Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans

Takeda, A. J., Zhang, Y., Dornan, G. L., Siempelkamp, B. D., Jenkins, M. L., Matthews, H. F., … Lucas, C. L. (2017). Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans. Journal of Allergy and Clinical Immunology, 140(4), 1152-1156.e10. https://doi.org/10.1016/j.jaci.2017.03.026