Dusi S, Poli G, Berton G, Catalano P, Fornasa C V, Peserico A
Institute of General Pathology, University of Verona, Italy.
Acta Haematol. 1990;84(1):49-56. doi: 10.1159/000205028.
We describe in this paper a female patient affected by chronic granulomatous disease with all the features of the classic X-linked form of the disease and presenting a mild form of the disease, the major clinical manifestation being a granulomatous cheilitis. The capability of the patient's phagocytes to undergo a respiratory burst in response to different stimuli was markedly depressed and only 10% of the patient's neutrophils were able to reduce nitroblue tetrazolium when stimulated with phorbol myristate acetate to an extent similar to normal cells. With this test, the neutrophils of the patient's mother showed a clear mosaicism, only 40% being able to reduce the dye. Activation of NADPH oxidase in cell-free systems showed that the phagocyte defect was at the level of a membrane component. Difference in spectra revealed that the observed membrane defect was due to a lack of cytochrome b558, the terminal component of NADPH oxidase. Incubation for 2 or 24 h of the patient's neutrophils with human recombinant interferon-gamma and granulocyte macrophage colony-stimulating factor did not correct their defective capability to undergo a respiratory burst However, cultivation of the patient's monocytes with interferon-gamma for prolonged times substantially enhanced their capability to produce hydrogen peroxide.
我们在本文中描述了一名患有慢性肉芽肿病的女性患者，其具有经典X连锁型疾病的所有特征，且病情呈轻度形式，主要临床表现为肉芽肿性唇炎。该患者吞噬细胞对不同刺激产生呼吸爆发的能力明显降低，在用佛波酯肉豆蔻酸酯刺激时，只有10%的患者中性粒细胞能够将硝基蓝四氮唑还原到与正常细胞相似的程度。通过这项检测，患者母亲的中性粒细胞显示出明显的嵌合现象，只有40%能够还原染料。无细胞系统中NADPH氧化酶的激活表明，吞噬细胞缺陷发生在膜成分水平。光谱差异显示，观察到的膜缺陷是由于缺乏细胞色素b558，即NADPH氧化酶的末端成分。用重组人干扰素-γ和粒细胞巨噬细胞集落刺激因子孵育患者的中性粒细胞2小时或24小时，并未纠正其呼吸爆发的缺陷能力。然而，用干扰素-γ长时间培养患者的单核细胞，可显著增强其产生过氧化氢的能力。
