Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

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Bibtex

@article{8717cd058bc447629a5c4d5653d3ead2,
title = "Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.",
abstract = "Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect leading to the accumulation of inosine, 2'-deoxy-inosine (dIno), guanosine, and 2'-deoxy-guanosine (dGuo) in all cells, especially lymphocytes. Treatments are available and curative for PNP deficiency, but their efficacy depends on the early approach. PNP-combined immunodeficiency complies with the criteria for inclusion in a newborn screening program.",
author = "{la Marca}, Giancarlo and Clementina Canessa and Elisa Giocaliere and Francesca Romano and Sabrina Malvagia and Silvia Funghini and Maria Moriondo and Claudia Valleriani and Francesca Lippi and Daniela Ombrone and {Della Bona}, {Maria Luisa} and Carsten Speckmann and Stephan Borte and Nicholas Brodszki and Gennery, {Andrew R} and Katja Weinacht and Fatih Celmeli and Julia Pagel and {de Martino}, Maurizio and Renzo Guerrini and Helmut Wittkowski and Ines Santisteban and Pawan Bali and Aydan Ikinciogullari and Michael Hershfield and Notarangelo, {Luigi D} and Massimo Resti and Chiara Azzari",
year = "2014",
doi = "10.1016/j.jaci.2014.01.040",
language = "English",
volume = "134",
pages = "155",
journal = "Journal of Allergy and Clinical Immunology",
issn = "1097-6825",
publisher = "Elsevier",
number = "1",

}