Mutations in fas associated with human lymphoproliferative syndrome and autoimmunity
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 Fa...
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| Main Authors: | , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2 Jun 1995
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| In: |
Science
Year: 1995, Volume: 268, Issue: 5215, Pages: 1347-1349 |
| ISSN: | 1095-9203 |
| DOI: | 10.1126/science.7539157 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1126/science.7539157 Verlag, lizenzpflichtig, Volltext: https://www.science.org/doi/10.1126/science.7539157 
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| Author Notes: | F. Rieux-Laucat, F. Le Deist, C. Hivroz, I.A.G. Roberts, K.M. Debatin, A. Fischer, J.P. de Villartay |
| Summary: | 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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| Item Description: | Gesehen am 17.09.2024 |
| Physical Description: | Online Resource |
| ISSN: | 1095-9203 |
| DOI: | 10.1126/science.7539157 |