title: Lack of KIR2DL4 gene in a fertile Caucasian woman.
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.
authors.affiliation: Department of Clinical Immunology, Ludwik Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland.
authors.forename: I
authors.initials: I
authors.lastname: Nowak
authors.forename: E
authors.initials: E
authors.lastname: Majorczyk
authors.forename: R
authors.initials: R
authors.lastname: Płoski
authors.forename: D
authors.initials: D
authors.lastname: Senitzer
authors.forename: J Y
authors.initials: JY
authors.lastname: Sun
authors.forename: P
authors.initials: P
authors.lastname: Kuśnierczyk
mesh_terms: D015331:Cohort Studies; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005298:Fertility; D017353:Gene Deletion; D005838:Genotype; D059951:HLA-G Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007694:Killer Cells, Natural / Q000166:cytology; D008024:Ligands; D008957:Models, Genetic; D011044:Poland; D054345:Receptors, KIR2DL4 / Q000235:genetics*; D044465:White People
chemical_list: D017931:DNA Primers; D059951:HLA-G Antigens; C515079:KIR2DL4 protein, human; D008024:Ligands; D054345:Receptors, KIR2DL4