Schütt C, Eggers G, Wegener S, Seyfarth M, Peters E, Mach M, Erdmann D
Department of Immunology, Wilhelm Pieck University, Rostock, GDR.
Folia Haematol Int Mag Klin Morphol Blutforsch. 1987;114(3):382-9.
Three boy cousins suffering from x-linked hypogammaglobulinaemia have been described. Their disease is quite different from the classical x-linked hypogammaglobulinaemia. We present data from 15 family members of three families. The three mothers are sisters and 3 boys from 5 are suffering from immunodeficiency. HLA A, B and DR typing and in vitro diagnostics of immune functions of all family members were carried out. In the patients we could demonstrate a well functioning T cell system which seems to be regular for T cell help on PMW driven B cell maturation into cytoplasmic immunoglobulin positive (cIg+) cells of all immunoglobulin classes but we had no evidence for IgG secreting cells in a plaque forming cell (PFC) assay. The registration of spontaneous suppressor phenomena should be taken into account. If patients undergo an gamma-globulin therapy the changed suppressor effects come back to normal values but the secretion defect is unchanged. The three healthy mothers express one identical haplotype (A2 B8 DR3) which we could demonstrate in the three patients but also in one healthy boy.
已描述了三名患有X连锁低丙种球蛋白血症的表兄弟。他们的疾病与经典的X连锁低丙种球蛋白血症有很大不同。我们展示了来自三个家庭的15名家庭成员的数据。这三位母亲是姐妹，5个孩子中有3个男孩患有免疫缺陷。对所有家庭成员进行了HLA A、B和DR分型以及免疫功能的体外诊断。在患者中，我们可以证明T细胞系统功能良好，这似乎对于PMW驱动B细胞成熟为所有免疫球蛋白类别的细胞质免疫球蛋白阳性（cIg+）细胞的T细胞辅助是正常的，但在空斑形成细胞（PFC）试验中，我们没有证据表明存在分泌IgG的细胞。应考虑自发抑制现象的记录。如果患者接受丙种球蛋白治疗，改变的抑制作用会恢复到正常值，但分泌缺陷不变。三位健康母亲表达了一种相同的单倍型（A2 B8 DR3），我们在三名患者以及一名健康男孩中都证实了这一点。
