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Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.

Blood - 1 Feb 1997

Bettinardi A, Brugnoni D, Quiròs-Roldan E, Malagoli A, La Grutta S, Correra A, Notarangelo L D

Abstract excerpt

Programmed cell death (or apoptosis) is a physiological process essential to the normal development and homeostatic maintenance of the immune system. The Fas/Apo-1 receptor plays a crucial role in the regulation of apoptosis, as demonstrated by lymphoproliferation in MRL-lpr/lpr mice and by the recently described autoimmune lymphoproliferative syndrome (ALPS) in humans, both of which are due to mutations in the...

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PMID: 9028321

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

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Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.PMID 9028321Read ↗

Missense Mutations in the Fas Gene Resulting in Autoimmune Lymphoproliferative Syndrome: A Molecular and Immunological AnalysisSemantic proximity Read ↗

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).Semantic proximity Read ↗

Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype.Semantic proximity Read ↗

Clinical, Immunologic, and Genetic Features of an Autoimmune Lymphoproliferative Syndrome Associated With Abnormal Lymphocyte ApoptosisSemantic proximity Read ↗

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.Semantic proximity Read ↗

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.Semantic proximity Read ↗

A genetic disorder of lymphocyte apoptosis involving the fas pathway: the autoimmune lymphoproliferative syndrome.Semantic proximity Read ↗

ALPS: an autoimmune human lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.Semantic proximity Read ↗

Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia.Semantic proximity Read ↗

[The autoimmune lymphoproliferative syndrome: a disorder of programmed cell death].Semantic proximity Read ↗

Autoimmune lymphoproliferative syndrome (ALPS) due to a novel dominant negative germline mutation in the FAS gene.Semantic proximity Read ↗

Autoimmune lymphoproliferative syndrome with somatic Fas mutations.Semantic proximity Read ↗

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