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 |
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| container_end_page | 1156.e10 |
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| container_issue | 4 |
| container_start_page | 1152 |
| container_title | Journal of allergy and clinical immunology |
| container_volume | 140 |
| creator | 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 |
| description | 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. |
| doi_str_mv | 10.1016/j.jaci.2017.03.026 |
| format | Article |
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| source | Access via ScienceDirect (Elsevier); EZB-FREE-00999 freely available EZB journals |
| subjects | Allergy and Immunology |
| title | Novel PIK3CD mutations affecting N-terminal residues of p110δ cause APDS1 in humans |
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