The IL-6 family of cytokines mediates functions in host protective immunity, development of multiple organs, tissue regeneration and metabolism. Inborn errors in cytokines or cytokine receptor units highlight specific roles for IL-6, IL-11, LIF, OSM, and CLC signaling whereas incomplete loss-of-function variants in the common receptor chain GP130 encoded by IL6ST or the transcription factor STAT3, as well as genes that affect either GP130 glycosylation (PGM3) or STAT3 transcriptional control (ZNF341) lead to complex phenotypes including features of hyper-IgE syndrome. Gain-of-function variants in the GP130-STAT3 signaling pathway cause immune dysregulation disorders. Insights into IL-6 family cytokine signaling inform on therapeutic application in immune-mediated disorders and potential side effects such as infection susceptibility.

IL-6 细胞因子家族介导宿主保护性免疫、多个器官发育、组织再生和代谢的功能。细胞因子或细胞因子受体单元的先天性错误突出了 IL-6、IL-11、LIF、OSM 和 CLC 信号转导的特定作用，而由IL6ST或转录因子 STAT3 编码的共同受体链 GP130 中的不完全功能丧失变异，以及影响 GP130 糖基化 ( PGM3 ) 或 STAT3 转录控制 ( ZNF341 ) 的基因会导致复杂的表型，包括高 IgE 综合征的特征。 GP130-STAT3 信号通路中的功能获得性变异会导致免疫失调疾病。对 IL-6 家族细胞因子信号传导的深入了解可为免疫介导疾病的治疗应用和感染易感性等潜在副作用提供信息。