Abstracts tagged "genetics"

Abstract Number: 0904 • ACR Convergence 2024
Defining the Function of Disease Variants with CRISPR Editing and Multimodal Single Cell Sequencing
Yuriy Baglaenko¹, MIchelle Curtis², Majd Al Suqri³, Ryan Agnew³, Aparna Nathan⁴, Hafsa Mire⁴, Annelise Yoo Mah-Som³, David Liu⁵, Gregory Newby⁶ and Soumya Raychaudhuri³, ¹Cincinnati Children's Hospital, Cincinnati, OH, ²Broad Institute, Boston, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Harvard Medical School, Boston, MA, ⁵Broad Institute, Cambridge, MA, ⁶Johns Hopkins, Baltimore, MD
Background/Purpose: Genetic studies have identified thousands of individual disease-associated non-coding alleles, but identification of the causal alleles and their functions remain critical bottlenecks. Even though…
Abstract Number: 1424 • ACR Convergence 2024
Associations of Human Leukocyte Antigens (HLA) Class II with Interstitial Lung Disease (ILD) in Patients with Systemic Autoimmune Rheumatic Diseases (SARDs). A Prospective Study in Sequential Patients with SARD-ILD
Panagiotis Panagopoulos¹, Loukas chatzis², Vasiliki Kitsiou³, Katerina Tarassi³, Eirini Chatzinikita⁴, Katerina Malagari⁵, Theodoros Vassilakopoulos⁴, Alexandra Tsirogianni³, Andreas Goules⁶ and Athanasios Tzioufas⁷, ¹Department of Pathophysiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, ²Pathophysiology Department, Athens School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, Cholargos Athens, Greece, ³Immunology and Histocompatibility Department, Evangelismos General Hospital, Athens, Greece, ⁴Department of Physiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, ⁵2nd Department of Radiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, ⁶GENERAL HOSPITAL LAIKO ATHENS, Athens, Greece, ⁷LAIKO HOSPITAL, Athens, Greece
Background/Purpose: Genetic studies in various systemic autoimmune rheumatic diseases (SARDs) support that human leukocyte antigen (HLA) class II alleles are associated with specific autoimmune disorders…
Abstract Number: 2202 • ACR Convergence 2024
Evolving Phenotypic and Genotypic Spectrum of Human ISG15 and USP18 Deficiencies
Alhanouf Alsaleem¹, Wafaa Abdulghaffar², Lujain Akbar³, Meshal Alhassan⁴, Fatimah Alkhars⁵ and Sulaiman Al-Mayouf⁶, ¹KFSH&RC, Riyadh, Saudi Arabia, ²KFSHRC, RIYADH, RIYADH, ³RIYADH, RIYADH, Saudi Arabia, ⁴Imam Abdulrahman Bin Faisal University, DAMMAM, ⁵Maternity and children hospital, ALHASSA, ⁶KFSHRRC, Riyadh, Saudi Arabia
Background/Purpose: Loss of negative regulator in ISG15 and USP18 results in recently described immunodysregulatory disorders with diversity of clinical characteristics related to enhanced IFN-a/b immunity.…
Abstract Number: 0907 • ACR Convergence 2024
Association of Rare and Common Genetic Variants in MOCOS with Inadequate Response to Allopurinol
Niamh Fanning¹, Murray Cadzow², Ruth Topless³, Chris Frampton⁴, Nicola Dalbeth⁵, Tony Merriman⁶ and Lisa Stamp⁴, ¹University of Otago, Christchurch, New Zealand, ²University of Otago, Dunedin 9054, New Zealand, ³University of Otago, Dunedin, New Zealand, ⁴University of Otago, Christchurch, Christchurch, New Zealand, ⁵University of Auckland, Auckland, New Zealand, ⁶University of Alabama at Birmingham, Homewood, AL
Background/Purpose: The minor allele of the common rs2231142 (Q141K) ABCG2 variant predicts inadequate response to allopurinol urate lowering therapy (ULT). We hypothesize that additional variants in genes…
Abstract Number: 1761 • ACR Convergence 2024
