Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings

J Allergy Clin Immunol. 2016 Dec;138(6):1722-1725.e6. doi: 10.1016/j.jaci.2016.04.059. Epub 2016 Jul 14.
No abstract available

Publication types

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

MeSH terms

  • Carbon-Nitrogen Ligases / deficiency*
  • Carbon-Nitrogen Ligases / genetics*
  • Child
  • Child, Preschool
  • Exome Sequencing / methods
  • Female
  • Humans
  • Male
  • Mutation / genetics
  • Phenotype
  • Siblings

Substances

  • Carbon-Nitrogen Ligases
  • CTP synthetase