Obel N, Hansen B, Black F T
Department of Medicine and Infectious Diseases, Marselisborg Hospital, University of Aarhus, Denmark.
Clin Genet. 1993 Mar;43(3):146-9. doi: 10.1111/j.1399-0004.1993.tb04440.x.
Lobster-claw deformity of the extremities, clefting of the primary and secondary palate, ectodermal dysplasia, and atresia of the lacrimal system are common features of the ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome). The patients often suffer from repeated infections of eyes, upper respiratory tract and urogenital system. To exclude an immunodeficiency as cause of the infectious predisposition in patients with EEC-syndrome, we screened the immunosystem in four related patients with EEC-syndrome. All patients were found to present normal immunoglobulin production, complement activity, lymphocyte-, and granulocyte function. We conclude that recurrent infections observed in the EEC-syndrome are not caused by an immunological defect, but seem to result solely from anatomical anomalies.
肢体龙虾爪样畸形、原发和继发腭裂、外胚层发育不良以及泪腺系统闭锁是缺指（趾）-外胚层发育不良-腭裂综合征（EEC综合征）的常见特征。患者常反复出现眼部、上呼吸道和泌尿生殖系统感染。为排除免疫缺陷是EEC综合征患者易发生感染的原因，我们对4例相关的EEC综合征患者的免疫系统进行了筛查。所有患者的免疫球蛋白产生、补体活性、淋巴细胞和粒细胞功能均正常。我们得出结论，EEC综合征中观察到的反复感染并非由免疫缺陷引起，而似乎完全是由解剖学异常导致的。
