Article
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.
The Journal of allergy and clinical immunology - 1 Jul 2014
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
Abstract excerpt
BACKGROUND: 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....
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