Iseki M, Anzo M, Yamashita N, Matsuo N
Department of Pediatrics, School of Medicine, Keio University.
Acta Paediatr. 1994 Jul;83(7):780-2. doi: 10.1111/j.1651-2227.1994.tb13140.x.
We describe two siblings with X-linked hyper-IgM immunodeficiency. One patient developed disseminated cryptococcosis. Co-culture of this patient's T cells with normal B cells suppressed IgG and IgA production. The CD40 ligand gene of one patient was examined and contained a nonsense mutation at nucleotide 475. CD40 ligand is a membrane protein which is expressed on activated T cells and induces B-cell proliferation. These results suggest that there is a defect in T- and B-cell interactions in this immunodeficiency syndrome. It is also possible that patients with this syndrome are predisposed to cryptococcal infections.
我们描述了两名患有X连锁高IgM免疫缺陷的兄弟姐妹。其中一名患者发生了播散性隐球菌病。将该患者的T细胞与正常B细胞共培养可抑制IgG和IgA的产生。对其中一名患者的CD40配体基因进行检测，发现其在核苷酸475处存在无义突变。CD40配体是一种膜蛋白，在活化的T细胞上表达并诱导B细胞增殖。这些结果表明，在这种免疫缺陷综合征中，T细胞与B细胞之间的相互作用存在缺陷。患有这种综合征的患者也有可能易患隐球菌感染。
