论文部分内容阅读
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[1]。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。
High IgM syndrome is used to describe a group of heterogeneous genetic abnormalities, manifested as normal or elevated IgM, but significantly decreased IgG, IgA and IgE, the molecular mechanism for the B cells can not be transformed by immunoglobulin class recombination and somatic high frequency Mutations to complete their own maturation, including X-linked and autosomal genetic patterns, of which the most common X chain [1]. This article reports a case of X-linked high IgM syndrome (XHIGM) infants diagnosed genetically diagnosed as Pneumocystis carinii pneumonia (PCP), reviewed the literature, and explored the relationship between the two, in order to help better the diagnosis and treatment of such diseases .