X-LINKED RECESSIVE PROGRESSIVE COMBINED VARIABLE IMMUNODEFICIENCY (DUNCAN'S DISEASE)
X-LINKED RECESSIVE PROGRESSIVE COMBINED VARIABLE IMMUNODEFICIENCY (DUNCAN'S DISEASE)
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DOI：
10.1016/s0140-6736(75)92004-8
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发表时间：
1975-04
期刊：
影响因子：
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通讯作者：
D. Purtilo;JAMES P. S. Yang;ChristineK. Cassel;R. Harper;S. Stephenson;B. Landing;G. Vawter
中科院分区：
文献类型：
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作者：
D. Purtilo;JAMES P. S. Yang;ChristineK. Cassel;R. Harper;S. Stephenson;B. Landing;G. Vawter
在邓肯家族的18个男孩中，有6个死于淋巴组织增生性疾病。他们表现出一种微妙的，渐进的联合可变免疫缺陷疾病的特点是良性或恶性淋巴细胞增殖，组织细胞增多症，血清免疫球蛋白浓度的变化。传染性单核细胞增多症发生在至少3个堂兄弟的终末事件期间或之前。出现发热、咽炎、淋巴结肿大、肝脾肿大、非典型淋巴细胞增多症和从无丙种球蛋白血症到多克隆高丙种球蛋白血症的范围。尸检时，淋巴结和脾脏中的胸腺和胸腺依赖性区域的淋巴细胞耗竭。由淋巴细胞、浆细胞和组织细胞组成的弥漫性浸润，有些含有红细胞，侵入造血器官、内脏和中枢神经系统。此外，2个同父异母兄弟患有回肠和中枢神经系统淋巴瘤。大约一半的男孩，包括同父异母的兄弟，受到影响，女孩幸免，这意味着性连锁隐性遗传。各种淋巴组织细胞病与邓肯病相似，但在遗传方式或组织学特征上与之不同。这项研究表明，爱泼斯坦-巴尔病毒或其他病毒引发了淋巴细胞的致命性增殖，T细胞功能的进行性损耗允许不受控制的淋巴细胞增殖。
Of 18 boys in the Duncan kindred, 6 died of a lymphoproliferative disease. They exhibited a subtle, progressive combined variable immunodeficiency disease characterised by benign or malignant proliferation of lymphocytes, histiocytosis, and alterations in concentrations of serum-immunoglobulins. Infectious mononucleosis occurred during or preceding terminal events in at least 3 of the cousins. Fever, pharyngitis, lymphadenomegaly, hepatosplenomegaly, atypical lymphocytosis, and a spectrum ranging from agammaglobulinæmia to polyclonal hypergammaglobulinæmia occurred. At necropsy, the thymus glands and thymic-dependent areas in the lymph-nodes and spleen were depleted of lymphocytes. Diffuse infiltrates composed of lymphocytes, plasma cells, and histiocytes, some containing erythrocytes, invaded the hæmatopoietic organs, viscera, and central nervous system. In addition, 2 half-brothers had lymphomas of the ileum and central nervous system. Approximately half the boys, including the half-brothers, were affected, and girls were spared, implying sex-linked recessive inheritance. Various lymphohistiocytoses resemble Duncan's disease, but it is distinctive from them in the mode of inheritance or by histological characteristics. This study suggests that the Epstein-Barr virus or other viruses triggered the fatal proliferation of lymphocytes and that progressive attrition of T-cell function allowed uncontrolled lymphoproliferation.