IFNGR1基因突变致分枝杆菌易感性疾病2例病例报告

发布时间：2018-02-28 11:49

  本文关键词： 分枝杆菌易感性疾病 IFNGR基因 卡介苗病　出处：《中国循证儿科杂志》2017年04期 　论文类型：期刊论文

【摘要】：目的探讨IFNGR1基因突变致分枝杆菌易感性疾病(MSMD)的临床特征。方法总结2例IFNGR1基因突变MSMD患儿的临床特征,ELISA方法检测干扰素-γ(IFN-γ)释放功能,流式细胞术检测IFNGR1蛋白表达,Sanger测序方法分析IFNGR1基因突变。结果 (1)2例患儿均生后3月龄内出现卡介苗病,以卡介苗接种侧腋下淋巴结肿大为初始表现,并逐渐播散累及肺部、肠道、中枢和骨髓。确诊年龄分别为4岁和6岁。常规免疫功能(淋巴细胞亚群、免疫球蛋白、中性粒细胞呼吸爆发功能和补体)评估未见缺陷。(2)2例患儿的IFN-γ释放能力明显低下、IFNGR1蛋白表达均低于正常。(3)1例存在c.665 GA(p.G219R)纯合突变,其父母均为c.665 GA(p.G219R)杂合突变;1例存在c.665 GA(p.G219R)和c.310 CA(p.A104N)复合杂合突变,分别遗传自患儿母亲[c.665 GA(p.G219R)杂合突变]及父亲[c.310 CA(p.A104N)杂合突变]。其中1例患儿的突变为新发突变,既往无文献报道。(4)2例患儿在确诊前抗痨治疗效果不佳,确诊后加用IFN-γ,卡介苗感染得到控制,未见其他不良反应。结论 IFNGR1基因突变可导致MSMD。卡介苗病患儿常规免疫评估无缺陷时,需考虑该病可能,相关蛋白检测、IFN-γ释放实验和基因分析有助于诊断。IFN-γ治疗有一定疗效。
[Abstract]:Objective to investigate the clinical characteristics of IFNGR1 gene mutation in patients with mycobacterial susceptibility to MSMD. Methods the clinical characteristics of 2 cases of MSMD with IFNGR1 gene mutation were summarized. The release function of IFN- 纬 was detected by Elisa. The expression of IFNGR1 protein was detected by flow cytometry and Sanger sequencing was used to analyze the mutation of IFNGR1 gene. Results BCG disease appeared in 2 cases within 3 months after birth. The initial manifestation was enlarged axillary lymph nodes on the side of BCG inoculation, and the spread of BCG spread to the lungs. Intestinal, central and bone marrow. Diagnosed at 4 and 6 years old respectively. Routine immune function (lymphocyte subsets, immunoglobulin), Neutrophil respiratory burst function and complement) the IFN- 纬 release ability was significantly lower in 2 cases with no defect. The expression of IFNGR1 protein was lower in 2 cases than that in the normal group. There was a homozygous mutation of c. 665 GAp.G219R in 1 case. The parents were both c.665 GAp.G219R) heterozygous mutations. One case had a complex heterozygous mutation of c. 665 GAp.G219Rand c. 310 CAp.A104N, which were inherited from the mother [c. 665 GAp.G219R] and father [c. 310 CAp.A104N], respectively. There was no previous literature report. 2 cases of children with BCG infection were treated with IFN- 纬 before the diagnosis, and the infection of BCG vaccine was controlled by the addition of IFN- 纬 after the diagnosis. No other adverse reactions were observed. Conclusion IFNGR1 gene mutation can lead to no defect in routine immunological evaluation of MSMD.BCG disease, the possibility of this disease should be considered, and the detection of IFN- 纬 release test and gene analysis may be helpful in the diagnosis of .IFN- 纬 therapy.
【作者单位】： 复旦大学附属儿科医院临床免疫科;
【基金】：上海市科学技术委员会西医引导项目:14411965400
【分类号】：R725.9
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本文编号：1547199