Cell-death signaling and human disease

Curr Opin Immunol. 2003 Jun;15(3):325-31. doi: 10.1016/s0952-7915(03)00042-6.

Abstract

The autoimmune lymphoproliferative syndrome (ALPS) in humans and the lpr mouse strain are the first examples of primary apoptosis defects caused by inherited death-receptor mutations. They illustrate the role of Fas and Fas ligand in the control of autoimmune T-cell and B-cell proliferation. Subsequent analyses of ALPS in humans have highlighted the role of caspase 10 in the induction of apoptosis. The recent identification of a human caspase 8 defect has revealed a potential connection between apoptosis pathways and immune-receptor signaling. The genetic basis of ALPS is extremely complex, as multiple factors are potentially involved in the pathogenesis of this disease, thus offering an interesting model with which to unravel the mechanisms involved in T-cell homeostasis and self-tolerance.

Publication types

  • Review

MeSH terms

  • Animals
  • Apoptosis*
  • Autoimmune Diseases / immunology*
  • Autoimmune Diseases / pathology
  • Fas Ligand Protein
  • Humans
  • Lymphocytes / immunology
  • Lymphoproliferative Disorders / immunology*
  • Lymphoproliferative Disorders / pathology
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / physiology
  • Mice
  • Models, Immunological
  • Signal Transduction
  • Syndrome

Substances

  • FASLG protein, human
  • Fas Ligand Protein
  • Fasl protein, mouse
  • Membrane Glycoproteins