{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T11:16:02Z","timestamp":1774696562559,"version":"3.50.1"},"reference-count":17,"publisher":"American Society of Hematology","issue":"13","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2009,3,26]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autoimmune lymphoproliferative syndrome (ALPS) is characterized by splenomegaly, lymphadenopathy, hypergammaglobulinemia, accumulation of double-negative TCR\u03b1\u03b2+ CD4\u2212CD8\u2212 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.<\/jats:p>","DOI":"10.1182\/blood-2008-09-179630","type":"journal-article","created":{"date-parts":[[2009,1,28]],"date-time":"2009-01-28T04:44:26Z","timestamp":1233117866000},"page":"3027-3030","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":124,"title":["FAS-L, IL-10, and double-negative CD4\u2212CD8\u2212 TCR \u03b1\/\u03b2+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function"],"prefix":"10.1182","volume":"113","author":[{"given":"Aude","family":"Magerus-Chatinet","sequence":"first","affiliation":[{"name":"Inserm U768, Paris, France;"},{"name":"Universit\u00e9 Paris Descartes, Paris, 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