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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。
Objective To investigate the clinical features, CD18 protein expression and gene mutation in a patient with leucocyte adhesion molecule deficiency type Ⅰ (LAD-1). Methods The clinical data of children, routine immunological screening and flow cytometry were used to detect the CD18 molecules on the surface of leucocytes. The ITGB2 gene in children and their parents was analyzed by PCR. Results Male children, 5 years old in February, 2 months old with onset of omphalitis, followed by repeated pneumonia, otitis media, thrush, gingivitis with deciduous early off. Repeated 3+ years old rash, skin infections, delayed wound healing. The total number of children with leukocytes increased significantly to neutrophils, immunoglobulin increased. The expression of CD18 on lymphocytes, neutrophils and monocytes was 10.14%, 0.67% and 2.54%, respectively, which were moderately deficient, while their parents were normal (parents were 96.01%, 99.05% and 96.58%, respectively; The parents were 91.12%, 92.98%, 81.43% respectively). The ITGB2 gene analysis showed a homozygous missense mutation c.1768T> C (p.C590R) in exon 13, with both parents being heterozygous for the same locus. Conclusion Repeated severe skin mucosa and soft tissue infections, especially associated with omphalitis, delayed wound healing, repeated gingivitis with deciduous teeth early off, significantly increased the total number of leukocytes, neutrophils, with elevated immunoglobulin in children need Be alert to LAD-1. Flow cytometry to detect CD18 molecules on the surface of white blood cells can rapidly diagnose LAD-1, and ITGB2 gene analysis is the gold standard for diagnosis.