Friedman R, Ackerman M, Mallory G, Weng T R, Fireman P
Am J Dis Child. 1983 Aug;137(8):774-6. doi: 10.1001/archpedi.1983.02140340054015.
A 12-year-old girl had sarcoidlike syndrome and hypogammaglobulinemia. Pancytopenia and hepatosplenomegaly were noted at age 4 years. Histopathologic study showed typical sarcoidlike granulomas. Chronic lung disease, along with recurrent infections, developed. Immunologic studies revealed common variable hypogammaglobulinemia, abnormal cellular immune functions, and decreased C4 levels. An immunoregulatory defect is suggested as the pathogenesis of this immunodeficiency syndrome, with multisystem sarcoidlike granulomas, hypersplenism, pulmonary disease, and abnormal cellular and humoral immunity.
一名12岁女孩患有类肉瘤样综合征和低丙种球蛋白血症。4岁时发现全血细胞减少和肝脾肿大。组织病理学研究显示典型的类肉瘤样肉芽肿。慢性肺部疾病以及反复感染逐渐出现。免疫学研究揭示了常见变异型低丙种球蛋白血症、异常的细胞免疫功能和C4水平降低。提示免疫调节缺陷是这种免疫缺陷综合征的发病机制,伴有多系统类肉瘤样肉芽肿、脾功能亢进、肺部疾病以及异常的细胞和体液免疫。