Long-term follow-up of STAT5B deficiency in three argentinian patients: clinical and immunological features.

ABSTRACT

UNLABELLED The signal transducer and activator of transcription (STAT) family of proteins regulate gene transcription in response to a variety of cytokines. STAT5B, in particular, plays an important role in T cells, where it is a key mediator of interleukin-2 (IL-2) induced responses. STAT5B deficiency causes a rare autosomal recessive disorder reported in only a handful of individuals. There are currently ten published cases of STAT5B deficiency, four of which are Argentinians. AIM: This is a report of more than 10 years follow up of the clinical and immunological features of three Argentinian STAT5B deficient patients. CONCLUSION: More than a decade of follow-up demonstrates that STAT5B deficiency is associated with various clinical pathologies that cause significant morbidity. Early diagnosis is critical for the prevention and improvement of clinical outcomes for STAT5B deficient patients.