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…

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