摘要
目的 分析X连锁凋亡抑制因子(XIAP)缺陷的诊断和治疗.方法 回顾分析1例XIAP缺陷患儿的临床资料,并进行文献复习.结果 男性患儿,5岁5个月起病,以反复发热、皮疹伴淋巴结、肝、脾肿大及炎症性肠病为主要表现.13岁经基因检测确诊为XIAP缺陷.患儿3号外显子XIAP基因移码突变888_892del,导致氨基酸改变p.K299Lfs*8.检索文献,未发现相同基因位点报道.结论 XIAP缺陷属于免疫失调性原发性免疫缺陷病,临床缺乏特异性,及时进行基因检查有临床意义.
Objective To analyze the diagnosis and treatment of X-linked inhibitor of apoptosis(XIAP)deficiency.Methods The clinical data of XIAP deficiency in a child were retrospectively analyzed and related literature was reviewed.Results A boy had the onset of the disease at the age of 5 years and 5 months.His main manifestations were recurrent fever,rash with lymphadenomegaly and hepatosplenomegaly,and inflammatory bowel disease.The child was diagnosed with XIAP deficiency by genetic testing at age 13 years.Frameshift mutation of 888_892del was found in exon 3 of XIAP gene,leading to the amino acid change of p.k299lfs*8.No similar gene locus reports were found by searching the literature.Conclusions XIAP deficiency is an immunosuppressive primary immunodeficiency disease with no clinical specificity.Timely genetic examination is of clinical significance.
作者
刘婷
谢永武
曾萍
方建培
LIU Ting;XIE Yongwu;Zeng Ping;Fang Jianpei(Zhuhai Maternal and Children's Hospital Zhuhai 519000,Guangdong,China;Guangzhou Women and Children medical Center Guangzhou 510000,Guangdong,China;Sun Yat-sen Memorial Hospital Affiliated to Zhongshan University,Guangzhou 510000,Guangdong,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2020年第3期213-216,共4页
Journal of Clinical Pediatrics
关键词
XIAP缺陷综合征
噬血细胞综合征
炎症性肠病
基因突变
X-linked inhibitor of apoplosis deficiency syndrome
hemophagocytic syndrome
inflammatory bowel disease
genetic mutation