Fig. 6: Patient-associated mutation in FCHO1 gene alters development and activation of T lymphocytes.

a Density plots of blood leucocytes (CD45⁺) of the index case (upper row) homozygous for a mutation in the FCHO1 locus and her siblings carrying the heterozygous mutation (middle and bottom rows). T helper cells were defined as CD45^hiCD33⁻SSC^loCD3⁺CD4⁺ and cytotoxic T cells were CD45^hiCD33⁻SSC^loCD3⁺CD8⁺. Numbers adjacent to the gates indicate percentages. b Histograms of CFSE-labelled T lymphocytes stimulated with anti-CD3 and anti-CD28 Ab for 3 (red line) or 5 (blue line) days. Unstimulated controls are depicted in grey. c Cytokine production by lymphocytes of patient and family members after anti-CD3 and anti-CD28 stimulation for the indicated periods of time. IL-2, IFN-γ, TNF-α and IL-4 were determined using cytometric bead assays. a–c Data are representative of two independent experiments, except data of day 3 shown in c, which was assessed once. Source data are provided as a Source Data file.