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

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Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. / la Marca, Giancarlo; Canessa, Clementina; Giocaliere, Elisa; Romano, Francesca; Malvagia, Sabrina; Funghini, Silvia; Moriondo, Maria; Valleriani, Claudia; Lippi, Francesca; Ombrone, Daniela; Della Bona, Maria Luisa; Speckmann, Carsten; Borte, Stephan; Brodszki, Nicholas; Gennery, Andrew R; Weinacht, Katja; Celmeli, Fatih; Pagel, Julia; de Martino, Maurizio; Guerrini, Renzo; Wittkowski, Helmut; Santisteban, Ines; Bali, Pawan; Ikinciogullari, Aydan; Hershfield, Michael; Notarangelo, Luigi D; Resti, Massimo; Azzari, Chiara.

In: Journal of Allergy and Clinical Immunology, Vol. 134, No. 1, 2014, p. 155.

Research output: Contribution to journalArticle

Harvard

la Marca, G, Canessa, C, Giocaliere, E, Romano, F, Malvagia, S, Funghini, S, Moriondo, M, Valleriani, C, Lippi, F, Ombrone, D, Della Bona, ML, Speckmann, C, Borte, S, Brodszki, N, Gennery, AR, Weinacht, K, Celmeli, F, Pagel, J, de Martino, M, Guerrini, R, Wittkowski, H, Santisteban, I, Bali, P, Ikinciogullari, A, Hershfield, M, Notarangelo, LD, Resti, M & Azzari, C 2014, 'Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.', Journal of Allergy and Clinical Immunology, vol. 134, no. 1, pp. 155. https://doi.org/10.1016/j.jaci.2014.01.040

APA

CBE

la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, Moriondo M, Valleriani C, Lippi F, Ombrone D, Della Bona ML, Speckmann C, Borte S, Brodszki N, Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Wittkowski H, Santisteban I, Bali P, Ikinciogullari A, Hershfield M, Notarangelo LD, Resti M, Azzari C. 2014. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. Journal of Allergy and Clinical Immunology. 134(1):155. https://doi.org/10.1016/j.jaci.2014.01.040

MLA

Vancouver

Author

la Marca, Giancarlo ; Canessa, Clementina ; Giocaliere, Elisa ; Romano, Francesca ; Malvagia, Sabrina ; Funghini, Silvia ; Moriondo, Maria ; Valleriani, Claudia ; Lippi, Francesca ; Ombrone, Daniela ; Della Bona, Maria Luisa ; Speckmann, Carsten ; Borte, Stephan ; Brodszki, Nicholas ; Gennery, Andrew R ; Weinacht, Katja ; Celmeli, Fatih ; Pagel, Julia ; de Martino, Maurizio ; Guerrini, Renzo ; Wittkowski, Helmut ; Santisteban, Ines ; Bali, Pawan ; Ikinciogullari, Aydan ; Hershfield, Michael ; Notarangelo, Luigi D ; Resti, Massimo ; Azzari, Chiara. / Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. In: Journal of Allergy and Clinical Immunology. 2014 ; Vol. 134, No. 1. pp. 155.

RIS

TY - JOUR

T1 - Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

AU - la Marca, Giancarlo

AU - Canessa, Clementina

AU - Giocaliere, Elisa

AU - Romano, Francesca

AU - Malvagia, Sabrina

AU - Funghini, Silvia

AU - Moriondo, Maria

AU - Valleriani, Claudia

AU - Lippi, Francesca

AU - Ombrone, Daniela

AU - Della Bona, Maria Luisa

AU - Speckmann, Carsten

AU - Borte, Stephan

AU - Brodszki, Nicholas

AU - Gennery, Andrew R

AU - Weinacht, Katja

AU - Celmeli, Fatih

AU - Pagel, Julia

AU - de Martino, Maurizio

AU - Guerrini, Renzo

AU - Wittkowski, Helmut

AU - Santisteban, Ines

AU - Bali, Pawan

AU - Ikinciogullari, Aydan

AU - Hershfield, Michael

AU - Notarangelo, Luigi D

AU - Resti, Massimo

AU - Azzari, Chiara

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

U2 - 10.1016/j.jaci.2014.01.040

DO - 10.1016/j.jaci.2014.01.040

M3 - Article

VL - 134

SP - 155

JO - Journal of Allergy and Clinical Immunology

T2 - Journal of Allergy and Clinical Immunology

JF - Journal of Allergy and Clinical Immunology

SN - 1097-6825

IS - 1

ER -