A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency

J Allergy Clin Immunol. 2015 Oct;136(4):1113-4. doi: 10.1016/j.jaci.2015.04.021. Epub 2015 May 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • DNA Helicases / genetics*
  • Female
  • Genetic Diseases, Inborn / genetics*
  • Homozygote*
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Infant
  • Killer Cells, Natural*
  • Mutation*

Substances

  • RTEL1 protein, human
  • DNA Helicases