非血缘脐带血移植治疗白细胞黏附分子缺陷1型1例随访4年报告  

Cord blood transplantation in leukocyte adhesion deficiency type-1:a case report with 4 years follow-up

作　　者：陈姣 刘周阳 樊世芬 姜帆 姜志鑫 孙媛 CHEN Jiao;LIU Zhouyang;FAN Shifen;JIANG Fan;JIANG Zhixin;SUN Yuan(Beijing Jingdu Children’s Hospital,Beijing 102208,China)

机构地区：[1]北京京都儿童医院,北京102208

出　　处：《临床儿科杂志》2022年第7期545-549,共5页Journal of Clinical Pediatrics

摘　　要：白细胞黏附分子缺陷1型(LAD-1)是由于ITGB2基因变异引起白细胞黏附过程中不同步骤受损导致的一种原发免疫缺陷病,主要表现为反复感染、脐带脱落延迟、伤口愈合延迟及白细胞显著增高。异基因造血干细胞移植是LAD-1的治愈手段。患儿男,生后1个月以反复高热起病,伴肺炎及肠炎,白细胞总数显著增高,以中性粒细胞增高为主,ITGB2基因纯合变异,诊断为LAD-1。生后6.5个月成功行脐带血移植后感染好转,白细胞恢复正常。脐带血移植治疗LAD-1安全有效。Leukocyte adhesion deficiency type-1(LAD-1)is a primary immunodeficiency disease.It is caused by mutations in the ITGB2 gene that cause damage to leukocyte adhesion.It is characterized by recurrent infections,delayed detachment of the umbilical cord,impaired wound healing and leukocytosis.It can be cured by allogeneic hematopoietic stem cell transplantation.The patient was a boy.He started to have recurrent fever,pneumonia and enteritis at 1 month old.He was diagnosed as LAD-1 based on markedly elevated leukocyte counts and ITGB2 gene homozygous mutation.He was cured after undergoing cord blood transplantation at 6.5 months old.Umbilical cord blood stem cell transplantation is a safe and effective method to cure LAD-1.

关 键 词：白细胞黏附分子缺陷 造血干细胞移植 脐带血 儿童 

分 类 号：R593.31[医药卫生—内科学]