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

Journal of Clinical Immunology
Liliana BezrodnikMaría Isabel Gaillard

Abstract

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. This is a report of more than 10 years follow up of the clinical and immunological features of three Argentinian STAT5B deficient patients. 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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Mar 1, 2016·Current Allergy and Asthma Reports·Fayhan J Alroqi, Talal A Chatila
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