Growth hormone (GH) promotes postnatal human growth primarily by regulating insulin-like growth factor (IGF)-I production through activation of the GH receptor (GHR)-JAK2-signal transducer and activator of transcription (STAT)-5B signaling pathway. Inactivating STAT5B mutations, both autosomal recessive (AR) and dominant-negative (DN), are causal of a spectrum of GH insensitivity (GHI) syndrome, IGF-I deficiency and postnatal growth failure. Only AR STAT5B defects, however, confer additional characteristics of immune dysfunction which can manifest as chronic, potentially fatal, pulmonary disease. Somatic activating STAT5B and JAK2 mutations are associated with a plethora of immune abnormalities but appear not to impact human linear growth. In this review, molecular defects associated with STAT5B deficiency is highlighted and insights towards understanding human growth and immunity is emphasized.

生长激素 (GH) 主要通过激活 GH 受体 (GHR)-JAK2 信号转导器和转录激活剂 (STAT)-5B 信号通路来调节胰岛素样生长因子 (IGF)-I 的产生，从而促进出生后人体生长。常染色体隐性 (AR) 和显性阴性 (DN)失活STAT5B突变是一系列 GH 不敏感 (GHI) 综合征、IGF-I 缺乏和出生后生长障碍的原因。然而，只有 AR STAT5B缺陷会赋予免疫功能障碍的额外特征，这些特征可能表现为慢性、可能致命的肺部疾病。体细胞激活STAT5B和JAK2突变与过多的免疫异常有关，但似乎不会影响人类的线性增长。在这篇综述中，强调了与 STAT5B 缺乏相关的分子缺陷，并强调了对理解人类生长和免疫的见解。