FAS-L, IL-10, and double-negative CD4 -CD8 - TCR α/β + T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

Aude Magerus-Chatinet, Marie Claude Stolzenberg, Maria S. Loffredo, Bénédicte Neven, Catherine Schaffner, Nicolas Ducrot, Peter D. Arkwright, Brigitte Bader-Meunier, José Barbot, Stéphane Blanche, Jean Laurent Casanova, Marianne Debré, Alina Ferster, Claire Fieschi, Benoit Florkin, Claire Galambrun, Olivier Hermine, Olivier Lambotte, Eric Solary, Caroline ThomasFrancoise Le Deist, Capucine Picard, Alain Fischer, Frédéric Rieux-Laucat

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    Abstract

    Autoimmune lymphoproliferative syndrome (ALPS) is characterized by splenomegaly, lymphdenopathy, hypergammaglobu-linemia, accumulation of double-negative TCRαβ+ CD4 -CD8 - T cells (DNT cells), and autoimmunity. Previously, DNT cell detection and a functional defect of T cells in a FAS-induced apoptosis test in vitro had been used for ALPS diagnosis. However, a functional defect can also be detected in mutation-positive relatives (MPRs) who remain free of any ALPS-related disease. In contrast, lymphocytes from patients carrying a somatic mutation of FAS exhibit normal sensitivity to FAS-induced apoptosis in vitro. We assessed the soluble FAS-L concentration in the plasma of ALPS patients carrying FAS mutations. Overall, we showed that determination of the FAS-L represents, together with the IL-10 concentration and the DNT cell percentage, a reliable tool for the diagnosis of ALPS. © 2009 by The American Society of Hematology.
    Original languageEnglish
    Pages (from-to)3027-3030
    Number of pages3
    JournalBlood
    Volume113
    Issue number13
    DOIs
    Publication statusPublished - 26 Mar 2009

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