A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8⁺ and natural killer cell cytotoxicity

J Allergy Clin Immunol. 2014 Jul;134(1):218-21. doi: 10.1016/j.jaci.2014.01.023. Epub 2014 Mar 14.
No abstract available

Publication types

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

MeSH terms

  • CD8-Positive T-Lymphocytes / immunology
  • CD8-Positive T-Lymphocytes / pathology*
  • Cytotoxicity, Immunologic
  • Gene Expression
  • Guanine Nucleotide Exchange Factors / deficiency
  • Guanine Nucleotide Exchange Factors / genetics
  • Guanine Nucleotide Exchange Factors / immunology*
  • Heterozygote
  • Humans
  • Immunoglobulin E / genetics
  • Immunoglobulin E / immunology
  • Job Syndrome / genetics
  • Job Syndrome / immunology
  • Job Syndrome / pathology*
  • Killer Cells, Natural / immunology
  • Killer Cells, Natural / pathology*
  • Male
  • Phenotype
  • Young Adult

Substances

  • DOCK8 protein, human
  • Guanine Nucleotide Exchange Factors
  • Immunoglobulin E