Melamed I, Cohen A, Roifman C M
Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
Clin Exp Immunol. 1994 Jan;95(1):14-21. doi: 10.1111/j.1365-2249.1994.tb06008.x.
Omenn's syndrome is a fatal, autosomal-recessive combined immune deficiency characterized by several erythematous exfoliative eruptions, lymphadenopathy, hepatosplenomegaly, and elevated eosinophil count. In some of these patients an expansion of CD3+CD4-CD8- double negative (DN) T cell population was observed. We show here that the DN population represents a clonal expansion of T cells which preferentially use V beta 14 in their T cell receptor complex. Using polymerase chain reaction, we show that patient's DN cells express spontaneously high levels of IL-5, thus possibly explaining the abundance of eosinophils in this disorder. The increase of IgE observed in patients with Omenn's syndrome is unlikely to be related to IL-4 production, as IL-4 levels in patient samples were low. However, patient's low expression of interferon-gamma (IFN-gamma), which has been reported to inhibit IgE production, may explain the elevated levels of IgE in this patient. The results thus highlight the importance of the inhibitory effect of IFN-gamma on regulation of IgE production.
奥门氏综合征是一种致命的常染色体隐性联合免疫缺陷病，其特征为多处红斑性剥脱性皮疹、淋巴结病、肝脾肿大以及嗜酸性粒细胞计数升高。在其中一些患者中，观察到CD3⁺CD4⁻CD8⁻双阴性（DN）T细胞群体扩增。我们在此表明，DN群体代表了T细胞的克隆性扩增，这些T细胞在其T细胞受体复合物中优先使用Vβ14。通过聚合酶链反应，我们表明患者的DN细胞自发表达高水平的IL-5，从而可能解释了该疾病中嗜酸性粒细胞的大量存在。在奥门氏综合征患者中观察到的IgE增加不太可能与IL-4产生有关，因为患者样本中的IL-4水平较低。然而，据报道可抑制IgE产生的患者干扰素-γ（IFN-γ）低表达，可能解释了该患者中IgE水平升高的原因。因此，这些结果突出了IFN-γ对IgE产生调节的抑制作用的重要性。
