【摘要】 目的本研究纳入1例8月龄时发生播散性卡介苗病的女性患儿,旨在探讨IFNGR1缺陷病的临床及分子特征。方法总结1例常染色体显性遗传IFNGR1部分缺陷病患儿临床资料,Q-RT-PCR检测IL-12-IFN-γ轴功能,流式细胞术检测PHA刺激的T细胞表面IFNGR1蛋白表达,Sanger测序法分析IFNGR1基因。结果患儿常规免疫功能无异常。患儿抗凝血经BCG+rhIFN-γ同时刺激后IL-12B的表达水平比单独使用BCG刺激略有增加（P>0.05）,但较健康对照显著降低（P<0.05）;IFNGR1蛋白表达高于健康对照。基因测序发现患儿IFNGR1第6外显子存在c.819₈22del4（p.N274Hfs*2）杂合突变,父母均无此突变。结论常染色体显性遗传IFNGR1基因部分缺陷病极为罕见,易发生播散性分枝杆菌感染,应尽早检测IL-12-IFN-γ轴功能、相关蛋白表达并行基因分析确诊。更多还原

【Abstract】 Interferon-gamma receptor1(IFNGR1) deficiency is a rare autosomal primary immunodeficiency disorder, conferring predisposition to mycobacterial diseases. This study enrolled a female patient who developed disseminated BCG disease diagnosed as autosomal dominant partial IFNGR1 deficiency at 8 months old, and aimed to explore the clinical and molecular features of IFNGR1 deficiency. The function of the IL-12-IFN-γ axis was detected by Q-RT-PCR, and the expression of IFNGR1 protein on T cells surface was measured by flow cytometry.Sanger sequencing was used to analyze the IFNGR1 gene mutation. Data showed that there were no abnormalities for her in routine immune functions. The production of IL-12 B of the patient in response to BCG plus rhIFN-γ was slightly increased compared to stimulation with BCG alone(P>0. 05), but was significantly decreased than healthy control(P<0.05). The expression of IFNGR1 protein on the surface of T cells was higher than that of healthy control.A heterozygous deletion mutation c.819-822 del4(p. N274 Hfs*2) in the exon 6 of IFNGR1 gene was found and her parents were confirmed to be normal. Thus, it is important for physicians to realize that the function of IL-12-IFN-γ-axis, the expression of related proteins and gene mutations should be detected as early as possible in order to confirm the diagnosis of autosomal dominant partial IFNGR1 deficiengcy.更多还原