The DOI matches its Crossref record.
ZAP-70 Deficiency in an Autosomal Recessive form of Severe Combined Immunodeficiency
Abstract
Protein tyrosine kinases (PTKs) play an integral role in T cell activation and differentiation. Defects in the Src-family PTKs in mice and in T cell lines have resulted in variable defects in thymic development and in T cell antigen receptor (TCR) signal transduction. Here, three siblings are described with an autosomal recessive form of severe combined immunodeficiency disease (SCID) in which ZAP-70, a non-Src PTK, is absent as a result of mutations in the ZAP-70 gene. This absence is associated with defects in TCR signal transduction, suggesting an important functional role for ZAP-70.
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Citations
Cited by
Protein modules and signalling networks
Pawson, T. (1995) · Nature · doi:10.1038/373573a0 · Cited by 2,420
The SYK tyrosine kinase: A crucial player in diverse biological functions
Mócsai, A., Ruland, J., & Tybulewicz, V. L. J. (2010) · Nature Reviews Immunology · doi:10.1038/nri2765 · Cited by 1,368
Syk tyrosine kinase required for mouse viability and B-cell development
Cheng, A. M., Rowley, B., Pao, W., Hayday, A., Bolen, J. B., & Pawson, T. (1995) · Nature · doi:10.1038/378303a0 · Cited by 528
Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
Okada, S., Markle, J. G., Deenick, E. K., Mele, F., Averbuch, D., Lagos, M., Alzahrani, M., Al-Muhsen, S., Halwani, R., Ma, C. S., et al. (2015) · Science · doi:10.1126/science.aaa4282 · Cited by 413
ZAP-70: an essential kinase in T-cell signaling
Wang, H., Kadlecek, T. A., Au-Yeung, B. B., Goodfellow, H. E. S., Hsu, L. Y., Freedman, T. S., & Weiss, A. (2010) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a002279 · Cited by 395
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Metadata
- Authors
- Chan, A. C., Kadlecek, T. A., Elder, M. E., Filipovich, A. H., Kuo, W.-L., Iwashima, M., Parslow, T. G., & Weiss, A.
- Venue
- Science
- Published
- 1994-06-10
- Volume
- 264
- Issue
- 5165
- Pages
- 1599-1601
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2055444005
- Cited by
- 494
- References
- 0
- FWCI
- 21.23
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: ZAP-70 Deficiency in an Autosomal Recessive form of Severe Combined Immunodeficiency. https://app.cochat.ai/papers/10.1126/science.8202713
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- Chan, A. C., Kadlecek, T. A., Elder, M. E., Filipovich, A. H., Kuo, W.-L., Iwashima, M., Parslow, T. G., & Weiss, A. (1994). ZAP-70 Deficiency in an Autosomal Recessive form of Severe Combined Immunodeficiency. Science. https://doi.org/10.1126/science.8202713
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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.
