X-连锁淋巴增殖性疾病分子机制和诊治进展

Research progress on molecular mechanism, diagnosis and treatment of X-linked lymphoproliferative disease

X-连锁淋巴组织细胞异常增生症（XLP）是一种少见、致死性强的原发性免疫缺陷病。XLP在男性人群中的发病率约为（2-3）/106。XLP可以被分为2型：SH2D1A基因突变所致的XLP-1型和XIAP基因突变所致的XLP-2型。XLP临床表现多样，常由EB病毒（EBV）感染所诱发。由于XLP-1型和XLP-2型发病机制不同，临床表现亦有所差异，但总体预后均较差。异基因造血干细胞移植（allo-HSCT）是XLP目前唯一治愈手段，移植前噬血细胞综合征（HLH）的缓解状态是决定预后的关键因素。笔者拟就XLP的分子机制、临床表现及诊疗等的研究进展进行综述。

X-linked lymphoproliferative disease （XLP） is a rare X-linked familial hereditary diseases with high mortality, and the male incidence rate of these diseases is currently about （2-3）/106. It can be categorized into XLP-1 and XLP-2 subtypes. XLP-1 is caused by mutations in SH2D1A, and XLP-2 is caused by mutations in XIAP. The clinical manifestations of XLP are diverse and often triggered by Epstein-Barr virus （EBV） infection. The clinical manifestations of both subtypes are different based on the different pathogenesis. The overall prognosis of XLP is extremely poor and allogeneic hematopoietic stem cell transplantation （allo-HSCT） is the only way to cure XLP at present. The complete remission of hemophagocytic lymphohistocytosis（HLH） before transplantation is the key prognostic factor of XLP. This article is reviewed the research progress on molecular mechanism, diagnosis and treatment of XLP.