Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: A reliable and inexpensive method using tandem mass spectrometry - Azzari, Chiara; la Marca, Giancarlo; Resti, Massimo (Journal of allergy and clinical immunology, 2011)
Keywords: adenosine; Adenosine - blood; Adenosine deaminase; Adenosine Deaminase - blood; Adenosine Deaminase - deficiency; Agammaglobulinemia - blood; Agammaglobulinemia - diagnosis; Allergy and Immunology; Amino acids; Biological and medical sciences; blood; Blood Chemical Analysis - economics; Blood Chemical Analysis - methods; Blood Chemical Analysis - statistics & numerical data; bone marrow transplant; Case-Control Studies; Child; Child, Preschool; children; Costs and Cost Analysis; Defects; Deoxyadenosines - blood; Enzymes; Female; Fundamental and applied biological sciences. Psychology; Fundamental immunology; gene therapy; Humans; Immune system; Immunopathology; immunosuppression; infancy; Infant; Infant, Newborn; Infections; Italy; Laboratories; Male; Mass spectrometry; Medical sciences; Medical screening; Metabolism; Metabolites; Methods; Neonatal Screening - economics; Neonatal Screening - methods; neonates; Newborn babies; newborn screening; patients; Pilot Projects; Reproducibility of Results; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; screening; Sensitivity and Specificity; severe combined immunodeficiency; Severe Combined Immunodeficiency - blood; Severe Combined Immunodeficiency - diagnosis; tandem mass spectrometry; Tandem Mass Spectrometry - economics; Tandem Mass Spectrometry - methods; Tandem Mass Spectrometry - statistics & numerical data; Urine; Italy; tandem mass spectrometry; DBS; Adenosine deaminase; TREC; severe combined immunodeficiency; newborn screening; SCID; ADA; Dried blood spot; T-cell receptor gene excision circle; Human; Immunopathology; Neonatal; Severe combined immunodeficiency; Enzyme; Exploration; Method; Medical screening; Immunology; Newborn; Hydrolases; Combined immune deficiency; Mass spectrometry