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The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

Open access
Kuehn, Hye Sun, Ouyang, Weiming, Lo, Bernice, Deenick, Elissa K., Niemela, Julie E., Avery, Danielle T., Schickel, Jean-Nicolas, Tran, Dat Q., Stoddard, Jennifer, Zhang, Yu, Frucht, David M., Dumitriu, Bogdan, Scheinberg, Phillip, Folio, Les R., Frein, Cathleen A., Price, Susan, Koh, Christopher, Heller, Theo, Seroogy, Christine M., Huttenlocher, Anna, Rao, V. Koneti, Su, Helen C., Kleiner, David, Notarangelo, Luigi D., Rampertaap, Yajesh, Olivier, Kenneth N., McElwee, Joshua, Hughes, Jason, Pittaluga, Stefania, Oliveira, Joao B., Meffre, Eric, Fleisher, Thomas A., Holland, Steven M., Lenardo, Michael J., Tangye, Stuart G., Uzel, Gulbu·2014·Science

Abstract

Beware of T cells that don't know how to stop: During an infection, T cells divide extensively and secrete proteins that can severely damage tissues. But T cells know when to stop—they express proteins on their surface such as CTLA4, which put on the brakes. Kuehn et al. now report genetic evidence of the importance of CTLA4 in humans (see the Perspective by Rieux-Laucat and Casanova). They identified six patients with mutations in one copy of CTLA4 . Patients presented with symptoms of an overzealous immune response, with immune cells infiltrating their organs. The findings support the idea that CTLA4 tells the immune system when enough is enough. Science , this issue p. 1623 ; see also p. 1560

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Metadata

Authors
Kuehn, H. S., Ouyang, W., Lo, B., Deenick, E. K., Niemela, J. E., Avery, D. T., Schickel, J.-N., Tran, D. Q., Stoddard, J., Zhang, Y., Frucht, D. M., Dumitriu, B., Scheinberg, P., Folio, L. R., Frein, C. A., Price, S., Koh, C., Heller, T., Seroogy, C. M., Huttenlocher, A., Rao, V. K., Su, H. C., Kleiner, D., Notarangelo, L. D., Rampertaap, Y., Olivier, K. N., McElwee, J., Hughes, J., Pittaluga, S., Oliveira, J. B., Meffre, E., Fleisher, T. A., Holland, S. M., Lenardo, M. J., Tangye, S. G., & Uzel, G.
Venue
Science
Published
2014-09-26
Volume
345
Issue
6204
Pages
1623-1627
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2081255498
Cited by
848
References
7
FWCI
28.92
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. https://app.cochat.ai/papers/10.1126/science.1255904
The paper
Kuehn, H. S., Ouyang, W., Lo, B., Deenick, E. K., Niemela, J. E., Avery, D. T., Schickel, J.-N., Tran, D. Q., Stoddard, J., Zhang, Y., Frucht, D. M., Dumitriu, B., Scheinberg, P., Folio, L. R., Frein, C. A., Price, S., Koh, C., Heller, T., Seroogy, C. M., . . . Uzel, G. (2014). Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. https://doi.org/10.1126/science.1255904

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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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