Mayer L, Kwan S P, Thompson C, Ko H S, Chiorazzi N, Waldmann T, Rosen F
N Engl J Med. 1986 Feb 13;314(7):409-13. doi: 10.1056/NEJM198602133140703.
Immunodeficiency with hyperimmunoglobulinemia M is a syndrome characterized by normal to elevated serum levels of IgM and low levels or absence of IgG and IgA. The defect in this syndrome is thought to reside within the B lymphocyte, which may be unable to undergo a "switch" in immunoglobulin class from IgM to IgG or IgA. To address this question more directly, we cultured B cells from nine patients with this syndrome with pokeweed mitogen and either "switch" T cells or normal control T cells. In cultures with normal T cells, only IgM was secreted, whereas in cultures with switch T cells, IgG as well as IgM, or IgM, IgG, and IgA were secreted. Furthermore, analysis of the immunoglobulin heavy-chain genes in these B cells by means of genetic probes of constant and switch regions revealed normal gene patterns. These data suggest that B cells from patients with hyperimmunoglobulinemia M may not be abnormal, as previously proposed, and that, at least in some patients with this syndrome, a defect in switch T cells may be pathogenic.
伴高免疫球蛋白M的免疫缺陷是一种综合征，其特征为血清IgM水平正常或升高，而IgG和IgA水平低下或缺乏。该综合征的缺陷被认为存在于B淋巴细胞内，B淋巴细胞可能无法经历免疫球蛋白类别从IgM到IgG或IgA的“转换”。为了更直接地解决这个问题，我们用商陆有丝分裂原以及“转换”T细胞或正常对照T细胞培养了9例该综合征患者的B细胞。在与正常T细胞共培养时，仅分泌IgM，而在与转换T细胞共培养时，则分泌IgG以及IgM，或IgM、IgG和IgA。此外，通过恒定区和转换区的基因探针分析这些B细胞中的免疫球蛋白重链基因，结果显示基因模式正常。这些数据表明，伴高免疫球蛋白M患者的B细胞可能并不像先前提出的那样异常，而且至少在部分该综合征患者中，转换T细胞缺陷可能具有致病性。
