Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1.

@article{Dornan2017ConformationalDO,
  title={Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1.},
  author={Gillian L. Dornan and Braden D. Siempelkamp and Meredith L. Jenkins and Oscar Vadas and Carrie L. Lucas and John E. Burke},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2017},
  volume={114 8},
  pages={
          1982-1987
        }
}
Activated PI3K Delta Syndrome (APDS) is a primary immunodeficiency disease caused by activating mutations in either the leukocyte-restricted p110δ catalytic (PIK3CD) subunit or the ubiquitously expressed p85α regulatory (PIK3R1) subunit of class IA phosphoinositide 3-kinases (PI3Ks). There are two classes of APDS: APDS1 that arises from p110δ mutations that are analogous to oncogenic mutations found in the broadly expressed p110α subunit and APDS2 that occurs from a splice mutation resulting in… CONTINUE READING

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