【摘要】：目的探討1例白細胞黏附分子缺陷�、裥�(LAD-1)患兒的臨床特征和CD18蛋白表達異常及基因突變特征。方法總結(jié)患兒臨床資料,常規(guī)免疫學篩查,流式細胞術(shù)檢測白細胞表面CD18分子,PCR測序分析患兒及其父母ITGB2基因。結(jié)果男性患兒,5歲2月,2個月大時以臍炎起病,之后反復(fù)肺炎、中耳炎、鵝口瘡、牙齦炎伴乳牙早脫。3+歲起反復(fù)皮疹、皮膚感染,傷口愈合延遲�；純喊准毎倲�(shù)顯著增高,以中性粒細胞為主,免疫球蛋白升高。淋巴細胞、中性粒細胞、單核細胞表面CD18分子表達患兒分別為10.14%、0.67%、2.54%,為中度缺陷,而父母表達正常(父分別為96.01%、99.05%、96.58%;母分別為91.12%、92.98%、81.43%)。ITGB2基因分析顯示第13號外顯子出現(xiàn)1個純合錯義突變c.1768TC(p.C590R),其父母均為相同位點雜合突變。結(jié)論反復(fù)嚴重皮膚黏膜及軟組織感染,尤其伴有臍炎、傷口愈合延遲、反復(fù)牙齦炎伴乳牙早脫、白細胞總數(shù)顯著增高、以中性粒細胞為主、伴免疫球蛋白升高的患兒需警惕LAD-1。流式細胞術(shù)檢測白細胞表面CD18分子可快速診斷LAD-1,ITGB2基因分析是診斷的金標準。
[Abstract]:Objective To study the clinical characteristics and the characteristics of CD18 protein expression in 1 (LAD-1) children with leukocyte adhesion molecule deficiency disease. Methods The clinical data, routine immunological screening and flow cytometry were used to detect the CD18 molecules on the surface of leukocytes, and the ITGB2 gene of the children and their parents were analyzed by PCR. Results The patients with male,2-month-old and 2-month-old were infected with umbilicus, followed by repeated pneumonia, otitis media, aphtha, gingivitis with deciduous teeth, and repeated rash, skin infection and wound healing after 3 + years of age. The total number of white blood cells in the children was significantly increased, and the number of neutrophils was the main and the immune globulin was increased. The expression of CD18 in lymphocytes, neutrophils and monocytes was 10.14%, 0.67% and 2.54%, respectively, and the parents were normal (96.01%, 99.05%, 96.58% and 91.12%, 92.98%, 81.43%, respectively). The ITGB2 gene analysis revealed 1 homozygous missense mutation in exon 13, c.1768 TC (p. C590R), both of which were heterozygous mutations at the same site. Conclusion Repeated severe skin and soft tissue infection, especially with umbilicus, delayed wound healing, and repeated gingivitis with deciduous teeth, the total number of white blood cells increased significantly, and the patients with increased immune globulin need to be alert to the LAD-1. The detection of CD18 on the surface of the white blood cell by flow cytometry can be used for the rapid diagnosis of LAD-1 and the analysis of the ITGB2 gene is the gold standard for diagnosis.
【作者單位】： 重慶醫(yī)科大學附屬兒童醫(yī)院兒科研究所臨床免疫研究室;重慶醫(yī)科大學附屬兒童醫(yī)院兒童感染免疫重慶市重點實驗室兒童發(fā)育疾病研究教育部重點實驗室兒科學重慶市重點實驗室重慶市兒童發(fā)育重大疾病診治與預(yù)防國際科技合作基地;
【基金】：重慶市科委社會事業(yè)與民生保障科技創(chuàng)新專項(cstc2015shmszx120028) 2014年國家公益性行業(yè)科研專項(201402012)
【分類號】：R725.9

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