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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 3/2015

01-04-2015 | Original Research

Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features

Authors: Liliana Bezrodnik, Daniela Di Giovanni, María Soledad Caldirola, María Esnaola Azcoiti, Troy Torgerson, María Isabel Gaillard

Published in: Journal of Clinical Immunology | Issue 3/2015

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Abstract

ᅟ

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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Metadata
Title
Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features
Authors
Liliana Bezrodnik
Daniela Di Giovanni
María Soledad Caldirola
María Esnaola Azcoiti
Troy Torgerson
María Isabel Gaillard
Publication date
01-04-2015
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2015
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-015-0145-5

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