Figure 3.

(A) The T385M mutation was found to be as a de novo mutation in the patient (DNA sequences and familial tree). The T385M mutation in the DNA-binding domain is shown in yellow in a signal transduction and activator of transcription 1 (STAT1)/DNA model; other gain-of-function mutations associated with fungal infections are shown in green (DNA-binding domain) and white (C–C-domain), and p-Tyrosine 701 is labeled with blue. (B) Inhibition of interferon-induced STAT1 phosphorilation in EBV-LCL by Ruxolitinib in a healthy control and in the patient, as demonstrated by intracellular flow cytometry (upper panel) and Western blot (lower panel).