The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Human immune disorder arising from mutation of the α chain of the interleukin-2 receptor
Open accessAbstract
Profound cellular immunodeficiency occurs as the result of mutations in proteins involved in both the differentiation and function of mature lymphoid cells. We describe here a novel human immune aberration arising from a truncation mutation of the interleukin-2 receptor α chain (CD25), a subunit of the tripartite high-affinity receptor for interleukin 2. This immunodeficiency is characterized by decreased numbers of peripheral T cells displaying abnormal proliferation but normal B cell development. Extensive lymphocytic infiltration of tissues, including lung, liver, gut, and bone, is observed, accompanied by tissue atrophy and inflammation. Although mature T cells are present, the absence of CD25 does affect the differentiation of thymocytes. While displaying normal development of CD2, CD3, CD4, and CD8 expression, CD25-deficient cortical thymocytes do not express CD1, and furthermore they fail to normally down-regulate levels of the anti-apoptotic protein bcl-2.
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Sakaguchi, S., Sakaguchi, N., Asano, M., Itoh, M., & Toda, M. (1995) · The Journal of Immunology · doi:10.4049/jimmunol.155.3.1151 · Cited by 5,608
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Malek, T. R. (2008) · Annual Review of Immunology · doi:10.1146/annurev.immunol.26.021607.090357 · Cited by 1,079
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Metadata
- Authors
- Sharfe, N., Dadi, H. K., Shahar, M., & Roifman, C. M.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1997-04
- Volume
- 94
- Issue
- 7
- Pages
- 3168-3171
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2050013893
- Cited by
- 409
- References
- 1
- FWCI
- 4.72
- Type
- journal article
- Language
- en
- Open access
- green
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- Sharfe, N., Dadi, H. K., Shahar, M., & Roifman, C. M. (1997). Human immune disorder arising from mutation of the α chain of the interleukin-2 receptor. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.94.7.3168
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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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