Human disease mutations highlight the inhibitory function of TIM-3

Nat Genet. 2018 Dec;50(12):1640-1641. doi: 10.1038/s41588-018-0289-3.

Abstract

A new study identifies loss-of-function mutations in HAVCR2, which encodes TIM-3, in patients with a rare cutaneous T cell lymphoma associated with aberrant immunological activation. These mutations lead to loss of the TIM-3 immunological checkpoint, thus promoting inflammation and malignancy.

Publication types

  • Comment

MeSH terms

  • Germ Cells
  • Germ-Line Mutation
  • Hepatitis A Virus Cellular Receptor 2
  • Humans
  • Lymphoma, T-Cell*
  • Panniculitis*

Substances

  • HAVCR2 protein, human
  • Hepatitis A Virus Cellular Receptor 2