A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

J Allergy Clin Immunol. 2016 Mar;137(3):955-7.e8. doi: 10.1016/j.jaci.2015.08.051. Epub 2015 Nov 10.
No abstract available

Publication types

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

MeSH terms

  • Calcium / metabolism*
  • Consanguinity
  • Family
  • Genes, Recessive
  • Genetic Association Studies
  • Homozygote*
  • Humans
  • Killer Cells, Natural / immunology*
  • Killer Cells, Natural / metabolism*
  • Membrane Proteins / genetics*
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Phenotype*
  • Stromal Interaction Molecule 1

Substances

  • Membrane Proteins
  • Neoplasm Proteins
  • STIM1 protein, human
  • Stromal Interaction Molecule 1
  • Calcium