mTOR-dependent signaling is preserved in human T cells with monoallelic germline <i>TSC1</i> mutations.

<p>A–D) Human CD3⁺ lines derived from healthy donors (HD) and TSC1 subjects (Pt1-4) (see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0091952#s4" target="_blank">methods</a>) were left untreated (-) or stimulated with anti-CD3 and CD28 mAb for 30 min (+). Where indicated cells were pretreated for 30 min with Rapamycin and then stimulated with anti-CD3/CD28 mAb (+R). Cell extracts were analyzed with the indicated antibody. Arrows indicate the specific bands. E-F) Cell size was determined in fresh PBMC isolated from 8 HD and 4 TSC1 Pts by FACS and is depicted after gating on CD4⁺ or CD8⁺ cells. In E a representative overlay is depicted, while data in F represent the average cell size ± SEM.