Novel PIK3CD mutations affecting N-terminal residues of p110δ cause APDS1 in humans

Publication date: Available online 13 April 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Andrew J. Takeda, Yu Zhang, Gillian L. Dornan, Braden D. Siempelkamp, Meredith L. Jenkins, Helen F. Matthews, Joshua J. McElwee, Weimin Bi, Filiz O. Seeborg, Helen C. Su, John E. Burke, Carrie L. Lucas
APDS is a newly described and prevalent primary immunodeficiency disease, and we now expand the list of mutation sites to include E81K and G124D of p110δ and uncover an intramolecular mechanism of activation that is inhibited by clinically relevant targeting of p110δ.



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