Abstracts tagged "Immune Dysregulation"

Abstract Number: 2864 • 2013 ACR/ARHP Annual Meeting
Whole Exome Sequencing In Pediatric Patients With Early Onset Rare Immunodysregulatory Diseases That Present With Fever and Systemic Inflammation
Adriana Almeida de Jesus¹, Julie Niemela², Yin Liu³, Steven Boyden⁴, Ivona Aksentijevich⁵, Daniel L. Kastner⁶, Thomas A. Fleisher⁷, Raphaela Goldbach-Mansky³ and Zuoming Deng⁸, ¹Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ²Laboratory Medicine, NIH Clinical Center, Bethesda, MD, ³Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ⁴National Human Genome Research Institute, NIH, Bethesda, MD, ⁵Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁶Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ⁷Laboratory Medicine, Laboratory Medicine, NIH Clinical Center, Bethesda, MD, ⁸Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD
Background/Purpose: WES (Whole Exome Sequencing) has increasingly become the tool of choice in translational research, providing molecular diagnoses in Mendelian diseases and identifying important genes…
Abstract Number: 2195 • 2013 ACR/ARHP Annual Meeting
Expanding The Spectrum Of Recombination Activating Gene-1 Deficiency To Include Early Onset Autoimmunity
Lauren A. Henderson¹, Francesco Frugoni¹, Gregory Hopkins², Helen de Boer², Sung-Yun Pai^2,3, Yu Nee Lee¹, Jolan E. Walter⁴, Melissa M. Hazen¹ and Luigi D Notarangelo^5,6, ¹Division of Immunology, Boston Children's Hospital, Boston, MA, ²Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, ³Division of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, ⁴Division of Allergy/Immunology, Massachusetts General Hospital for Children, Boston, MA, ⁵Division of Immunology and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, ⁶Harvard Stem Cell Institute, Boston, MA
Background/Purpose: We sought to identify the etiology of early onset autoimmunity and T cell lymphopenia in two siblings through genetic and functional studies. Newborn screening…
Abstract Number: 894 • 2013 ACR/ARHP Annual Meeting
Intermittent Fever, Immune Dysregulation, and Systemic Vasculopathy Due To Loss-Of-Function Mutations In Adenosine Deaminase2
Qing Zhou¹, Dan Yang², Andrey Zavialov³, Amanda Ombrello⁴, Hyesun Kuehn⁵, Jae Jin Chae⁶, Anton Zavialov³, David Chin⁷, Deborah Stone⁸, Camilo Toro⁹, Joshua Milner¹⁰, Chyi-chia Lee¹¹, Edward Cowen¹², Fabio Candotti¹³, Elaine Remmers⁷, Susan Moir¹⁴, Raman Sood¹⁵, Shawn Burgess¹⁶, Massimo Gadina¹⁷, Sergio Rosenzweig¹⁸, Michael Hershfield¹⁹, Daniel L. Kastner²⁰, Manfred Boehm² and Ivona Aksentijevich⁷, ¹Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ²Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, ³Turku Centre for Biotechnology, University of Turku, Turku, Finland, ⁴National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁵Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, ⁶Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁷Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁸National Human Genome Research Institute, Bethesda, MD, ⁹NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ¹⁰Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹¹National Cancer Institute, National Institutes of Health, Bethesda, MD, ¹²Dermatology Consultation Servce, National Cancer Institute, National Institutes of Health, Bethesda, MD, ¹³Disorder of Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ¹⁴Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹⁵Zebrafish Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ¹⁶Developmental Genomics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ¹⁷Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ¹⁸National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹⁹Department of Medicine, Duke University Medical Center, Durham, NC, ²⁰Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD
Background/Purpose: We observed a syndrome characterized by intermittent fevers and livedoreticularis, systemic inflammation, hepatosplenomegaly, cytopenias, vasculopathy, and early-onset lacunar strokes in five unrelated patients. We…

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM CT on October 25. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].