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 - PubMed (original) (raw)

. 2009 Mar 26;113(13):3027-30.

doi: 10.1182/blood-2008-09-179630. Epub 2009 Jan 27.

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 Thomas, Francoise Le Deist, Capucine Picard, Alain Fischer, Frédéric Rieux-Laucat

Affiliations

Free article

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

Aude Magerus-Chatinet et al. Blood. 2009.

Free article

Abstract

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.

PubMed Disclaimer

Publication types

MeSH terms

Substances

LinkOut - more resources