Cutting edge: a naturally occurring mutation in CD1e impairs lipid antigen presentation

J Immunol. 2008 Mar 15;180(6):3642-6. doi: 10.4049/jimmunol.180.6.3642.

Abstract

The human CD1a-d proteins are plasma membrane molecules involved in the presentation of lipid Ags to T cells. In contrast, CD1e is an intracellular protein present in a soluble form in late endosomes or lysosomes and is essential for the processing of complex glycolipid Ags such as hexamannosylated phosphatidyl-myo-inositol, PIM(6). CD1e is formed by the association of beta(2)-microglobulin with an alpha-chain encoded by a polymorphic gene. We report here that one variant of CD1e with a proline at position 194, encoded by allele 4, does not assist PIM(6) presentation to CD1b-restricted specific T cells. The immunological incompetence of this CD1e variant is mainly due to inefficient assembly and poor transport of this molecule to late endosomal compartments. Although the allele 4 of CD1E is not frequent in the population, our findings suggest that homozygous individuals might display an altered immune response to complex glycolipid Ags.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Substitution / genetics
  • Amino Acid Substitution / immunology
  • Animals
  • Antigen Presentation / genetics*
  • Antigen Presentation / immunology*
  • Antigens, CD1 / genetics*
  • Antigens, CD1 / metabolism*
  • Antigens, CD1 / physiology
  • Cell Line, Tumor
  • Clone Cells
  • Endosomes / genetics
  • Endosomes / immunology
  • Endosomes / metabolism
  • Gangliosides / genetics
  • Gangliosides / metabolism
  • Glycolipids / genetics
  • Glycolipids / metabolism
  • Glycolipids / physiology
  • Glycoproteins / genetics
  • Glycoproteins / metabolism*
  • Glycoproteins / physiology
  • Humans
  • Mutation*
  • Polymorphism, Genetic
  • Protein Processing, Post-Translational / immunology
  • Protein Transport / genetics
  • Protein Transport / immunology

Substances

  • Antigens, CD1
  • CD1b antigen
  • CD1e antigen
  • Gangliosides
  • Glycolipids
  • Glycoproteins
  • sialogangliosides