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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 and Ombrone, Daniela, et al. (2014) In Journal of Allergy and Clinical Immunology 134(1). p.155-155
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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publication status
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Journal of Allergy and Clinical Immunology
volume
134
issue
1
pages
155 - 155
publisher
Elsevier
external identifiers
  • pmid:24767876
  • wos:000338930300020
  • scopus:84903705060
ISSN
1097-6825
DOI
10.1016/j.jaci.2014.01.040
language
English
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yes
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8717cd05-8bc4-4762-9a5c-4d5653d3ead2 (old id 4429426)
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http://www.ncbi.nlm.nih.gov/pubmed/24767876?dopt=Abstract
date added to LUP
2014-05-02 23:30:24
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2017-09-24 03:23:10
@article{8717cd05-8bc4-4762-9a5c-4d5653d3ead2,
  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 Canessa, Clementina and Giocaliere, Elisa and Romano, Francesca and Malvagia, Sabrina and Funghini, Silvia and Moriondo, Maria and Valleriani, Claudia and Lippi, Francesca and Ombrone, Daniela and Della Bona, Maria Luisa and Speckmann, Carsten and Borte, Stephan and Brodszki, Nicholas and Gennery, Andrew R and Weinacht, Katja and Celmeli, Fatih and Pagel, Julia and de Martino, Maurizio and Guerrini, Renzo and Wittkowski, Helmut and Santisteban, Ines and Bali, Pawan and Ikinciogullari, Aydan and Hershfield, Michael and Notarangelo, Luigi D and Resti, Massimo and Azzari, Chiara},
  issn         = {1097-6825},
  language     = {eng},
  number       = {1},
  pages        = {155--155},
  publisher    = {Elsevier},
  series       = {Journal of Allergy and Clinical Immunology},
  title        = {Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.},
  url          = {http://dx.doi.org/10.1016/j.jaci.2014.01.040},
  volume       = {134},
  year         = {2014},
}