Autoimmune lymphoproliferative syndrome with somatic Fas mutations

Eliska Holzelova, Cédric Vonarbourg, Marie Claude Stolzenberg, Peter D. Arkwright, Françoise Selz, Anne Marie Prieur, Stéphane Blanche, Jirina Bartunkova, Etienne Vilmer, Alain Fischer, Françoise Le Deist, Frédéric Rieux-Laucat

    Research output: Contribution to journalArticlepeer-review


    BACKGROUND: Impaired Fas-induced apoptosis of lymphocytes in vitro is a principal feature of the auto immune lymphoproliferative syndrome (ALPS). We studied six children with ALPS whose lymphocytes had normal sensitivity to Fas-induced apoptosis in vitro. METHODS: Susceptibility to Fas-mediated apoptosis and the Fas gene were analyzed in purified subgroups of T cells and other mononuclear cells from six patients with ALPS type III. RESULTS: Heterozygous dominant Fas mutations were detected in the polyclonal double-negative T cells from all six patients. In two patients, these mutations were found in a fraction of CD4+ and CD8+ T cells, monocytes, and CD34+ hematopoietic precursors, but not in hair or mucosal epithelial cells. CONCLUSIONS: Somatic heterozygous mutations of Fas can cause a sporadic form of ALPS by allowing lymphoid precursors to resist the normal process of cell death. Copyright © 2004 Massachusetts Medical Society.
    Original languageEnglish
    Pages (from-to)1409-1418
    Number of pages9
    JournalNew England Journal Of Medicine
    Issue number14
    Publication statusPublished - 30 Sept 2004


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