The DOI matches its Crossref record; 152 of the 152 references it cites were found in a registry or an index.
Inborn Errors of Human JAKs and STATs
Open accessAbstract
Inborn errors of the genes encoding two of the four human JAKs (JAK3 and TYK2) and three of the six human STATs (STAT1, STAT3, and STAT5B) have been described. We review the disorders arising from mutations in these five genes, highlighting the way in which the molecular and cellular pathogenesis of these conditions has been clarified by the discovery of inborn errors of cytokines, hormones, and their receptors, including those interacting with JAKs and STATs. The phenotypic similarities between mice and humans lacking individual JAK-STAT components suggest that the functions of JAKs and STATs are largely conserved in mammals. However, a wide array of phenotypic differences has emerged between mice and humans carrying bi-allelic null alleles of JAK3, TYK2, STAT1, or STAT5B. Moreover, the high level of allelic heterogeneity at the human JAK3, STAT1, and STAT3 loci has revealed highly diverse immunological and clinical phenotypes, which had not been anticipated.
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Cites
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O'Shea, J. J., Holland, S. M., & Staudt, L. M. (2013) · New England Journal of Medicine · doi:10.1056/nejmra1202117 · Cited by 927
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Metadata
- Authors
- Casanova, J.-L., Holland, S. M., & Notarangelo, L. D.
- Venue
- Immunity
- Publisher
- Elsevier BV
- Published
- 2012-04
- Volume
- 36
- Issue
- 4
- Pages
- 515-528
- ISSN
- 1074-7613 (ISSN-L)
- OpenAlex
- W2084409051
- Cited by
- 320
- References
- 152
- FWCI
- 13.68
- Type
- journal article
- Language
- en
- Open access
- bronze
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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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