Figure 5 Defects in the JAK–STAT signalling pathway

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Figure 5 Defects in the JAK–STAT signalling pathway Figure 5 | Defects in the JAK–STAT signalling pathway. The binding of various cytokines to their respective receptors stimulates the phosphorylation of the intracellular domains of these receptors by various members of the Janus kinase (JAK) family. Subsequently, members of the signal transducer and activator of transcription (STAT) family are phosphorylated, form dimers and translocate to the nucleus, where they bind to specific enhancer elements and cause transcription of specific genes. GOF, gain-of-function; IFN, interferon; IFNR, interferon receptor; IL-6R, IL-6 receptor; LOF, loss-of-function. Schmidt, R. E. et al. (2017) Autoimmunity and primary immunodeficiency: two sides of the same coin? Nat. Rev. Rheumatol. doi:10.1038/nrrheum.2017.198