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以卡氏肺孢子菌肺炎起病的X连锁高IgM综合征婴儿1例 被引量:5

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摘要 高IgM综合征用来描述一组异质性遗传异常,表现为正常或升高的IgM,但IgG、IgA和IgE明显降低,分子机制为B细胞不能通过免疫球蛋白类别转换重组和体细胞高频突变来完成自身的成熟,包括X连锁和常染色体遗传方式,其中X连锁最为常见。本文报道1例基因诊断明确的以卡氏肺孢子菌肺炎(PCP)起病的X连锁高IgM综合征(XHIGM)婴儿,复习文献,探讨二者关系,为更好地诊治此类疾病提供帮助。
出处 《中国实用儿科杂志》 CSCD 北大核心 2013年第8期635-637,共3页 Chinese Journal of Practical Pediatrics
基金 2011年国家临床重点专科项目首都医科大学附属北京儿童医院小儿呼吸专科项目[卫办医政函[2011]873号]
关键词 卡氏肺孢子菌肺炎 高IGM综合征 X-连锁隐性 CD40L(CD154) 婴儿 pneumocystis pneumonia, PCP hyper-IgM syndrome X-linked recessive CD40L(CD 154) infant
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参考文献13

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