Inborn errors of immunity and somatic variant phenocopies disrupting human JAK-STAT signaling

The Janus kinase-signal transducer and activator of transcription (JAK-STAT) signaling cascade is an evolutionarily conserved sign transduction pathway that regulates many very important mobile processes, together with immune perform and hematopoiesis. Human genetic variants that disrupt JAK-STAT signaling are being discovered to trigger a quickly growing variety of ailments, together with each germline-encoded inborn errors of immunity (IEI) and purchased somatic variants inflicting a ‘phenocopy’ of the IEI. A number of genetic mechanisms are liable for this rising group of JAK-STAT ailments together with loss-of-function (LOF), gain-of-function (GOF), and dominant destructive (DN) results.

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