Juvenile Idiopathic Arthritis Genetic Risk Haplotypes: Relevance to Children of African Ancestry
Sabrina George¹, Hannah C Ainsworth², Kaiyu Jiang³, Gilad Barshad⁴, Adam He⁴, Edward Rice⁴, Carl D Langerfeld², Charles G Danko⁴ and James N Jarvis³, ¹University at Buffalo Jacobs School of Medicine, Buffalo, NY, ²Wake Forest University, Winston-Salem, NC, ³University of Washington School of Medicine, Seattle, WA, ⁴Cornell University Baker School of Veterinary Medicine, Ithaca, NY
Background/Purpose: - Numerous juvenile idiopathic arthritis (JIA) risk loci have been identified, overwhelmingly from cohorts of children of European ancestry (EA). The extent to which…
Abstract Number: 2282 • ACR Convergence 2024
Defining a Personalized Treatment Approach to Rheumatoid Arthritis: Using Genetic Markers of TNFi Response
M. Elaine Husni, Judy Zhang, Jean Lin, Yuxuan Jin and Unnikrishnan Chandrasekharan, Cleveland Clinic, Cleveland, OH
Background/Purpose: The development of a personalized medicine approach to identify responders and non-responders to tumor necrosis factor alpha (TNFα) inhibiting agents for rheumatoid arthritis (RA)…
Abstract Number: 0908 • ACR Convergence 2024
Clinical Characteristics of Patients with High SLE-specific and High Multitrait Polygenic Risk – an Investigation of SLE Risk Loci
Nina Oparina¹, Sarah Reid², Ahmed Sayadi³, Maija-Leena Eloranta⁴, Martina Frodlund⁵, Karoline Lerang⁶, Andreas Jönsen⁷, Solbritt Rantapaa-Dahlqvist⁸, Anders Bengtsson⁷, Anna Rudin⁹, Øyvind Molberg¹⁰, Christopher Sjowall¹¹, Lars Rönnblom⁴ and Dag Leonard⁴, ¹UU, Uppsala, Sweden, ²Uppsala University, Medical Sciences, Uppsala, Sweden, ³Uppsala, Uppsala, Sweden, ⁴Uppsala University, Uppsala, Sweden, ⁵Department of Biomedical and Clinical Sciences, Division of Inflammation and Infection/Rheumatology, Linköping University, Linköping, Sweden, ⁶Oslo University, Oslo, Norway, ⁷Lund University, Lund, Sweden, ⁸Umeå University, Umeå, Sweden, ⁹Institute of Medicine, University of Gothenburg, Gothenburg, Sweden, ¹⁰Department of Rheumatology, Oslo University Hospital, Rikshospitalet, Oslo, Norway, ¹¹Linköping University, Linköping, Sweden
Background/Purpose: Heritability of SLE is high and more than 200 genetically associated SLE risk loci were identified. Part of them are specific and associate with…
Abstract Number: 1766 • ACR Convergence 2024
STAT2-Associated Type I Interferonopathy: A Masquerade of Infectious Susceptibility
Conor Gruber¹, Angelica Lee², Sofija Buta², Marta Martin Fernandez², Veronique Houdouin³, Jean-Laurent Casanova⁴, Alice Hadchouel⁵, Jacinta Bustamante⁵ and Dusan Bogunovic², ¹Mount Sinai Hospital, New York, NY, ²Columbia University, New York, NY, ³Robert Debré Hospital, Paris, France, ⁴Rockefeller University, New York, NY, ⁵Hôpital Necker-Enfants Malades, Paris, France
Background/Purpose: Type I IFN (IFN-I) signaling is a potent inflammatory pathway fundamental to antiviral immunity. In humans, loss of IFN-I activity underlies severe viral disease,…
Abstract Number: 2373 • ACR Convergence 2024
The Construction and Validation of Sub-phenotype-specific Genetic Risk Scores in Systemic Lupus Erythematosus: A Novel Approach Using Large-scale Biobank Data
