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Chediak Higashi综合征是一种少见的常染色体隐性遗传性疾病 ,1943年由Beguezcesav首次报告 ,国内郑娟于 1977年报告一家族兄弟俩共患此病后 ,陆续有个案报道。为提高临床医师对该病的认识 ,现综合我院 5例及国内报道的 3 0例共 3 5例 ,对其临床特点
Chediak Higashi syndrome is a rare autosomal recessive disease that was first reported by Beguezcesav in 1943. After reports of a family affiliation by Zheng Juan in 1977 in China, one case after another reported. In order to enhance clinicians’ understanding of the disease, 5 cases in our hospital and 30 cases reported in China are enrolled. The clinical features