1例白细胞黏附分子缺陷病Ⅰ型的临床及分子特征分析
发布时间：2019-05-21 15:52
【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.1768TC(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。
[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.
【作者单位】： 重庆医科大学附属儿童医院儿科研究所临床免疫研究室;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;
【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)
【分类号】：R725.9
[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.
【作者单位】： 重庆医科大学附属儿童医院儿科研究所临床免疫研究室;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;
【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)
【分类号】：R725.9
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