Dominant-Activating, Germline Mutations in Phosphoinositide 3-Kinase p110δ Cause T Cell Senescence and Human Immunodeficiency

The p110δ subunit of phosphoinositide 3-kinase (PI(3)K) is selectively expressed in leukocytes and is critical for lymphocyte biology. Here we report three different germline, heterozygous, gain-of-function mutations in the PIK3CD gene encoding p110δ in fourteen patients from seven families. These p...

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Hauptverfasser: Lucas, Carrie L., Kuehn, Hye Sun, Zhao, Fang, Niemela, Julie E., Deenick, Elissa K., Palendira, Umaimainthan, Avery, Danielle T., Moens, Leen, Cannons, Jennifer L., Biancalana, Matthew, Stoddard, Jennifer, Ouyang, Weiming, Frucht, David L., Rao, V. Koneti, Atkinson, T. Prescott, Agharahimi, Anahita, Hussey, Ashleigh A., Folio, Les R., Olivier, Kenneth N., Fleisher, Thomas A., Pittaluga, Stefania, Holland, Steven M., Cohen, Jeffrey I., Oliviera, Joao B., Tangye, Stuart G., Schwartzberg, Pamela L., Lenardo, Michael J., Uzel, Gulbu
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4209962/
https://ncbi.nlm.nih.gov/pubmed/24165795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ni.2771
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