1例白细胞黏附分子缺陷病Ⅰ型的临床及分子特征分析  

Clinical and molecular features of one case of leukocyte adhesion deficiency type-1

作　　者：汪涛[1] 蒋利萍[1] 高红[1] 赵晓东[2] 

机构地区：[1]重庆医科大学附属儿童医院儿科研究所临床免疫研究室,400014 [2]重庆医科大学附属儿童医院儿童感染免疫重庆市重点实验室儿童发育疾病研究教育部重点实验室儿科学重庆市重点实验室重庆市儿童发育重大疾病诊治与预防国际科技合作基地,400014

出　　处：《免疫学杂志》2017年第8期697-702,共6页Immunological Journal

基　　金：重庆市科委社会事业与民生保障科技创新专项(cstc2015shmszx120028);2014年国家公益性行业科研专项(201402012)

摘　　要：目的探讨1例白细胞黏附分子缺陷病Ⅰ型(LAD-1)患儿的临床特征和CD18蛋白表达异常及基因突变特征。方法总结患儿临床资料,常规免疫学筛查,流式细胞术检测白细胞表面CD18分子,PCR测序分析患儿及其父母ITGB2基因。结果男性患儿,5岁2月,2个月大时以脐炎起病,之后反复肺炎、中耳炎、鹅口疮、牙龈炎伴乳牙早脱。3+岁起反复皮疹、皮肤感染,伤口愈合延迟。患儿白细胞总数显著增高,以中性粒细胞为主,免疫球蛋白升高。淋巴细胞、中性粒细胞、单核细胞表面CD18分子表达患儿分别为10.14%、0.67%、2.54%,为中度缺陷,而父母表达正常(父分别为96.01%、99.05%、96.58%;母分别为91.12%、92.98%、81.43%)。ITGB2基因分析显示第13号外显子出现1个纯合错义突变c.1768T>C(p.C590R),其父母均为相同位点杂合突变。结论反复严重皮肤黏膜及软组织感染,尤其伴有脐炎、伤口愈合延迟、反复牙龈炎伴乳牙早脱、白细胞总数显著增高、以中性粒细胞为主、伴免疫球蛋白升高的患儿需警惕LAD-1。流式细胞术检测白细胞表面CD18分子可快速诊断LAD-1,ITGB2基因分析是诊断的金标准。Leukocyte adhesion deficiency type-1（LAD-1） is one of the rare autosomal recessive primaryimmunodeficiency diseases. This study enrolled a male patient diagnosed as LAD-1 at 5 years old and aimed toexplore the clinical and molecular features of LAD-1. Omphalitis was the initial symptom happened when he was 2 months old. And then he suffered from severe and recurrent infections（pneumonia, otitis media, thrush, gingivitis）,and recurrent gingivitis led to the loss of deciduous teeth earlier than healthy children. Chronic skin infection anddelayed wounds healing started when he was 3 years old; markedly increased leukocyte counts with a predominanceof neutrophils and high level of immunoglobulins were observed in this patient; CD18 on the surfaces of leukocyteswere moderate deficiency in this patient whereas were normal in his parents; one homozygous mutation c.1768T〉C（p.C590R） in ITGB2 gene was identified and his parents were confirmed as carriers. Thus it is important for physiciansto realize that patients suffering recurrent skin, mucosa and soft tissue infections, markedly elevated leukocyte countsand high level of immunoglobulins should be suspiciousof LAD-1. CD18 expression measured by flow analysisis a rapid clinical diagnosis method and ITGB2 geneanalysis is the golden standard for LAD-1 diagnosis.

关 键 词：白细胞黏附分子缺陷病Ⅰ型 临床特征 CD18 ITGB2 基因突变 

分 类 号：R725.9[医药卫生—儿科]