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目的探讨1例由22q11.2染色体微缺失导致非典型完全型Di George综合征的临床特征及免疫表型。方法收集2014年8月在重庆医科大学附属儿童医院就诊的1例非典型完全型Di George综合征患儿外周血标本,提取外周血单个核细胞(PBMC)及核酸,采用流式细胞术进行T、B细胞亚群检测,羧基荧光双乙酸钠琥珀酰亚胺酯(CFSE)标记法分析T细胞增殖功能,CDR3扫描谱型技术分析T细胞受体(TCR)多样性,定量PCR检测T细胞受体重排剪切环(TREC)含量。结果 T、B细胞亚群分析显示T细胞明显降低,初始T细胞<50个/mm3,总B细胞数量正常,记忆B细胞稍减低;CFSE增殖法提示患儿T细胞无增殖反应;TCR-Vβ亚家族表现为单克隆或寡克隆峰;定量PCR未检测到TREC含量。结论通过临床及免疫学分析,确诊1例非典型完全型Di George综合征患儿。Di George综合征临床与免疫学表型多变,其分型及临床诊断存在困难,常导致漏诊与延迟诊断,因此提高临床工作者对本病的认识对于早期诊断至关重要。
Objective To investigate the clinical features and immunophenotype of atypical complete DiGe syndrome caused by a chromosome deletion in 22q11.2. Methods Peripheral blood samples from 1 pediatric patients with atypical complete DiGe syndrome who were treated in Children’s Hospital of Chongqing Medical University in August 2014 were collected and peripheral blood mononuclear cells (PBMCs) and nucleic acids were extracted. Flow cytometry was performed for T , B lymphocyte subsets, CFSE labeling assay, and T cell receptor (TCR) diversity by CDR3-scan spectral analysis. T cell receptor Body weight excision loop (TREC) content. Results T, B cell subsets analysis showed that T cells were significantly reduced, the initial T cells <50 / mm3, the total number of B cells is normal, memory B cells slightly reduced; CFSE proliferation prompted T cell proliferation in children with no response; TCR-Vβ Subfamilies showed monoclonal or oligoclonal peaks; TREC levels were not detected by quantitative PCR. Conclusions A case of atypical complete DiGe syndrome was confirmed by clinical and immunological analysis. Di George syndrome clinical and immunological phenotypes varied, its classification and clinical diagnosis of difficulties, often leading to missed diagnosis and delayed diagnosis, so to improve clinicians understanding of the disease is essential for early diagnosis.