T- and B-cell defects in a novel purine nucleoside phosphorylase mutation

J Allergy Clin Immunol. 2012 Aug;130(2):539-42. doi: 10.1016/j.jaci.2012.03.038. Epub 2012 May 10.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • B-Lymphocytes / metabolism*
  • B-Lymphocytes / pathology
  • Child
  • Codon, Nonsense*
  • Female
  • Humans
  • Purine-Nucleoside Phosphorylase / deficiency
  • Purine-Nucleoside Phosphorylase / genetics*
  • Severe Combined Immunodeficiency / enzymology
  • Severe Combined Immunodeficiency / genetics*
  • Siblings
  • T-Lymphocytes / metabolism
  • T-Lymphocytes / pathology

Substances

  • Codon, Nonsense
  • Purine-Nucleoside Phosphorylase