Microbiology Section, Department of Experimental Medicine and Biochemical Sciences, University of Perugia,Via del Giochetto, Perugia, Italy.
Immunol Invest. 2011;40(7-8):723-34. doi: 10.3109/08820139.2011.586395.
Invasive fungal diseases remain nowadays life-threatening conditions affecting multiple clinical settings. The onset of these diseases is dependent on numerous factors, of which the "immunocompromised" phenotype of the patients is the more often acknowledged. However, and despite comparable immune dysfunction, not all patients are ultimately susceptible to disease, suggesting that additional risk factors, likely of genetic nature, may also be important. In the last years, genetic variants in several immune-related genes have also been proposed as major determinants of the susceptibility pattern of high-risk patients to invasive fungal diseases. Altogether, these findings highlighted the crucial significance of the individual genetic make-up in defining susceptibility to infection, providing a compelling rationale for the introduction of the immunogenetic profile as a risk prediction measure that may ultimately help to guide clinicians in the use of prophylaxis and preemptive fungal therapy in high-risk patients.
目前，侵袭性真菌病仍是危及生命的疾病，影响多个临床科室。这些疾病的发生取决于许多因素，其中患者的“免疫功能低下”表型更为常见。然而，尽管免疫功能存在相似的障碍，但并非所有患者最终都容易患病，这表明可能还有其他同样重要的遗传性质的危险因素。近年来，一些免疫相关基因的遗传变异也被提出是高危患者易患侵袭性真菌病的主要决定因素。总的来说，这些发现强调了个体遗传构成在确定感染易感性方面的关键意义，为引入免疫遗传学特征作为风险预测措施提供了强有力的依据，这可能最终有助于指导临床医生在高危患者中使用预防和抢先性真菌治疗。
