Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
The NRF2 transcription factor regulates the response to stress in mammalian cells. Here, the authors show that activating mutations in NRF2, commonly found in cancer cells, are found in four patients with a multisystem disorder characterized by immunodeficiency and neurological symptoms.
Main Authors: | , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2017-10-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/s41467-017-00932-7 |