Figure 2: Impaired STAT phosphorylation and cytokine responses in the patient’s blood cells.
From: Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
(a) Left panel. Numbers of cells positive for the presence of phosphorylated STAT proteins were measured by FACS after 10 min stimulation of whole blood of the patient (age 20 years) (open circles) and compared with a healthy travel control tested under the same conditions (black dots). The assay was repeated either three times or six times (thrice on two occasions, in which case two different travel controls were studied). Blue lines show geometric means. Unpaired two-tailed Student t-test with Welch’s correction. Right panel. FACS gating for pSTAT1 after IFN-α and IFN-γ stimulation is shown. (b–f) Cytokine responses measured after stimulation in whole blood of the patient in independent assays (open circles) and compared with healthy controls tested under the same conditions (black dots). Numbers of controls in different assays were: (b) LPS only n=65, LPS+IL-12 n=40, LPS+IFN-α n=20, PHA only n=60, PHA+IL-12 n=45, PHA+IFN-α n=20; (c) PHA only n=50, PHA+IFN-α n=20; (d–f) n=30. Blue lines show geometric means. Two-tailed Mann–Whitney test.
