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

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

Capsule summary 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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Veröffentlicht in:Journal of allergy and clinical immunology 2017-04, Vol.140 (4), p.1152-1156.e10
Hauptverfasser: Takeda, Andrew J., BSc, Zhang, Yu, PhD, Dornan, Gillian L., BSc, Siempelkamp, Braden D., BSc, Jenkins, Meredith L., BSc, Matthews, Helen F., BSN, McElwee, Joshua J., PhD, Bi, Weimin, PhD, Seeborg, Filiz O., MD, Su, Helen C., MD, PhD, Burke, John E., PhD, Lucas, Carrie L., PhD
Format: Artikel
Sprache:eng
Schlagworte:
Allergy and Immunology
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Zusammenfassung:Capsule summary 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.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2017.03.026