Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

  title={Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome},
  author={G. H. Fisher and F. J. Rosenberg and S. Straus and J. Dale and L. Middelton and A. Lin and W. Strober and M. Lenardo and J. Puck},
  • G. H. Fisher, F. J. Rosenberg, +6 authors J. Puck
  • Published 1995
  • Biology, Medicine
  • Cell
  • Five unrelated children are described with a rare autoimmune lymphoproliferative syndrome (ALPS) characterized by massive nonmalignant lymphadenopathy, autoimmune phenomena, and expanded populations of TCR-CD3+CD4-CD8- lymphocytes. These findings, suggesting a genetic defect in the ability of T lymphocytes to respond to normal immunoregulatory mechanisms, prompted an evaluation of lymphocyte apoptosis. Each child had defective Fas-mediated T lymphocyte apoptosis associated with a unique… CONTINUE READING
    1,442 Citations

    Paper Mentions

    Observational Clinical Trial
    The purposes of this study are to 1) identify the genes responsible for certain immune disorders, 2) learn about the medical problems they cause, and 3) learn how to predict who is… Expand
    ConditionsDOK 8, GATA2, Immunodeficiency, (+2 more)
    Autoimmune lymphoproliferative syndrome with somatic Fas mutations.
    • 244
    • PDF
    Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
    • 201
    The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions
    • 20


    A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease.
    • 280
    • PDF
    A specific intercellular pathway of apoptotic cell death is defective in the mature peripheral T cells of autoimmune lpr and gld mice
    • 85
    Autoimmunity in mice bearing lprcg: a novel mutant gene.
    • 38
    Mature T cells of autoimmune lpr/lpr mice have a defect in antigen-stimulated suicide.
    • 416
    • PDF
    Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
    • 42
    • PDF
    Mutations in the Fas antigen gene in lpr mice.
    • S. Nagata
    • Biology, Medicine
    • Seminars in immunology
    • 1994
    • 67
    Murine models of systemic lupus erythematosus.
    • 879