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

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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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Authors and Affiliations

  1. “Dr. Ricardo Gutiérrez” Children’s Hospital, Gallo 1330, Capital Federal, Argentina

    Liliana Bezrodnik, Daniela Di Giovanni, María Soledad Caldirola, María Esnaola Azcoiti & María Isabel Gaillard

  2. Seattle Children’s Research Institute, 1900 9th Ave, Seattle, USA

    Troy Torgerson

  3. Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA

    Troy Torgerson

  4. Immunology Diagnostic Laboratory within the Center for Immunity and Immunotherapies at Seattle Childrens Research Institute, 1900 9th Ave, Seattle, USA

    Troy Torgerson

Authors
  1. Liliana Bezrodnik
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  2. Daniela Di Giovanni
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  3. María Soledad Caldirola
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  4. María Esnaola Azcoiti
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  5. Troy Torgerson
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  6. María Isabel Gaillard
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Correspondence to María Esnaola Azcoiti.

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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

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