cueto¹ and Raquel Lopez-mejias¹, ¹IDIVAL, Santander, Spain, ²Valdecilla Hospital, Santander, Cantabria, Spain, ³Immunopathology Group, IDIVAL, Santander, Spain, ⁴Immunopathology Group, IDIVAL. Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁵Division of Pediatrics, Hospital Universitario San Cecilio, Granada, Spain, ⁶Systemic Autoimmune Diseases Unit, Hospital Clinico San Cecilio, Instituto de Investigación Biosanitaria de Granada ibs.GRANADA, Granada, Spain, ⁷Division of Pediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁸Hospital Universitario de Bellvitge, Barcelona, Spain, ⁹Immunopathology Group, IDIVAL. Division of Nephrology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ¹⁰Internal Medicine Department, Hospital Universitario Central de Asturias, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain, ¹¹Hospital Universitario Severo Ochoa, MADRID, Spain, ¹²Division of Rheumatology, Hospital Universitario de La Princesa, Madrid, Spain, ¹³Hospital Universitario de La Princesa, Madrid, Spain, ¹⁴Division of Rheumatology, Hospital Universitario Virgen del Rocío, Sevilla, Spain, Sevilla, Spain, ¹⁵Division of Rheumatology, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Sevilla, Spain, ¹⁶Division of Rheumatology, Hospital Universitario de Basurto, Bilbao, Spain., Bilbao, Spain, ¹⁷BASURTO UNIVERSITY HOSPITAL, BILBAO, Spain, ¹⁸Division of Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Immunopathology group, Santander, Spain
Background/Purpose: Immunoglobulin A Vasculitis (IgAV) is an inflammatory disease caused by the accumulation of immune complexes of IgA in the walls of small blood vessels…
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.…

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