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

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

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference23 articles.

1. Primary immunodeficiencies;Notarangelo;J Allergy Clin Immunol,2010

2. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years;Kwan;J Allergy Clin Immunol,2013

3. Health Resources and Services Administration. Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Resolution from the 20th meeting, January 22, 2010; Washington, DC. Available at: http://www.hrsa.gov/heritabledisorderscommittee/.

4. Purine nucleoside phosphorylase deficiency;Markert;Immunodefic Rev,1991

5. Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency;Somech;Immunol Res,2013

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