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Article

Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.

Blood - 1 Nov 2006

Clementi Rita, Chiocchetti Annalisa, Cappellano Giuseppe, Cerutti Elisa, Ferretti Massimo, Orilieri Elisabetta, Dianzani Irma, Ferrarini Marina, Bregni Marco, Danesino Cesare, Bozzi Valeria, Putti Maria Caterina, Cerutti Franco, Cometa Angela, Locatelli Franco, Maccario Rita, Ramenghi Ugo, Dianzani Umberto

Abstract excerpt

Mutations decreasing function of the Fas death receptor cause the autoimmune lymphoproliferative syndrome (ALPS) with autoimmune manifestations, spleen/lymph node enlargement, and expansion of CD4/CD8-negative T cells. Dianzani Autoimmune Lymphoproliferative Disease (DALD) is a variant lacking this expansion. Perforin is involved in cell-mediated cytotoxicity and its biallelic mutations cause familial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16720836
DOI: 10.1182/blood-2006-02-001412

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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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