Bouthemy C, Nel I, Oudot Mellakh T, Theodorou I
Inserm UMRS 945, UF d'histocompatibilité et immunogénétique, département d'immunologie, groupe hospitalier Pitié-Salpêtrière, 91, boulevard de l'Hôpital, 75013 Paris, France.
Pathol Biol (Paris). 2013 Jan;61(1):17-20. doi: 10.1016/j.patbio.2013.01.003. Epub 2013 Feb 8.
In the 1990 s, the variability of responses to human immunodeficiency virus (HIV) could only be tracked by phenotypic criteria such as the number of CD4T lymphocytes, the occurrence of opportunistic infection, the disease free survival without treatment. In 1996, the viral load is the leading phenotype for genetic studies. Ever since, thanks to a better understanding of the HIV infection pathophysiology, numerous studies helped to highlight the influence of genetic variability on inter-individual response to this virus. Among the genes having an impact, we can quote the following examples: CCR5, HLA-B and HLA-C genes. Practical applications of genetics in clinical medicine include search for HLA-B*57:01 before abacavir introduction. Recently, an eradicating treatment for HIV disease after bone marrow transplantation with a donor homozygote for a CCR5 gene non-functional variant (CCR5Δ32) has been reported. Interest in genetics of chronic viral infection is not specific to HIV. It has also been used on other viral diseases and it has gained a major place on the management of diseases.
在20世纪90年代,对人类免疫缺陷病毒(HIV)反应的变异性只能通过诸如CD4T淋巴细胞数量、机会性感染的发生、未经治疗的无病生存期等表型标准来追踪。1996年,病毒载量成为基因研究的主要表型。从那时起,由于对HIV感染病理生理学有了更好的理解,众多研究有助于突出基因变异性对个体对这种病毒反应的影响。在有影响的基因中,我们可以列举以下例子:CCR5、HLA - B和HLA - C基因。遗传学在临床医学中的实际应用包括在引入阿巴卡韦之前检测HLA - B*57:01。最近,有报道称,一名供体为CCR5基因无功能变体(CCR5Δ32)纯合子的患者在接受骨髓移植后实现了HIV疾病的根除治疗。对慢性病毒感染遗传学的关注并非HIV所特有。它也已应用于其他病毒性疾病,并且在疾病管理中占据了重要地位。