STAT5b deficiency: Lessons from STAT5b gene mutations

Vivian Hwa, Kari Nadeau, Jan M. Wit, Ron G. Rosenfeld

Research output: Contribution to journalReview articlepeer-review

83 Scopus citations


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 (STAT)-5b signaling cascade. One of four STAT proteins (STAT1, -3, -5a and -5b) activated by the GH-GHR system, the critical importance of STAT5b in IGF-I production became evident with the identification of homozygous, autosomal recessive STAT5b mutations in patients who presented with severe postnatal growth failure, growth hormone insensitivity syndrome (GHIS) and marked IGF-I deficiency. Unlike GHIS due to GHR mutations, patients carrying STAT5b mutations also presented with chronic pulmonary disease and evidence of perturbations of T-cell homeostasis. At present, no single treatment(s) is available to improve both poor statural growth and immune deficiency. Continued clinical evaluations of patients with STAT5b mutations and elucidating the impact of the mutation on STAT5b structure and function, are important to understanding the pathophysiology of this rare, complex, disease (MIM 245590).

Original languageEnglish (US)
Pages (from-to)61-75
Number of pages15
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
Issue number1
StatePublished - Feb 2011


  • STAT5b gene mutations
  • T regulatory cell deficiency
  • growth hormone insensitivity
  • insulin-like growth factor deficiency
  • signal transducers and activators of transcription 5b

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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