Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

Cytotoxic T lymphocyte antigen–4 (CTLA-4) is an inhibitory receptor found on immune cells. The consequences of mutations in CTLA4 in humans are unknown. We identified germline heterozygous mutations in CTLA4 in subjects with severe immune dysregulation from four unrelated families. Whereas Ctla4 het...

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發表在:Science
Main Authors: 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
格式: Artigo
語言:Inglês
出版: 2014
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4371526/
https://ncbi.nlm.nih.gov/pubmed/25213377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1255904
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