噬血细胞综合征与基因多态性关系的研究进展

Advances in the association between hemophagocytic syndrome and gene polymorphism

噬血细胞综合征是发生在免疫缺陷基础之上的致命性临床综合征,其病因及发病机制尚未完全明确,近年来的研究显示基因多态性可能参与了噬血细胞综合征的发病过程。通过研究基因多态性与噬血细胞综合征的关系,可以在基因层面对该病的个体易感性、临床表现异质性等方面有更全面的认识,为临床个体化治疗提供依据。该文主要就穿孔素及颗粒酶B基因、UNC13D(MUNC13-4)基因、X染色体连锁凋亡抑制蛋白、细胞毒性T淋巴细胞相关抗原4基因、干扰素调节因子5基因及细胞因子基因的基因多态性与噬血细胞综合征关系的研究进展作一介绍。

Hemophagocytic syndrome is a fatal clinical syndrome resulting from immunodeficiency.The etiology and pathogenesis are still elusive. Recent investigations have demonstrated that gene polymorphism is probably involved with the incidence of hemophagocytic syndrome. Analyzing the association the relationship between hemophagocytic syndrome and gene polymorphism contributes to comprehensive understanding of individual susceptibility and clinical heterogeneity at the genetic level,providing evidence for individualized therapy of hemophagocytic syndrome. In this article,research progresses on the association between hemophagocytic syndrome and the polymorphism of multiple genes including perforin,granzyme B,UNC13D（ MUNC13-4）gene,X-linked inhibitor of apoptosis protein,cytotoxic T lymphocyte-associated antigen 4,interferon regulatory factor 5 and cytokines were briefly introduced.