1985年作者在北京协和医院期间,发现一兄妹俩从4岁起出现皮肤色素斑,神经性耳聋,10岁左右均有典型Graves病,均治疗不愈。对其三代作有关遗传学调查,父代子代作全面HLA检查,皮肤直接免疫荧光检查,表明本症为迄今国内外未发现报道过的一种复杂遗传免疫缺陷疾病。 In 1985, at the Peking Union Medical College Hospital, the author found that one sibling developed skin pigmentation at the age of 4, with deafness and typical Graves disease at the age of 10, all of whom were treated unhealed. The three generations for its genetics survey, the father offspring to make a comprehensive HLA examination, skin direct immunofluorescence, indicating that the disease so far has not been reported at home and abroad reported a complex genetic immunodeficiency disease.