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01.04.2015 | Original Research

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

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

Erschienen in: Journal of Clinical Immunology | Ausgabe 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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Titel: Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features
verfasst von: Liliana Bezrodnik
Daniela Di Giovanni
María Soledad Caldirola
María Esnaola Azcoiti
Troy Torgerson
María Isabel Gaillard
Publikationsdatum: 01.04.2015
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 3/2015
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-015-0145-5

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

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Conclusion

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