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. 2019 Apr 12;10:753. doi: 10.3389/fimmu.2019.00753

Figure 1.

Figure 1

A novel Y524S variant in p110δ causes APDS. (A) Pedigree showing a de novo variant in p110δ. (B) Molecular model showing the location of the Y524S variant in relation to p85α. Note the loss of the hydrogen bond and buried surface area when Tyr 524 is mutated to Ser. (C) Levels of phospho-Akt (Ser473) and β-Actin in CD4 cells purified from control or patient PBMCs were assayed by Western blotting. Cells were unstimulated (−) or stimulated with anti-CD3 and anti-CD28 for 5 min (+). Results are representative of three experiments. (D) Flow cytometry of control or patient CD4+ PHA blasts. Cells were assayed for phospho-Akt (Ser473) and phospho-S6 (Ser240/244) with or without stimulation for 10 min with anti-CD3 and anti-CD28. Results are representative of two experiments. (E) Western blotting for phosphotyrosine in freshly purified control or patient CD4+ T cells, either unstimulated or stimulated for the indicated times with anti-CD3.