Abstracts tagged "Immune Dysregulation"

Abstract Number: 018 • 2020 Pediatric Rheumatology Symposium
Functional Characterization of PLCG2 Mutations Found in Subjects with Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) Reveals Both Hypermorphic and Hypomorphic Mutants
Kathleen Baysac¹, Charles Fisher ¹, Hiroto Nakano ¹, Guangping Sun ², Joshua Milner ³ and Michael Ombrello ¹, ¹NIAMS, NIH, Bethesda, ²NIAID, NIH, Bethesda, ³
Background/Purpose: PLCG2-associated antibody deficiency and immune dysregulation (PLAID) and autoinflammatory PLAID (APLAID) are autosomal dominant diseases caused by mutations of PLCG2. APLAID is clinically characterized…
Abstract Number: 1971 • 2018 ACR/ARHP Annual Meeting
PLCG2 Variants Influence CVID Susceptibility: Expanding the Spectrum of PLCG2-Associated Immune Dysregulation
Ann Marie Szymanski¹, Kathleen Baysac¹, Hannah Marcy¹, Elizabeth Baskin¹, Joshua Milner² and Michael Ombrello¹, ¹Translational Genetics and Genomics Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ²Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD
Background/Purpose: Immune dysregulation refers to alterations in immune signaling leading to development of autoimmunity, infection and atopic disease. Common variable immunodeficiency (CVID), a prototypic disorder…
Abstract Number: 176 • 2017 ACR/ARHP Annual Meeting
SEC16A and Antigen Presentation Abnormalities in the Pathogenesis of Axial Spondyloarthritis
Fanxing Zeng¹, Vidya Ranganathan², Proton Rahman³, Darren O’Rielly⁴ and Nigil Haroon⁵, ¹University Health Network, Toronto, ON, Canada, ²University of Toronto, Toronto, ON, Canada, ³Rheumatology, St Claires Mercy Hospital, St Johns, NF, Canada, ⁴Memorial University, St John's, NF, Canada, ⁵Rheumatology, Toronto Western Hospital, University of Toronto, Spondylitis Clinic, Toronto, ON, Canada
Background/Purpose: Axial Spondyloarthritis (AxSpA) is a chronic inflammatory rheumatic disease of axial skeleton. Our group recently identified a novel rare mutation of the SEC16A gene…
Abstract Number: 1147 • 2017 ACR/ARHP Annual Meeting
Macrophage Activation Syndrome or Acquired Hemophagocytic Lymphohistiocytosis in Adults: Demographics, Clinical Characteristics, and Survivorship in an American Academic Medical Center
Seema Malkana¹ and Irene Tan², ¹Internal Medicine, Temple University Hospital, Philadelphia, PA, ²Section of Rheumatology, Temple University Lewis Katz School of Medicine, Philadelphia, PA
Background/Purpose: Macrophage Activation Syndrome, also known as acquired Hemophagocytic Lymphohistiocytosis in adults, is an immune-mediated systemic inflammatory state. It is associated with multisystem organ failure…
Abstract Number: 1167 • 2017 ACR/ARHP Annual Meeting
Phenotypical Features of Patients with Rheumatologic Manifestations of Common Variable Immunodeficiency
MARIA GUTIERREZ¹, Kathleen E. Sullivan², Ramsay Fuleihan³ and Clifton O. Bingham III⁴, ¹Pediatrics, Johns Hopkins University, BALTIMORE, MD, ²Pediatrics, University of Pennsylvania, Philadelphia, PA, ³Pediatrics, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, ⁴Rheumatology, Johns Hopkins University, Baltimore, MD
Background/Purpose: Patients with common variable immunodeficiency (CVID) have a higher incidence of rheumatologic disorders. To delineate this clinical association, we investigated the phenotypical features of…
Abstract Number: 2560 • 2017 ACR/ARHP Annual Meeting
Spleen Tyrosine Kinase Inhibition Reveals Immune Cell Subsets of Diseased NZB/W F1 Mice That Are Reflected in Systemic Lupus Erythematosus Patient Peripheral Blood Mononuclear Cells
Christopher Pohlmeyer¹, Zhi-Hua Cui², Christian Franci¹, Gundula Min-Oo¹, JiYun Kim³ and Julie Di Paolo¹, ¹Immunology and Inflammation Biology, Gilead Sciences, Foster City, CA, ²Fibrosis Biology, Gilead Sciences, Foster City, CA, ³Biomarkers, Gilead Sciences, Foster City, CA
Background/Purpose: Spleen tyrosine kinase (SYK) is a driver of B cell receptor and Fc receptor signaling pathways, which have central roles in initiating and driving…
