Bezrodnik Liliana, Di Giovanni Daniela, Caldirola María Soledad, Azcoiti María Esnaola, Torgerson Troy, Gaillard María Isabel
"Dr. Ricardo Gutiérrez" Children's Hospital, Gallo 1330, Capital Federal, Argentina.
J Clin Immunol. 2015 Apr;35(3):264-72. doi: 10.1007/s10875-015-0145-5. Epub 2015 Mar 11.
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.
信号转导子和转录激活子（STAT）家族蛋白可响应多种细胞因子调节基因转录。特别是STAT5B，在T细胞中发挥重要作用，是白细胞介素-2（IL-2）诱导反应的关键介质。STAT5B缺乏症会导致一种罕见的常染色体隐性疾病，仅在少数个体中报道过。目前已发表了10例STAT5B缺乏症病例，其中4例是阿根廷人。
本文报告了3例阿根廷STAT5B缺乏症患者10多年的临床和免疫学特征随访情况。
十多年的随访表明，STAT5B缺乏症与导致严重发病的各种临床病理相关。早期诊断对于预防和改善STAT5B缺乏症患者的临床结局至关重要。
