| CD40L基因c.674T>C突变的X连锁高IgM综合征1例报道 |
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| 引用本文： | 张芳敏,韩玫瑰,赵德安,朱小娟,王凌超,黄倩,余雨,韩子明. CD40L基因c.674T>C突变的X连锁高IgM综合征1例报道[J]. 中华实用诊断与治疗杂志, 2020, 0(2): 160-162 |
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| 作者姓名： | 张芳敏 韩玫瑰 赵德安 朱小娟 王凌超 黄倩 余雨 韩子明 |
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| 作者单位： | 新乡医学院第一附属医院儿科 |
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| 基金项目： | 河南省卫生科技创新型人才工程专项经费资助(4165). |
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| 摘 要： | 目的探讨高IgM综合征的特点、临床表现、实验室检查与治疗。方法回顾性分析1例X连锁高IgM综合征患者的临床资料。结果患儿以反复呼吸道感染入院,免疫功能检查提示IgG、IgA明显降低,IgM明显升高;基因检测结果示CD40L基因c.674T>C突变,给予抗感染、定期静脉滴注人免疫球蛋白等治疗。结论高IgM综合征临床表现缺乏特异性,依靠基因检测进行诊断;规律人免疫球蛋白替代治疗可能会提高患儿生存质量,延长寿命。
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| 关 键 词： | X连锁 高IGM综合征 CD40L基因 |
X-linked hyper-IgM syndrome with CD40L gene c.674T>C mutation: a case report |
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| ZHANG Fangmin,HAN Meigui,ZHAO De'an,ZHU Xiaojuan,WANG Lingchao,HUANG Qian,YU Yu,HAN Ziming. X-linked hyper-IgM syndrome with CD40L gene c.674T>C mutation: a case report[J]. Journal of Practical Diagnosis and Therapy, 2020, 0(2): 160-162 |
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| Authors: | ZHANG Fangmin HAN Meigui ZHAO De'an ZHU Xiaojuan WANG Lingchao HUANG Qian YU Yu HAN Ziming |
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| Affiliation: | (Department of Pediatrics,the First Affiliated Hospital of Xinjiang Medical University,Xinxiang 453100,China) |
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| Abstract: | Objective To investigate the characteristics, clinical manifestations, laboratory examination and treatment of X-linked hyper-IgM syndrome. Methods The clinical data of one child with X-linked hyper-IgM syndrome was retrospectively analyzed. Results This child was admitted due to repeated respiratory tract infection. The examination of immune function showed a remarkable decrease of IgG and IgA and increases of IgM. The result of genetic test confirmed CD40 L gene c.674 T>C mutation. The child received anti-infection and regular infusion of human immunoglobulin. Conclusion The clinical manifestation of hyper-IgM syndrome lacks of specificity. The diagnosis mainly depends on genetic test. Regular human immunoglobulin replacement therapy may improve the quality of life and prolong the survival time. |
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| Keywords: | X-linked hyper-IgM syndrome CD40L gene |
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