Human diseases caused by impaired signal transducer and activator of transcription and Janus kinase signaling

PURPOSE OF REVIEW: The Janus kinase (JAK) and signal transducer of activation (STAT) pathway plays a key role in the immune system. It is employed by diverse cytokines, interferons, growth factors and related molecules. Mutations in JAK/STAT pathway have been implicated in human disease. Here we review JAK/STAT biology and diseases associated with mutations in this pathway. RECENT FINDINGS: Over the past 10 years, many mutations in JAK/STAT pathway has been discovered. These disorders have provided insights to human immunology. SUMMARY: In this review, we summarize the biology of each STAT and JAK as well as discuss the human disease that results from somatic or germline mutations to include typical presentation, immunological parameters and treatment.