Autoimmunity as the consequence of a spontaneous mutation in Rasgrp1

Immunity. 2003 Aug;19(2):243-55. doi: 10.1016/s1074-7613(03)00209-7.

Abstract

A mouse strain was identified with a recessive genetic lesion, which spontaneously developed a lymphoproliferative autoimmune syndrome exhibiting features of systemic lupus erythematosus. Positional mapping of the disease-associated locus revealed a lesion in Rasgrp1 that prevented the translation of the RasGRP1 protein. T cells from these mice failed to activate Ras or proliferate vigorously following antigen encounter and showed defects in positive selection. Peripheral RasGRP1lag T cells spontaneously adopted a memory phenotype and were able to transfer disease to lymphopenic recipient mice. CD4+ T cells accumulated in the lymphoid tissues of older RasGRP1lag mice and were resistant to activation-induced cell death. RasGRP1lag B cells were functionally normal, but activated B cells were detected in older mice, as were autoantibodies directed against self-antigens. Our findings indicate that Ras signaling pathways are required to maintain T cell tolerance and to prevent autoimmune disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Retracted Publication

MeSH terms

  • Animals
  • Apoptosis
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology
  • Autoimmune Diseases / pathology
  • Autoimmunity / genetics*
  • B-Lymphocytes / immunology
  • B-Lymphocytes / pathology
  • CD4-Positive T-Lymphocytes / immunology
  • CD4-Positive T-Lymphocytes / pathology
  • Cell Division
  • Cytokines / biosynthesis
  • DNA-Binding Proteins / genetics*
  • Guanine Nucleotide Exchange Factors*
  • Immunologic Memory
  • Lupus Erythematosus, Systemic / genetics
  • Lupus Erythematosus, Systemic / immunology
  • Lupus Erythematosus, Systemic / pathology
  • Lymphocyte Activation
  • MAP Kinase Signaling System / genetics
  • Mice
  • Mice, Mutant Strains
  • Mutation*
  • Phenotype
  • Self Tolerance / genetics

Substances

  • Cytokines
  • DNA-Binding Proteins
  • Guanine Nucleotide Exchange Factors
  • Rasgrp1 protein, mouse