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Article

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

American journal of human genetics - 1 Apr 1999

Jackson C E, Fischer R E, Hsu A P, Anderson S M, Choi Y, Wang J, Dale J K, Fleisher T A, Middelton L A, Sneller M C, Lenardo M J, Straus S E, Puck J M

Abstract excerpt

Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance. Most patients have a heterozygous mutation in the APT1 gene, which encodes Fas (CD95, APO-1), mediator of an apoptotic pathway crucial to lymphocyte homeostasis. Of 17 unique APT1 mutations in unrelated ALPS probands, 12 (71%) occurred in exons 7-9, which encode the intracellular portion of Fas. In...

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Identifiers

PMID: 10090885
DOI: 10.1086/302333
PMCID: PMC1377824

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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