Wardlow M L, Hariman F, Criswell B S, South M A, De Fazio S R
Exp Hematol. 1979 Mar;7(3):151-61.
The plasma immunoglobulins of patients with severe combined immunodeficiency were studied by immunoelectrophoresis and, following isolation by affinity chromatography, by SDS-polyacrylamide gel electrophoresis. Immunoglobulins in plasma from the eight patients studied were immunoelectrophoretically abnormal. Although certain of the immunoglobulins in plasma from five patients could not be identified antigenically, all possessed two mu determinant-bearing proteins with abnormally fast electrophoretic mobilities. Molecular analysis of immunoglobulins of three of these patients revealed two mu heavy chains of abnormally low molecular weight which lacked the ability to polymerize into the pentameric structure of IgM. The failure of concanavalin A to precipitate these molecules suggests that they lack the carbohydrate moiety of normal IgM. Using these techniques, we documented the acquisition of normal IgM synthesis by a patient grafted with maternal leukocytes and the partial immunologic development of a child maintained under gnotobiotic conditions. In the latter patient, between the age of 1 and 4 years, an abnormal mu component disappeared from plasma and normal IgM appeared.
采用免疫电泳法对重症联合免疫缺陷患者的血浆免疫球蛋白进行了研究，并在通过亲和层析分离后，采用十二烷基硫酸钠-聚丙烯酰胺凝胶电泳法进行研究。所研究的8例患者血浆中的免疫球蛋白在免疫电泳方面均异常。虽然5例患者血浆中的某些免疫球蛋白无法通过抗原鉴定，但所有患者均有两种带有μ决定簇的蛋白，其电泳迁移率异常快。对其中3例患者的免疫球蛋白进行分子分析发现，有两条分子量异常低的μ重链，它们缺乏聚合成IgM五聚体结构的能力。伴刀豆球蛋白A不能沉淀这些分子，提示它们缺乏正常IgM的碳水化合物部分。运用这些技术，我们记录了1例接受母体白细胞移植患者正常IgM合成的获得情况，以及1例在悉生条件下维持生长的儿童的部分免疫发育情况。在后1例患者中，1至4岁期间，血浆中异常的μ成分消失，正常IgM出现。
