Finlay J L, Shahidi N T, Horowitz S, Borcherding W, Hong R
J Clin Invest. 1982 Sep;70(3):619-26. doi: 10.1172/jci110655.
Congenital hypoplastic anemia (Diamond-Blackfan syndrome) is thought to involve the erythropoietic cell line alone. In this study, the evaluation of lymphocyte function in five patients with this syndrome revealed a number of abnormalities. Peripheral blood T lymphocyte percentages as assessed by monoclonal antibodies were decreased in three patients. T-helper/T-suppressor cell (OKT4:OKT8) ratios were almost unity in four of the five patients. We usually find a ratio of 2:1 in normal populations. Studies of lymphocyte-mediated suppression of lymphoproliferation demonstrated an inability to generate concanavalin A-induced suppressor cells in the same four patients and impaired prostaglandin-mediated suppression in two patients. Co-culture studies revealed a T lymphocyte-mediated suppression of erythropoiesis in a single patient, who also showed suppression of the mixed lymphocyte reaction. The four remaining patients showed no excessive suppressor effects either upon erythropoiesis or lymphoproliferation. These studies demonstrate that in congenital hypoplastic anemia, the cellular defect is not restricted to the erythroid progenitor cells, but extends to the lymphocytes.
先天性再生障碍性贫血（戴蒙德 - 布莱克范综合征）被认为仅累及红细胞生成细胞系。在本研究中，对5例该综合征患者的淋巴细胞功能评估发现了一些异常。通过单克隆抗体评估，3例患者外周血T淋巴细胞百分比降低。5例患者中有4例的辅助性T细胞/抑制性T细胞（OKT4:OKT8）比值几乎为1。而在正常人群中，我们通常发现该比值为2:1。淋巴细胞介导的淋巴细胞增殖抑制研究表明，同样是这4例患者无法产生伴刀豆球蛋白A诱导的抑制细胞，且2例患者的前列腺素介导的抑制作用受损。共培养研究显示，1例患者存在T淋巴细胞介导的红细胞生成抑制，该患者还表现出混合淋巴细胞反应受到抑制。其余4例患者对红细胞生成或淋巴细胞增殖均未表现出过度的抑制作用。这些研究表明，在先天性再生障碍性贫血中，细胞缺陷不仅限于红系祖细胞，还扩展到了淋巴细胞。
