Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency
Authors:
- Giancarlo la MarcaGMGiancarlo la Marca
- Clementina CanessaCCClementina Canessa
- Elisa GiocaliereEGElisa Giocaliere
- Francesca RomanoFRFrancesca Romano
- Marzia DuseMDMarzia Duse
- Sabrina MalvagiaSMSabrina Malvagia
- Francesca LippiFLFrancesca Lippi
- Silvia FunghiniSFSilvia Funghini
- Leila BianchiLBLeila Bianchi
- Maria Luisa Della BonaMBMaria Luisa Della Bona
- Claudia VallerianiCVClaudia Valleriani
- Daniela OmbroneDODaniela Ombrone
- 1 June 2013
- journal article
- case report
- Published by Elsevier in Journal of Allergy and Clinical Immunology
- Vol. 131 (6) , 1604-1610
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circlesJournal of Allergy and Clinical Immunology, 2012
- Clinical and immunological manifestations of patients with atypical severe combined immunodeficiencyClinical Immunology, 2011
- Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: A reliable and inexpensive method using tandem mass spectrometryJournal of Allergy and Clinical Immunology, 2011
- Guidelines for implementation of population‐based newborn screening for severe combined immunodeficiencyJournal of Inherited Metabolic Disease, 2010
- Primary immunodeficienciesJournal of Allergy and Clinical Immunology, 2010
- New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapyCurrent Opinion in Allergy and Clinical Immunology, 2009
- How I treat ADA deficiencyBlood, 2009
- Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant AllelesThe American Journal of Human Genetics, 1998
- Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.Journal of Clinical Investigation, 1990
- Erythrocyte Adenosine Deaminase Deficiency without ImmunodeficiencyJournal of Clinical Investigation, 1979