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Article

Autoimmune lymphoproliferative syndrome with somatic Fas mutations.

The New England journal of medicine - 30 Sept 2004

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

Abstract excerpt

BACKGROUND: Impaired Fas-induced apoptosis of lymphocytes in vitro is a principal feature of the autoimmune 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...

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Source

Identifiers

PMID: 15459302
DOI: 10.1056/NEJMoa040036

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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