Departamento de Bioquímica/IBRAG, UERJ, Brazil; Instituto de Bioquímica Médica/CCS, UFRJ, Brazil.
Cytokine. 2013 Nov;64(2):486-9. doi: 10.1016/j.cyto.2013.08.004. Epub 2013 Sep 7.
Fanconi anemia (FA) is a rare disease, autosomal recessive and X linked, which is clinically prone to development of hematological abnormalities and neoplasms, especially acute myeloid leukemia. In this work IL-10 and TGF-β levels were measured on FA patients' plasma since they are the regulatory cytokines of TNF-α and INF-γ which had been described to be overexpressed in this genetic disease. Our results show increased IL-10 plasma levels in 25% of FA patients studied, but levels of TGF-β within the normal range. TNF-α and INF-γ were also measured and found to be increased in 24% and 23% of FA patients, respectively. However, no inverse correlation was observed between augmented levels of IL-10 and TNF or IFN-γ. Patients with elevated levels of TNF-α and INF-γ presented bone marrow hypocellularity. IL-10 levels did not appear to be determinant for bone marrow cellularity. These data suggest that IL-10 is also a feature of Fanconi anemia pathophysiology.
范可尼贫血症（FA）是一种罕见的疾病，呈常染色体隐性和 X 连锁遗传，临床上易发展为血液系统异常和肿瘤，尤其是急性髓系白血病。在这项工作中，我们测量了 FA 患者血浆中的 IL-10 和 TGF-β水平，因为它们是 TNF-α和 INF-γ的调节细胞因子，TNF-α和 INF-γ在这种遗传性疾病中被描述为过度表达。我们的研究结果显示，在所研究的 25%的 FA 患者中，IL-10 血浆水平升高，但 TGF-β水平在正常范围内。我们还测量了 TNF-α和 INF-γ，发现分别有 24%和 23%的 FA 患者的 TNF-α和 INF-γ水平升高。然而，在升高的 IL-10 水平与 TNF 或 IFN-γ之间没有观察到反向相关性。TNF-α和 INF-γ水平升高的患者骨髓细胞减少。IL-10 水平似乎不是骨髓细胞数量的决定因素。这些数据表明，IL-10 也是范可尼贫血症病理生理学的一个特征。
