Fermo E, Bianchi P, Barcellini W, Pedotti P, Boschetti C, Alfinito F, Cortelezzi A, Zanella A
Division of Haematology, IRCCS Ospedale Maggiore of Milan, Milan, Italy.
Eur J Immunogenet. 2004 Dec;31(6):267-9. doi: 10.1111/j.1365-2370.2004.00480.x.
We investigated regulatory variants of five cytokine genes [tumour necrosis factor (TNF)-alpha, interferon (IFN)-gamma, transforming growth factor (TGF)-beta, interleukin (IL)-6 and IL-10] in 40 Italian patients affected by paroxysmal nocturnal haemoglobinuria (PNH) and aplastic anaemia (AA). Genotypes associated with high production of TGF-beta and IFN-gamma were more frequent in patients than in controls. Genetic regulation of the immunological pathways involved in the pathogenesis of bone marrow failure is suggested.
我们研究了40名患有阵发性夜间血红蛋白尿（PNH）和再生障碍性贫血（AA）的意大利患者中五个细胞因子基因[肿瘤坏死因子（TNF）-α、干扰素（IFN）-γ、转化生长因子（TGF）-β、白细胞介素（IL）-6和IL-10]的调控变异。与TGF-β和IFN-γ高产生相关的基因型在患者中比在对照组中更常见。提示骨髓衰竭发病机制中涉及的免疫途径存在基因调控。
