STK4 Deficiency Impairs Innate Immunity and Interferon Production Through Negative Regulation of TBK1-IRF3 Signaling.
Sofie E JørgensenAli Al-MousawiKristian AssingUlla HartlingDorthe GrosenNiels FiskerChristian NielsenMarianne A JakobsenTrine Hyrup MogensenPublished in: Journal of clinical immunology (2020)
Here, we demonstrate disturbances in various immune cell populations and pathways involved in innate immune responses, cell death, autophagy, and adaptive immunity in a patient homozygous for a novel STK4 frameshift mutation.