The signal transducer and activator of transcription (STAT) 3 is the most ubiquitous member of the STAT family and fulfills fundamental functions in immune and non-immune cells. Mutations in the STAT3 gene lead to different human diseases. Germline STAT3 activating or gain-of-function (GOF) mutations result in early-onset multiorgan autoimmunity, lymphoproliferation, recurrent infections and short stature. Since the first description of the disease, the clinical manifestations of STAT3 GOF mutations have expanded considerably. However, due to the complexity of immunological characteristics in patients carrying STAT3 GOF mutations, most of attention was focused on the immune alterations. This review summarizes current knowledge on STAT3 GOF mutations with special focus on the growth defects, since short stature is a predominant feature in this condition. Underlying mechanisms of STAT3 GOF disease are still poorly understood, and potential effects of STAT3 GOF mutations on the growth hormone signaling pathway are unclear. Functional studies of STAT3 GOF mutations and the broadening of clinical growth-related data in these patients are necessary to better delineate implications of STAT3 GOF mutations on growth.

信号转导子和转录激活子（STAT）3是STAT家族中最普遍的成员，在免疫和非免疫细胞中具有基本功能。STAT3中的突变基因导致不同的人类疾病。胚系STAT3激活或功能获得（GOF）突变会导致早发多器官自身免疫，淋巴增生，反复感染和身材矮小。自从首次描述该疾病以来，STAT3 GOF突变的临床表现已大大扩展。但是，由于携带STAT3 GOF突变的患者的免疫学特征非常复杂，因此大多数注意力都集中在免疫改变上。这篇综述总结了有关STAT3 GOF突变的当前知识，特别关注了生长缺陷，因为身材矮小是这种情况下的主要特征。STAT3 GOF疾病的潜在机制仍知之甚少，并且尚不清楚STAT3 GOF突变对生长激素信号通路的潜在影响。