Abstract Number: 2256 • 2016 ACR/ARHP Annual Meeting
Histopathologic Features and Tissue Interferon-Response Gene Scoring of Lesional Skin Samples for Diagnosis in Autoinflammatory Disorders
Kyawt W. Shwin^1,2, Chyi-Chia Richard Lee³, Adriana Almeida de Jesus⁴, Carmelo Carmona-Rivera⁵, Louise Malle⁴, Yanfeng Hou⁶, Gina A. Montealegre Sanchez⁴, Edward Cowen⁷ and Raphaela Goldbach-Mansky⁸, ¹Translational Autoinflammatory Diseases Studies, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, ²National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³Dermatopathology Section, Laboratory of Pathology, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD, ⁴National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ⁵Systemic Autoimmunity Branch/ NIAMS, National Institutes of Health, Bethesda, MD, ⁶Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, ⁷Dermatology Branch, National Cancer Institute (NCI), National Institutes of Health, Bethesda, MD, ⁸Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD
Background/Purpose: Many genetically defined autoinflammatory diseases (AID) are caused by innate immune dysregulation and present with “neutrophilic dermatoses”. This study systematically assesses immune-cell infiltrates, and…
Abstract Number: 2432 • 2016 ACR/ARHP Annual Meeting
Immune Abnormalities Leading to Exaggerated Production of IFN-Gamma (IFNγ) and the Therapeutic Response to an Anti-IFNγ Antibody in a Patient with NRLC4 Mediated Disease
Claudia Bracaglia¹, Giusi Prencipe², Manuela Pardeo¹, Geneviève Lapeyre³, Emiliano Marasco², Antonella Insalaco¹, Walter Ferlin³, Robert Nelson³, Cristina de Min³ and Fabrizio De Benedetti¹, ¹Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy, Rome, Italy, ²Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy, ³NovImmune S.A., Geneva, Switzerland
Background/Purpose: Animal and human data suggest that IFNγ plays a pathogenic role in HLH. A phase 2 trial with the anti-IFNγ monoclonal antibody NI-0501 in…
Abstract Number: 2695 • 2016 ACR/ARHP Annual Meeting
Genetic Association of Ankylosing Spondylitis with TBX21 Influences T-Bet and Pro-Inflammatory Cytokine Expression in Humans and SKG Mice As a Model of Spondyloarthritis and Alters Host Microbiome and Response to Microbial Stimuli
Max Lau¹, Patricia Keith¹, Madeline McCready¹, Mary-Ellen Costello¹, Linda Bradbury¹, Kelly Holiis¹, Ranjeny Thomas², Gethin P. Thomas³, Matthew A. Brown¹ and Tony J. Kenna¹, ¹Translational Research Institute, Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Australia, ²Translational Research Institute, The University of Queensland Diamantina Institute, Brisbane, Australia, ³Translational Reserch Institute, The University of Queensland Diamantina Institute, Brisbane, Australia
Background/Purpose: TBX21 encodes the transcription factor T-bet and is genome-wide significant associated with ankylosing spondylitis (AS). T-bet is implicated in innate and adaptive immunity. However,…
Abstract Number: 2938 • 2016 ACR/ARHP Annual Meeting
U4ATAC Mutation Is Associated with an Immune Dysregulation Syndrome Characterized By Primary Immunodeficiency, Short Stature and Polyglandular Endocrinopathy
Maria Gutierrez¹, Zuoming Deng², Joshua McElwee³, Richard M. Siegel⁴ and Eric Hanson⁵, ¹NIAMS, NIH, Bethesda, MD, ²NIAMS/NIH, Bethesda, MD, ³Immunogenetics Genetics and Pharmacogenomics, Merck Research Laboratories, Boston, MA, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
Background/Purpose: A host of primary immunodeficiencies, such as autoimmune polyendocrinopathy, candidiasis, ectodermal dysplasia (APECED), immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), and STAT5b insufficiency can…
Abstract Number: 1560 • 2016 ACR/ARHP Annual Meeting
A Unique Immune Signature in Patients with Active Rheumatoid Arthritis but Normal C-Reactive Protein Levels: Potential for New Therapeutic Targets?