Sarah Reid¹, Johanna Sandling², Pascal Pucholt³, Ahmed Sayadi⁴, Martina Frodlund⁵, Karoline Lerang⁶, Andreas Jönsen⁷, Christopher Sjowall⁸, Iva Gunnarsson⁹, Ann-Christine Syvänen², Anders Bengtsson⁷, Øyvind Molberg¹⁰, Elisabet Svenungsson¹¹, Anna Rudin¹², Solbritt Rantapaa-Dahlqvist¹³, Lars Rönnblom² and Dag Leonard², ¹Uppsala University, Medical Sciences, Uppsala, Sweden, ²Uppsala University, Uppsala, Sweden, ³Rheumatology and Science for Life Laboratory, Department of Medical Sciences, Uppsala university, Uppsala, Sweden, ⁴Uppsala, Uppsala, Sweden, ⁵Department of Biomedical and Clinical Sciences, Division of Inflammation and Infection/Rheumatology, Linköping University, Linköping, Sweden, ⁶Oslo University Hospital, Oslo, Norway, ⁷Lund University, Lund, Sweden, ⁸Linköping University, Linköping, Sweden, ⁹Karolinska Institute, Stockholm, Sweden, ¹⁰Oslo University Hospital, Department of Rheumatology, Oslo, Nepal, ¹¹Karolinska Institutet, Stockholm, Sweden, ¹²Institute of Medicine, University of Gothenburg, Gothenburg, Sweden, ¹³Umeå University, Umeå, Sweden
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease with a heterogeneous clinical picture. This study aimed to link genetic SLE predisposition with relevant clinical…
Abstract Number: 0055 • ACR Convergence 2024
Activating STAT3 Mutations in CD8+ T Cells Correlate to Serological Positivity in Rheumatoid Arthritis
Katharine moosic¹, Thomas Olson², Mark Freijat³, samara khalique⁴, Cait Hamele¹, Bryna Shemo¹, Jesse Boodoo⁵, William Baker⁶, Gitanjali Khurana⁷, Matthew Schmachtenberg⁸, Tristin Duffy⁸, Aakrosh Ratan¹, Erika Darrah⁹, Felipe Andrade¹⁰, Marieke Jones⁸, Kristine Olson², David Feith¹, Thomas Loughran¹ and Donald Kimpel¹, ¹University of Virginia, Charlottesville, VA, ²Virginia Commonwealth University, Richmond, VA, ³Flow Rheumatology, Scottsdale, AZ, ⁴Carilion Clinic/ VirginiaTech, Salem, VA, ⁵Sarasota Arthritis Center, Sarasota, FL, ⁶Atrium Health, Charlotte, NC, ⁷University of Virginia, CROZET, VA, ⁸University of Virginia, Charlottesville, ⁹Johns Hopkins University, Baltimore, MD, ¹⁰The Johns Hopkins University School of Medicine, Timonium, MD
Background/Purpose: Large granular lymphocyte (LGL) leukemia is a rare hematologic malignancy characterized by clonal expansion of cytotoxic T-cells and frequent somatic activating STAT3 mutations. A…
Abstract Number: 0910 • ACR Convergence 2024
Reduced Adenosine-Mediated Regulatory Activity Exacerbated by an NT5E Loss of Function Mutation Is Linked to Tissue Inflammation and Hypertension in Systemic Lupus Erythematosus
Katherine Owen¹, Isaac Peabody², Mikhail Olferiev³, Tyson Dawson², Prathyusha Bachali⁴, Peter Kasson⁵, Amrie Grammer⁶, Mary Crow³ and Peter Lipsky², ¹RILITE, Charlottesville, VA, ²Ampel Biosolutions, Charlottesville, VA, ³Hospital for Special Surgery, New York, NY, ⁴AMPEL BioSolutions, Redmond, WA, ⁵University of Virginia, Charlottesville, VA, ⁶AMPEL LLC, Charlottesville, VA
Background/Purpose: Adenosine is a purine nucleoside generated by the enzymatic activity of CD73/NT5E, that functions as an endogenous regulator of the immune system critical for…
Abstract Number: 1773 • ACR Convergence 2024
Divergent Genetic Architecture in Boys and Girls with NEMO-deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) Implies Role for Wildtype Effector Cells
