The Janus kinase (JAK) and signal transducer and activator of transcription (STAT) signaling pathways are essential for maintaining prompt immune responses to various cytokines. Both loss- and gain-of-function mutations in the JAK and STAT molecules result in different disease profiles in inborn errors of immunity. The discovery of gain-of-function mutations in STAT1 and STAT3 expanded immunological investigations aimed at understanding both signaling pathways and their associated disorders. Both defects are distinct from loss-of-function mutations that lead to alterations in immune regulation. In this context, we wanted to take a look at both diseases and focus on the mechanisms.

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