Role of genetic variations on MHC class I antigen-processing genes in human cancer and viral-mediated diseases

Valerio D'Alicandro1, Paolo Romania1, Ombretta Melaiu2

  • 1Immuno-Oncology Laboratory, Pediatric Haematology/Oncology Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Molecular Immunology
|April 8, 2018
PubMed

Cytotoxic T lymphocytes constantly monitor peptide-MHC class I complexes on the cell surface to eliminate transformed and virally infected cells expressing peptides derived from abnormal proteins. The generation of antigenic peptides and their loading on MHC class I molecules is a multistep process involving different molecules that constitute the so-called antigen processing and presentation machinery (APM). To avoid immune-mediated elimination, human tumors and pathogens have adopted different strategies including loss of MHC class I expression and dysregulation of APM genes and proteins. Here, we summarize recent knowledge on genetic variations in APM genes and their association with cancer development and viral-mediated diseases.

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