Adriana Almeida de Jesus¹, Kip Friend², Bin Lin³, Eric Karlins⁴, Colton McNinch⁴, Sara Alehashemi⁵, Keith Kauffman⁶, FARZANA BHUYAN³, Taylor Newbolt⁶, Andrea Bohrer⁷, Andre Rastegar³, Sophia Park³, Dana Kahle³, Jacob Mitchell³, Amanda Chen³, Sofia Torreggiani⁸, Kader Cetin Gedik⁹, Katsiaryna Uss², Amer Khojah¹⁰, Eveline Wu¹¹, Christiaan Scott¹², Timothy Ronan Leahy¹³, Emma MacDermott¹⁴, Orla Killeen¹⁵, Thaschawee Arkachaisri¹⁶, Brian Nolan¹⁷, Zoran Gucev¹⁸, Kathryn Cook¹⁹, Vafa Mammadova²⁰, Gulnara Nasrullayeva²⁰, Mariana Correia Marques²¹, Abigail Bosk²², Seza Ozen²³, Scott Canna²⁴, Maude Tusseau²⁵, Emilie Chopin²⁶, Guilaine Boursier²⁷, Veronique Hentgen²⁸, Ines Elhani²⁹, Mario Sestan³⁰, Marija Jelusic³¹, Danielle Fink³², Douglas Kuhns³², Clifton Dalgard³³, Alexandre Belot³⁴, Timothy Moran¹¹, Katherine Meyer-Barber⁷, Andrew Oler⁴, Daniel Barber⁶ and Raphaela Goldbach-Mansky³⁵, ¹NIAID, NIH, Silver Spring, MD, ²Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Bethesda, MD, ³TADS, NIAID, NIH, Bethesda, MD, ⁴BCBB, NIAID, NIH, Bethesda, MD, ⁵NIH/NIAID/TADS, Potomac, MD, ⁶T Lymphocyte Biology Section, LPD, NIAID, NIH, Bethesda, MD, ⁷Inflammation and Innate Immunity Unit, LCIM, NIAID, NIH, Bethesda, MD, ⁸University Of Maryland Baltimore, Baltimore, MD, ⁹Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Pittsburgh, PA, ¹⁰Umm Al-Qura University, Makkah, Saudi Arabia, ¹¹University of North Carolina School of Medicine, Chapel Hill, NC, ¹²University of Cape Town, Cape Town, South Africa, ¹³Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland, ¹⁴CHI Crumlin, Dublin, Dublin, Ireland, ¹⁵Children's Health Ireland, Dublin, Ireland, ¹⁶KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, ¹⁷Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, ¹⁸University Children's Hospital, Skopje, Macedonia, ¹⁹Akron Children's Hospital, Akron, OH, ²⁰Azerbaijan Medical University, Baku, Azerbaijan, ²¹National Institutes of Health, Bethesda, MD, ²²Children's National Hospital, Bethesda, DC, ²³Department of Pediatrics, Hacettepe University, Ankara, Turkey, ²⁴Children's Hospital of Philadelphia, Philadelphia, PA, ²⁵RAISE, Hospices Civils de Lyon, Lyon, France, ²⁶Hospices Civils de Lyon, Lyon, France, ²⁷University of Montpellier, Montpellier, ²⁸Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CEREMAIA, CHU de Montpellier, Univ Montpellier, Montpellier, France, Le Chesnay, France, ²⁹Department of Internal Medicine, Caen University Hospital, Caen, France, Caen, France, ³⁰University of Zagreb School of Medicine University Hospital Centre Zagreb, Zagreb, Croatia, ³¹University of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Zagreb, Croatia, ³²Collaborative Clinical Research Branch, NIAID, NIH, Bethesda, MD, Bethesda, MD, ³³The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, ³⁴Hospices Civils de Lyon, Collonges au mont d'or, France, ³⁵Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Potomac, MD
Background/Purpose: Splice-site variants in X-linked IKBKG cause NEMO-deleted exon5 autoinflammatory syndrome (NEMO-NDAS); a pseudogene (IKBKGP1) complicates genetic diagnosis. NEMO-NDAS is four times more common in…
Abstract Number: 2387 • ACR Convergence 2024
Biomarkers of Lupus Nephritis Are Less Predictive in APOL1 High Risk Genotype Lupus
Madeline Alizadeh¹, Vishnuprabu Pandian¹, Christele Felix², Andrra Nimoni², Jasmin Divers³, Timothy Niewold² and Ashira Blazer¹, ¹University of Maryland Baltimore, Baltimore, MD, ²Hospital for Special Surgery, New York, NY, ³NYU School of Medicine, New York, NY
Background/Purpose: Compared to Apolipoprotein L1 (APOL1) low risk genotype (LRG) patients, APOL1 (HRG) has been shown to increase the risk of chronic kidney disease in…
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…

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