Abstract
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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.
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Bezrodnik, L., Di Giovanni, D., Caldirola, M.S. et al. Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features. J Clin Immunol 35, 264–272 (2015). https://doi.org/10.1007/s10875-015-0145-5
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DOI: https://doi.org/10.1007/s10875-015-0145-5