高IgM综合征发病机制研究进展

Update on the pathogenesis of hyper IgM syndrome

高IgM综合征（hyper IgM syndrome，HIGM）是一组由单基因突变导致免疫球蛋白类别转换重组缺陷，伴或不伴体细胞高频突变缺陷的原发性免疫缺陷病。按其发病机制可分为两大类：CIM0信号传导通路异常导致联合免疫缺陷；B细胞内在缺陷导致单纯的体液免疫缺陷。近年来关于HIGM发病机制有了更为全面深入的认识，该文就HIGM分子学发病机制进行综述。

The hyper immunoglobulin M syndromes （HIGM） are a heterogeneous group of genetic dis-orders resulting in defects of immunoglobulin class switch recombination, with or without defects of somatic hy-permutation. They can be classified as defects of signalling through CD40 causing combined immunodeficiency, or intrinsic defects in B cells of the mechanism of class switch recombination resulting in a pure humoral immu- nodeficiency. This review summarizes the molecular pathogenesis of HIGM.