Characterization of trisomic natural killer cell abnormalities in a patient with constitutional trisomy 8 mosaicism.

作者: Salvador Marti , Francisco M. Galan , Jesus M. Casero , Jaime Merino , Gonzalo Rubio

DOI: 10.1080/08880010801890135

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摘要: Malignancies found in children and adults with constitutional trisomy 8 mosaicism (CT8M) could be part the consequence of dysfunction trisomic immune cells. An adult patient exhibiting entire natural killer (NK) cell population has made possible characterization 8-positive NK The study showed normal cytotoxic activity but predominance an immunosenescent phenotype (CD56(dim)CD94/NKG2(bright)) characterized by a weak response to IL-2, increased upregulation CD95/Fas, impaired TNF-alpha production. As these defects may contribute escape expansion neoplastic cells, authors hypothesize that cancer predisposition CT8M partly result altered immunosurveillance.

参考文章(28)
Raza, Hypothesis: myelodysplastic syndromes may have a viral etiology International Journal of Hematology. ,vol. 68, pp. 245- 256 ,(1998) , 10.1016/S0925-5710(98)00051-6
Af Brady, Cs Waters, Mj Pocha, La Brueton, Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism. Clinical Genetics. ,vol. 58, pp. 142- 146 ,(2000) , 10.1034/J.1399-0004.2000.580209.X
Anna Guarini, Massimo Breccia, Enrico Montefusco, Maria Concetta Petti, Alessia Zepparoni, Antonella Vitale, Robin Foa, Phenotypic and functional characterization of the host immune compartment of chronic myeloid leukaemia patients in complete haematological remission. British Journal of Haematology. ,vol. 113, pp. 136- 142 ,(2001) , 10.1046/J.1365-2141.2001.02724.X
Peter Nicolaidis, Dimitris Vassilopoulos, Dimitris Avramopoulos, Maria Grigoriadou, Beate Albrecht, Eberhard Passarge, Göran Annerén, Elisabeth Blennow, Niels Clausen, Angeliki Galla-Voumvouraki, Aspasia Tsezou, Sofia Kitsiou-Tzeli, Johanne M Hahnemann, Jens M Hertz, Gunnar Houge, Miloslav Kuklík, Milan Macek, Didier Lacombe, Konstantin Miller, Anne Moncla, I López Pajares, Philippos C Patsalis, Marguerite Prieur, Michel Vekemans, Gabriela von Beust, Karen Brøndum-Nielsen, Michael B Petersen, Georgia Karadima, Merete Bugge, Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism European Journal of Human Genetics. ,vol. 6, pp. 432- 438 ,(1998) , 10.1038/SJ.EJHG.5200212
Megan A Cooper, Todd A Fehniger, Michael A Caligiuri, The biology of human natural killer-cell subsets. Trends in Immunology. ,vol. 22, pp. 633- 640 ,(2001) , 10.1016/S1471-4906(01)02060-9
Charles T. Lutz, Mikel B. Moore, Sarah Bradley, Brent J. Shelton, Susan K. Lutgendorf, Reciprocal age related change in natural killer cell receptors for MHC class I. Mechanisms of Ageing and Development. ,vol. 126, pp. 722- 731 ,(2005) , 10.1016/J.MAD.2005.01.004
Laura Seghezzi, Emanuela Maserati, Antonella Minelli, Claudia Dellavecchia, Paola Addis, Franco Locatelli, Adriano Angioni, Pietro Balloni, Crescenzo Miano, Pietro Cavalli, Cesare Danesino, Francesco Pasquali, Constitutional trisomy 8 as first mutation in multistep carcinogenesis: Clinical, cytogenetic, and molecular data on three cases Genes, Chromosomes and Cancer. ,vol. 17, pp. 94- 101 ,(1996) , 10.1002/(SICI)1098-2264(199610)17:2<94::AID-GCC4>3.0.CO;2-W
Christine A. Biron, Kevin S. Byron, John L. Sullivan, Severe herpesvirus infections in an adolescent without natural killer cells. The New England Journal of Medicine. ,vol. 320, pp. 1731- 1735 ,(1989) , 10.1056/NEJM198906293202605
J-J Kiladjian, E Bourgeois, I Lobe, T Braun, G Visentin, J-H Bourhis, P Fenaux, S Chouaib, A Caignard, Cytolytic function and survival of natural killer cells are severely altered in myelodysplastic syndromes Leukemia. ,vol. 20, pp. 463- 470 ,(2006) , 10.1038/SJ.LEU.2404080