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  • la Marca, Giancarlo (author)

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

  • Article/chapterEnglish2014

Publisher, publication year, extent ...

  • Elsevier BV,2014

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:8717cd05-8bc4-4762-9a5c-4d5653d3ead2
  • https://lup.lub.lu.se/record/4429426URI
  • https://doi.org/10.1016/j.jaci.2014.01.040DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:129426205URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Canessa, Clementina (author)
  • Giocaliere, Elisa (author)
  • Romano, Francesca (author)
  • Malvagia, Sabrina (author)
  • Funghini, Silvia (author)
  • Moriondo, Maria (author)
  • Valleriani, Claudia (author)
  • Lippi, Francesca (author)
  • Ombrone, Daniela (author)
  • Della Bona, Maria Luisa (author)
  • Speckmann, Carsten (author)
  • Borte, StephanKarolinska Institutet (author)
  • Brodszki, NicholasLund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-nbs (author)
  • Gennery, Andrew R (author)
  • Weinacht, Katja (author)
  • Celmeli, Fatih (author)
  • Pagel, Julia (author)
  • de Martino, Maurizio (author)
  • Guerrini, Renzo (author)
  • Wittkowski, Helmut (author)
  • Santisteban, Ines (author)
  • Bali, Pawan (author)
  • Ikinciogullari, Aydan (author)
  • Hershfield, Michael (author)
  • Notarangelo, Luigi D (author)
  • Resti, Massimo (author)
  • Azzari, Chiara (author)
  • Karolinska InstitutetPediatrik, Lund (creator_code:org_t)

Related titles

  • In:Journal of Allergy and Clinical Immunology: Elsevier BV134:1, s. 155-1551097-68250091-6749

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