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Article

Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib.

BMC medical genetics - 2 Jul 2007

Bi Lilia L, Pan George, Atkinson T Prescott, Zheng Lixin, Dale Janet K, Makris Christopher, Reddy Vishnu, McDonald Jay M, Siegel Richard M, Puck Jennifer M, Lenardo Michael J, Straus Stephen E

Abstract excerpt

BACKGROUND: Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance due primarily to genetic defects in Fas (CD95/APO-1; TNFRSF6), a cell surface receptor that regulates apoptosis and its signaling apparatus. METHODS: Fas ligand gene mutations from ALPS patients were identified through cDNA and genomic DNA sequencing. Molecular and biochemical assessment...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17605793
DOI: 10.1186/1471-2350-8-41
PMCID: PMC1931585

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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