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. 1995 Jun 2;268(5215):1347-9.
doi: 10.1126/science.7539157.

Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity

F Rieux-Laucat  1 , F Le Deist, C Hivroz, I A Roberts, K M Debatin, A Fischer, J P de Villartay
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Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity

F Rieux-Laucat et al. Science. .

Abstract

Fas (also known as Apo1 and CD95) is a cell surface receptor involved in apoptotic cell death. Fas expression and function were analyzed in three children (including two siblings) with a lymphoproliferative syndrome, two of whom also had autoimmune disorders. A large deletion in the gene encoding Fas and no detectable cell surface expression characterized the most affected patient. Clinical manifestations in the two related patients were less severe: Fas-mediated apoptosis was impaired and a deletion within the intracytoplasmic domain was detected. These findings illustrate the crucial regulatory role of Fas and may provide a molecular basis for some autoimmune diseases in humans.

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