title: Characterization of trisomic natural killer cell abnormalities in a patient with constitutional trisomy 8 mosaicism.
abstract: 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.
authors: Area of Immunology, Miguel Hernandez University, Sant Joan, Alicante, Spain.
authors: Salvador
authors: S
authors: Marti
authors: Francisco M
authors: FM
authors: Galan
authors: Jesus M
authors: JM
authors: Casero
authors: Jaime
authors: J
authors: Merino
authors: Gonzalo
authors: G
authors: Rubio
mesh_terms: 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
chemical_list: D015703:Antigens, CD; C508594:IL2 protein, human; D007376:Interleukin-2