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1.	la Marca, Giancarlo, et al. (author) Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. 2014 In: Journal of Allergy and Clinical Immunology. - : Elsevier BV. - 1097-6825 .- 0091-6749. ; 134:1, s. 155-155 Journal article (peer-reviewed)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.

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Author/Editor: Notarangelo, Luigi D (1); Borte, Stephan (1); Wittkowski, Helmut (1); Brodszki, Nicholas (1); Guerrini, Renzo (1); Gennery, Andrew R (1); show more...; la Marca, Giancarlo (1); Canessa, Clementina (1); Giocaliere, Elisa (1); Romano, Francesca (1); Malvagia, Sabrina (1); Funghini, Silvia (1); Moriondo, Maria (1); Valleriani, Claudia (1); Lippi, Francesca (1); Ombrone, Daniela (1); Della Bona, Maria Lu ... (1); Speckmann, Carsten (1); Weinacht, Katja (1); Celmeli, Fatih (1); Pagel, Julia (1); de Martino, Maurizio (1); Santisteban, Ines (1); Bali, Pawan (1); Ikinciogullari, Ayda ... (1); Hershfield, Michael (1); Resti, Massimo (1); Azzari, Chiara (1); show less...

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