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N Engl J Med. 2004 Sep 30;351(14):1409-18.

Autoimmune lymphoproliferative syndrome with somatic Fas mutations.

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  • 1INSERM Unité 429, Hôpital Necker-Enfants Malades, Paris.

Abstract

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 with ALPS type III.

RESULTS:

Heterozygous dominant Fas mutations were detected in the polyclonal double-negative T cells from all six patients. In two patients, these mutations were found in a fraction of CD4+ and CD8+ T cells, monocytes, and CD34+ hematopoietic precursors, but not in hair or mucosal epithelial cells.

CONCLUSIONS:

Somatic heterozygous mutations of Fas can cause a sporadic form of ALPS by allowing lymphoid precursors to resist the normal process of cell death.

Copyright 2004 Massachusetts Medical Society

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PMID:
15459302
[PubMed - indexed for MEDLINE]
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