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 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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4429426
- author
- organization
- publishing date
- 2014
- type
- Contribution to journal
- publication status
- published
- subject
- in
- 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
- LU publication?
- yes
- id
- 8717cd05-8bc4-4762-9a5c-4d5653d3ead2 (old id 4429426)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/24767876?dopt=Abstract
- date added to LUP
- 2016-04-01 11:02:01
- date last changed
- 2022-04-12 19:48:00
@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}}, doi = {{10.1016/j.jaci.2014.01.040}}, volume = {{134}}, year = {{2014}}, }