Development of a routine newborn screening protocol for severe combined immunodeficiency

Background Severe combined immunodeficiency (SCID) is characterized by the absence of functional T cells and B cells. Without early diagnosis and treatment, infants with SCID die from severe infections within the first year of life. Objective To determined the feasibility of detecting SCID in newbor...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2009-09, Vol.124 (3), p.522-527
Hauptverfasser:	Baker, Mei W., MD, Grossman, William J., MD, PhD, Laessig, Ronald H., PhD, Hoffman, Gary L., BS, Brokopp, Charles D., DrPH, Kurtycz, Daniel F., MD, Cogley, Michael F., BS, Litsheim, Thomas J., BS, Katcher, Murray L., MD, PhD, Routes, John M., MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Actins - analysis Actins - immunology Allergy and Immunology Biological and medical sciences Deoxyribonucleic acid DNA DNA - blood DNA - genetics Dried blood spots Fundamental and applied biological sciences. Psychology Fundamental immunology Gene amplification Health care hematopoietic stem cell transplantation Humans Immunopathology Infant, Newborn Infections Lymphocytes Medical sciences Mortality Neonatal Screening - methods Newborn babies newborn screening Polymerase Chain Reaction - methods Preventive medicine Public health real-time quantitative PCR Receptors, Antigen, T-Cell - genetics Receptors, Antigen, T-Cell - immunology Reproducibility of Results Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis severe combined immunodeficiency Severe Combined Immunodeficiency - diagnosis Severe Combined Immunodeficiency - immunology T cell receptors T-cell receptor excision circles
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