The DOI matches its Crossref record.
Mutations in Fas Associated with Human Lymphoproliferative Syndrome and Autoimmunity
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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Citations
Cited by
Nagata, S. (1997) · Cell · doi:10.1016/s0092-8674(00)81874-7 · Cited by 4,938
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Locksley, R. M., Killeen, N., & Lenardo, M. J. (2001) · Cell · doi:10.1016/s0092-8674(01)00237-9 · Cited by 3,650
Identification and characterization of a new member of the TNF family that induces apoptosis
Wiley, S. R., Schooley, K., Smolak, P. J., Din, W. S., Huang, C.-P., Nicholl, J. K., Sutherland, G. R., Smith, T. D., Rauch, C., Smith, C. A., et al. (1995) · Immunity · doi:10.1016/1074-7613(95)90057-8 · Cited by 2,900
Victora, G. D., & Nussenzweig, M. C. (2012) · Annual Review of Immunology · doi:10.1146/annurev-immunol-020711-075032 · Cited by 1,878
Interleukin-2 receptor α chain regulates the size and content of the peripheral lymphoid compartment
Willerford, D. M., Chen, J., Ferry, J. A., Davidson, L., Ma, A., & Alt, F. W. (1995) · Immunity · doi:10.1016/1074-7613(95)90180-9 · Cited by 1,080
Metadata
- Authors
- Rieux-Laucat, F., Le Deist, F., Hivroz, C., Roberts, I. A. G., Debatin, K. M., Fischer, A., & de Villartay, J. P.
- Venue
- Science
- Published
- 1995-06-02
- Volume
- 268
- Issue
- 5215
- Pages
- 1347-1349
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2085173450
- Cited by
- 1,297
- References
- 0
- FWCI
- 35.76
- Type
- journal article
- Language
- en
- Open access
- closed
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- The paper
- Rieux-Laucat, F., Le Deist, F., Hivroz, C., Roberts, I. A. G., Debatin, K. M., Fischer, A., & de Villartay, J. P. (1995). Mutations in Fas Associated with Human Lymphoproliferative Syndrome and Autoimmunity. Science. https://doi.org/10.1126/science.7539157
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
