Characterization of trisomic natural killer cell abnormalities in a patient with constitutional trisomy 8 mosaicism.
Malignancies found in children and adults with constitutional trisomy 8 mosaicism (CT8M) could be in part the consequence of dysfunction of trisomic immune cells. An adult patient exhibiting trisomy in the entire natural killer (NK) cell population has made possible the characterization of trisomy 8-positive NK cells. The study showed normal cytotoxic activity but predominance of an immunosenescent phenotype (CD56(dim)CD94/NKG2(bright)) characterized by a weak response to IL-2, increased upregulation of CD95/Fas, and impaired TNF-alpha production. As these defects may contribute to the escape and expansion of neoplastic cells, the authors hypothesize that cancer predisposition in CT8M may be partly a result of altered immunosurveillance.
Marti
Salvador
S
Area of Immunology, Miguel Hernandez University, Sant Joan, Alicante, Spain.
Galan
Francisco M
FM
Casero
Jesus M
JM
Merino
Jaime
J
Rubio
Gonzalo
G
D000328:Adult; D015703:Antigens, CD / Q000276:immunology; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics / Q000276:immunology*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007157:Immunologic Surveillance / Q000235:genetics; D007376:Interleukin-2 / Q000494:pharmacology; D007694:Killer Cells, Natural / Q000276:immunology* / Q000473:pathology; D009030:Mosaicism; D009369:Neoplasms / Q000235:genetics / Q000276:immunology*; D014314:Trisomy / Q000235:genetics / Q000276:immunology*; D019139:Tumor Escape / Q000235:genetics; D015854:Up-Regulation / Q000187:drug effects / Q000276:immunology
D015703:Antigens, CD; C508594:IL2 protein, human; D007376:Interleukin-2