Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect
associated with multi-organ autoimmune disease and, in some cases, severe growth …

Background: Germline STAT3 gain-of-function (GOF) mutations cause multiple endocrine
and haematologic autoimmune disorders, lymphoproliferation, and growth impairment. As …

Growth hormone (GH) insensitivity syndrome (GHIS) is a rare clinical condition in which
production of insulin-like growth factor 1 is blunted and, consequently, postnatal growth …

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 …

Objective STAT5b is a component of the GH signaling pathway. Recently, we described a 31-
year-old male patient (height,− 5.9 SDS) with a novel homozygous inactivating mutation in …

Growth hormone (GH) regulates insulin-like growth factor (IGF)-I production primarily
through activation of the GH receptor (GHR)-signal transducer and activator of transcription …

Context: A natural missense mutation in the signal transducer and activator of transcription
(STAT) 5b gene was recently identified in association with a female patient presenting with …

STAT5B deficiency, a rare autosomal recessive disorder characterized by severe growth
hormone insensitivity (GHI) and immunodeficiency, can manifest as fatal pulmonary …

Background The most frequent monogenic causes of growth hormone insensitivity (GHI)
include defects in genes encoding the GH receptor itself (GHR), the signal transducer and …

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 …