Lack of KIR2DL4 gene in a fertile Caucasian woman

Tissue Antigens. 2011 Aug;78(2):115-9. doi: 10.1111/j.1399-0039.2011.01711.x. Epub 2011 May 29.

Abstract

Killer cell immunoglobulin-like receptor (KIR2DL4) gene is present in virtually all humans. It encodes a receptor present on uterine and decidual natural killer (NK) cells and some peripheral blood NK cells. Its only known ligand is human leukocyte antigen-G molecule expressed on extravillous trophoblasts invading the decidua. Therefore, KIR2DL4 has been regarded as a molecule important for successful pregnancy. However, a multiparous woman from Africa, lacking KIR2DL4 gene, was described suggesting that this gene is not absolutely required for successful human reproduction. Here, we describe a Polish woman who delivered a child and who is not only lacking KIR2DL4 gene, but also possessing a KIR genotype virtually identical to that of the African woman mentioned above. Their genotypes are compared with few other KIR2DL4-negative genotypes and haplotypes described so far.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cohort Studies
  • DNA Primers / genetics
  • Female
  • Fertility*
  • Gene Deletion*
  • Genotype
  • HLA-G Antigens / genetics
  • Haplotypes
  • Humans
  • Killer Cells, Natural / cytology
  • Ligands
  • Models, Genetic*
  • Poland
  • Receptors, KIR2DL4 / genetics*
  • White People

Substances

  • DNA Primers
  • HLA-G Antigens
  • KIR2DL4 protein, human
  • Ligands
  • Receptors, KIR2DL4