X连锁淋巴组织增生综合征-2型1例报告并文献复习

X-LINKED LYMPHOPROLIFERATIVE SYNDROME TYPE 2:A CASE REPORT AND LITERATURE REVIEW

目的探讨X连锁淋巴组织增生综合征-2型(XLP-2)患者的临床特点、基因诊断和治疗方法。方法回顾性分析1例XLP-2患者的临床资料及基因检测结果,并对相关文献进行复习。结果患儿,男,3岁,高热起病,伴淋巴结、肝脾肿大,检查示患儿存在EB病毒(EBV)感染及NK细胞活性减低,XIAP基因c.1141C>T(p.R381X),确诊为XLP-2,糖皮质激素治疗后病情控制,家属拒绝行造血干细胞移植(HSCT)。结论XLP-2是一种罕见X连锁原发性免疫缺陷,常表现为EBV驱动的噬血细胞综合征(HLH),XIAP基因检测为确诊方法,HSCT为目前唯一治愈性方法。

Objective To explore the clinical features,genetic diagnosis,and treatment of X-linked lymphoproliferative syndrome type 2(XLP-2).Methods We retrospectively analyzed the clinical data and genetic findings of a patient with XLP-2,and reviewed the relevant literature.Results The patient,a 3-year-old male,originally presented with high fever and enlarged lymph nodes,liver,and spleen.Laboratory tests showed Epstein-Barr virus(EBV)infection and decreased NK cell activity.Gene detection revealed a mutation in the X-linked inhibitor of apoptosis(XIAP)gene c.1141C>T(p.R381X),confirming the diagnosis of XLP-2.Glucocorticoid treatment controlled his condition;hematopoietic stem cell transplantation(HSCT)was refused by his family.Conclusion XLP-2 is a rare X-linked primary immunodeficiency disorder,and often develops hemophagocytic syndrome in the context of EBV infection.Its diagnosis depends on XIAP gene detection,and HSCT is the only curative treatment at pre-sent.