The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity
Open accessAbstract
A mutation in ORAI1, the gene encoding the pore-forming subunit of the Ca(2+)-release-activated Ca(2+) (CRAC) channel, abrogates the store-operated entry of Ca(2+) into cells and impairs lymphocyte activation. Stromal interaction molecule 1 (STIM1) in the endoplasmic reticulum activates ORAI1-CRAC channels. We report on three siblings from one kindred with a clinical syndrome of immunodeficiency, hepatosplenomegaly, autoimmune hemolytic anemia, thrombocytopenia, muscular hypotonia, and defective enamel dentition. Two of these patients have a homozygous nonsense mutation in STIM1 that abrogates expression of STIM1 and Ca(2+) influx.
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Citations
Cites
Calcium signalling in lymphocyte activation and disease
Feske, S. (2007) · Nature Reviews Immunology · doi:10.1038/nri2152 · Cited by 1,043
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Cited by
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Molecular Basis of Calcium Signaling in Lymphocytes: STIM and ORAI
Hogan, P. G., Lewis, R. S., & Rao, A. (2010) · Annual Review of Immunology · doi:10.1146/annurev.immunol.021908.132550 · Cited by 760
Self-citationIon channels and transporters in lymphocyte function and immunity
Feske, S., Skolnik, E. Y., & Prakriya, M. (2012) · Nature Reviews Immunology · doi:10.1038/nri3233 · Cited by 441
Self-citationByun, M., Abhyankar, A., Lelarge, V., Plancoulaine, S., Palanduz, A., Telhan, L., Boisson, B., Picard, C., Dewell, S., Zhao, C., et al. (2010) · Journal of Experimental Medicine · doi:10.1084/jem.20101597 · Cited by 299
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Bloch-Zupan, A., Rey, T., Jimenez-Armijo, A., Kawczynski, M., Kharouf, N., O-Rare consortium, Dure-Molla, M. D. L., Noirrit, E., Hernandez, M., Joseph-Beaudin, C., et al. (2023) · Frontiers in Physiology · doi:10.3389/fphys.2023.1130175 · Cited by 74
Metadata
- Authors
- Picard, C., McCarl, C.-A., Papolos, A., Khalil, S., Lüthy, K., Hivroz, C., LeDeist, F., Rieux-Laucat, F., Rechavi, G., Rao, A., Fischer, A., & Feske, S.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2009-05-07
- Volume
- 360
- Issue
- 19
- Pages
- 1971-1980
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2098465830
- Cited by
- 510
- References
- 1
- FWCI
- 15.02
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Picard, C., McCarl, C.-A., Papolos, A., Khalil, S., Lüthy, K., Hivroz, C., LeDeist, F., Rieux-Laucat, F., Rechavi, G., Rao, A., Fischer, A., & Feske, S. (2009). STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity. New England Journal of Medicine. https://doi.org/10.1056/nejmoa0900082
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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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