Brestel E P, Klingberg W G, Veltri R W, Dorn J S
Am J Dis Child. 1982 Sep;136(9):774-6. doi: 10.1001/archpedi.1982.03970450016003.
A patient had recurrent pyogenic infections, chronic mucocutaneous candidiasis, and repeated long-bone fractures. Her disorder was diagnosed as hyper-IgE syndrome on the basis of clinical data, elevated levels of serum IgE, increased levels of IgE specific for Staphylococcus aureus, and impaired T-lymphocyte function. Roentgenograms confirmed the diagnosis of osteogenesis imperfecta tarda. The estimated likelihood of both conditions occurring in the same person is approximately one in 10 billion. The coincident finding of bone dysplasia in a patient with impaired T-lymphocyte function suggests a common mechanism for birth defects.
一名患者反复发生化脓性感染、慢性黏膜皮肤念珠菌病,并多次发生长骨骨折。根据临床资料、血清IgE水平升高、针对金黄色葡萄球菌的IgE水平增加以及T淋巴细胞功能受损,她的疾病被诊断为高IgE综合征。X线片证实了迟发性成骨不全的诊断。两种疾病在同一人身上同时发生的估计可能性约为百亿分之一。在T淋巴细胞功能受损的患者中同时发现骨发育异常提示出生缺陷存在共同机制。