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

par Magerus-Chatinet, Aude;Stolzenberg, Marie-Claude;Loffredo, Maria S;Neven, Bénédicte;Schaffner, Catherine;Ducrot, Nicolas;Arkwright, Peter D;Bader-Meunier, Brigitte;Barbot, José;Blanche, Stéphane;Casanova, J.L.;Debré, Marianne;Ferster, Alina ;Fieschi, C.;Florkin, Benoit;Galambrun, Claire;Hermine, Olivier;Lambotte, Olivier;Solary, Eric;Thomas, Caroline;Le Deist, Francoise;Picard, Claude;Fischer, A.;Rieux-Laucat, F
Référence Blood, 113, 13, page (3027-3030)
Publication Publié, 2009-03

Article révisé par les pairs

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Résumé :

Autoimmune lymphoproliferative syndrome (ALPS) is characterized by splenomegaly, lymphadenopathy, hypergammaglobulinemia, accumulation of double-negative TCRalphabeta(+) 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.