论文部分内容阅读
患者女性,28岁。父母近亲结婚,其兄头发灰白,5岁时因感染而死亡。患者从小对日光过敏,并反复感染脓疱病,均采取手术切除治疗。体检:神清,智力低下,视力差,头发灰白,颜面及四肢色素沉着,右下肢顽固性溃疡。全身肌无力,感觉运动障碍,小脑运动失调。心肺正常,肝脾及表浅淋巴结不肿大。周围血白细胞4200/μl,中性27%,淋巴70%,中性粒细胞功能检查墨粒吞噬功能及四唑氮蓝(NBT)还原功能(NBT试验26%,LPS活性的NBT 30%)正常。游走功能基本正常,溶链菌杀菌功能降低。免疫学检查NK细胞活性及抗体依赖性细胞介导的细胞毒(ADCC)
Patient female, 28 years old. His parents were married, his brother had gray hair and died of infection at the age of five. Patients with childhood allergies to sunlight, and repeated infection impetigo, are taken surgical resection. Physical examination: Shen Qing, mental retardation, poor eyesight, gray hair, facial and extremities pigmentation, intractable ulcers in the right lower extremity. Myasthenia gravis, sensory dyskinesia, cerebellar dyskinesia. Cardiopulmonary normal, liver and spleen and superficial lymph nodes is not enlarged. Peripheral blood leukocytes 4200 / μl, neutral 27%, lymphatic 70%, neutrophil function check ink phagocytosis and tetrazolium blue (NBT) reduction function (NBT test 26%, LPS activity NBT 30%) normal . Swimming function basically normal, Streptokotobacterium bactericidal function is reduced. Immunological examination of NK cell activity and antibody-dependent cell-mediated cytotoxicity (ADCC)