The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
Mutation of Jak3 in a Patient with SCID: Essential Role of Jak3 in Lymphoid Development
Open accessAbstract
Males with X-linked severe combined immunodeficiency (XSCID) have defects in the common cytokine receptor γ chain (γ c ) gene that encodes a shared, essential component of the receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15. The Janus family tyrosine kinase Jak3 is the only signaling molecule known to be associated with γ c , so it was hypothesized that defects in Jak3 might cause an XSCID-like phenotype. A girl with immunological features indistinguishable from those of XSCID was therefore selected for analysis. An Epstein-Barr virus (EBV)-transformed cell line derived from her lymphocytes had normal γ c expression but lacked Jak3 protein and had greatly diminished Jak3 messenger RNA. Sequencing revealed a different mutation on each allele: a single nucleotide insertion resulting in a frame shift and premature termination in the Jak3 JH4 domain and a nonsense mutation in the Jak3 JH2 domain. The lack of Jak3 expression correlated with impaired B cell signacrcling, as demonstrated by the inability of IL-4 to activate Stat6 in the EBV-transformed cell line from the patient. These observations indicate that the functions of γ c are dependent on Jak3 and that Jak3 is essential for lymphoid development and signaling.
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Cites
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Cited by
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Metadata
- Authors
- Russell, S. M., Tayebi, N., Nakajima, H., Riedy, M. C., Roberts, J. L., Aman, M. J., Migone, T.-S., Noguchi, M., Markert, M. L., Buckley, R. H., O'Shea, J. J., & Leonard, W. J.
- Venue
- Science
- Published
- 1995-11-03
- Volume
- 270
- Issue
- 5237
- Pages
- 797-800
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2038705787
- Cited by
- 803
- References
- 27
- FWCI
- 16.91
- Type
- journal article
- Language
- en
- Open access
- green
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- Russell, S. M., Tayebi, N., Nakajima, H., Riedy, M. C., Roberts, J. L., Aman, M. J., Migone, T.-S., Noguchi, M., Markert, M. L., Buckley, R. H., O'Shea, J. J., & Leonard, W. J. (1995). Mutation of Jak3 in a Patient with SCID: Essential Role of Jak3 in Lymphoid Development. Science. https://doi.org/10.1126/science.270.5237.797
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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