%0 Journal Article
%T X连锁淋巴组织增生综合征-2型1例报告并文献复习
%A 郝俊楠　王志　姜健　泥永安　谢冬　孙立荣
%J -
%D 2020
%R 10.13362/j.jpmed.202001010
%X 摘要 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。<br>Abstract：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 present
%K 淋巴组织增殖性疾病
%K X连锁凋亡抑制蛋白质
%K 疱疹病毒4型
%K 人
%K 杀伤细胞
%K 天然
%K 诊断
%K 治疗学<br>Lymphoproliferative disorders
%K X-linked inhibitor of apoptosis protein
%K Herpesvirus 4
%K human
%K Killer cells
%K natural
%K Diagnosis
%K Therapeutics
%U http://jpmed.qdu.edu.cn/CN/10.13362/j.jpmed.202001010