Abstracts tagged "neutrophils and osteoclastogenesis"

Abstract Number: 2773 • 2017 ACR/ARHP Annual Meeting
Severe Juvenile Arthritis Associated with a De Novo Gain-of-Function Germline Mutation in MYD88
Keith A. Sikora¹, Joshua R. Bennett², Laurens Vyncke³, Zuoming Deng⁴, Wanxia Li Tsai², Ewald Pauwels⁵, Gerlinde Layh-Schmitt², April D. Brundidge², Fatemeh Navid², Kristien Zaal⁶, Eric Hanson², Massimo G. Gadina⁷, Louis M. Staudt⁸, Thomas A. Griffin⁹, Jan Tavernier³, Frank Peelman³ and Robert Colbert², ¹Pediatric Translational Research Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ³Department of Biochemistry, Ghent University, Ghent, Belgium, ⁴Biodata Mining & Discovery, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁵Center for Molecular Modeling, Ghent University, Ghent, Belgium, ⁶Light Imaging Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁷Translational Immunology, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁸National Cancer Institute, National Institutes of Health, Bethesda, MD, ⁹Levine Children’s Hospital at Carolinas Medical Center, Charlotte, NC
Background/Purpose: Using whole exome sequencing, we discovered a de novo heterozygous germline mutation in MYD88 (myeloid differentiation primary response 88) (c.666T>G, p.S222R) in a child…

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