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


OBJECTIVE
This is a report of more than 10 years follow up of the clinical and immunological features of three Argentinian STAT5B deficient patients.


CONCLUSIONS
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.
"Dr. Ricardo Gutiérrez" Children's Hospital, Gallo 1330, Capital Federal, Argentina.
Liliana
L
Bezrodnik
Daniela
D
Di Giovanni
María Soledad
MS
Caldirola
María Esnaola
ME
Azcoiti
Troy
T
Torgerson
María Isabel
MI
Gaillard
D000328:Adult; D001118:Argentina; D001323:Autoantibodies / Q000097:blood; D001402:B-Lymphocytes / Q000276:immunology; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000097:blood / Q000235:genetics / Q000276:immunology*; D018655:Lymphocyte Count; D009154:Mutation; D050799:STAT5 Transcription Factor / Q000172:deficiency* / Q000235:genetics; D013601:T-Lymphocytes / Q000276:immunology; D055815:Young Adult
D001323:Autoantibodies; D007136:Immunoglobulins; D050799:STAT5 Transcription Factor; C494095:STAT5B protein, human