Claire Bradford¹, Rosa González-Serrano¹, Andrew Cole¹, Shashank Ramakrishnan¹, Giampiero Marra¹, Coziana Ciurtin², Elizabeth Jury¹ and Jessica Manson³, ¹Division of Medicine, Centre for Rheumatology Research, University College London, London, United Kingdom, ²Rheumatology Department, University College London, London, United Kingdom, ³Rheumatology Department, University College London Hospital, London, United Kingdom
Background/Purpose: Using musculoskeletal ultrasound (US) to assess joint erosions and disease activity in patients with seropositive rheumatoid arthritis (RA) an atypical subgroup was identified with…
Abstract Number: 2829 • 2015 ACR/ARHP Annual Meeting
Enhanced Expression of the Transcription Factor T-Bet Alters Pro-Inflammatory Cytokine Profile in Ankylosing Spondylitis
Max C. Lau¹, Patricia Keith¹, Mary-Ellen Costello¹, Linda A. Bradbury¹, Kelly A. Hollis¹, Gethin P. Thomas², Matthew A. Brown^1,3 and Tony J. Kenna¹, ¹The University of Queensland Diamantina Institute, Brisbane, Australia, ²Translational Reserch Institute, The University of Queensland Diamantina Institute, Brisbane, Australia, ³Translational Research Institute, Brisbane, Australia
Background/Purpose: TBX21 encodes T-bet, a T-box transcription factor, and lies within a locus with genome-wide significant association with AS (rs11657479, odds ratio=1.13, P=6.16x10-10). T-bet is…
Abstract Number: 3025 • 2015 ACR/ARHP Annual Meeting
FcγRIIIa-Psyk Signaling up-Regulates TLR3 and TLR5 in Human Naïve CD4+ T-Cells
Chen Chen¹, Ye Bi², Terry Moore³ and Anil K. Chauhan⁴, ¹Rheumatology/Internal Medicine, Saint Louis University, St. Louis, MO, ²Internal Medicine, Saint Louis University, St. Louis, MO, ³Division of Rheumatology and Pediatric Rheumatology, Saint Louis University School of Medicine, St Louis, MO, ⁴Internal Medicine-Rheumatology, Saint Louis University, St Louis, MO
Background/Purpose: To delineate mechanism of FcγRIIIa-pSyk signal in TH17 and IFN-γhigh subset development. To examine whether Toll-like receptor signaling play a role in CD4+ T-cell…
Abstract Number: 2061 • 2014 ACR/ARHP Annual Meeting
Unexpectedly High Prevalence of Immunoglobulin Deficiency in Fibromyalgia
Xavier Caro and Earl Winter, Fibromyalgia Research and Treatment Center, Northridge, CA
Background/Purpose: It has recently been shown that Fibromyalgia (FM) is commonly associated with clinical evidence of neuropathic pain language, laboratory evidence of small fiber…
Abstract Number: 1899 • 2014 ACR/ARHP Annual Meeting
Blockade of Interleukin-33 Signaling Prevents Death in a Mouse Model of Familial Hemophagocytic Lymphohistiocytosis
Julia Rood¹, Portia Kreiger², Erietta Stelekati¹, E. John Wherry¹ and Edward M. Behrens³, ¹Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, ²Pathology, Alfred I. duPont Hospital for Children, Wilmington, DE, ³Rheumatology, The Children's Hospital of Philadelphia, Philadelphia, PA
Background/Purpose Cytokine storm syndromes, such as macrophage activation syndrome and familial hemophagocytic lymphohistiocytosis (FHL), represent important causes of mortality in pediatric rheumatology. Studies of a…

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