Abstracts tagged "T-Regulatory Cells and immune deficiency"

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…

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Abstracts tagged "T-Regulatory Cells and immune deficiency"

U4ATAC Mutation Is Associated with an Immune Dysregulation Syndrome Characterized By Primary Immunodeficiency, Short Stature and Polyglandular Endocrinopathy