例1:女(姐),12岁,1974年1月始出现发热、头痛,于12日入院。患儿自婴儿期即易感冒。3岁时已出现运动失调,颊部毛细血管扩张,IgA降低,甲胎蛋白升高,诊断为毛细血管扩张性运动失调综合征(A-T)。检查:贫血貌,肝脾未触及,淋巴结不肿大,步态失调。血沉143mm/小时,γ-球蛋白轻度降低;血象:白细胞2000/mm~3,粒细胞缺乏,异型原始细胞11％,红细胞274万/mm~3,血小板值正常,诊断为粒细胞缺乏症,予抗生素及强地松龙治疗。入院后第7天,中性粒细胞恢复、骨髓检查,有核细胞4万/mm~3,粒系统分化良好,异型淋巴样原始细胞10％;第89天,再次出现白细胞减少及发热,并发肺炎而死亡。患儿于死前的17天行骨髓穿刺,异型淋巴细胞为30％,且大小不一,核染质网纤细,缺乏嗜天 Example 1: Female (sister), 12 years old, January 1974 onset of fever, headache, admission on the 12th. Children from infancy that is easy to catch cold. 3 years of age have been ataxia, telangiectasias, IgA decreased, elevated alpha-fetoprotein, diagnosis of telangiectasia dyskinesia syndrome (A-T). Check: anemia appearance, liver and spleen not touched, lymph nodes are not enlarged, gait disorders. Erythrocyte sedimentation rate 143mm / hour, γ-globulin mildly reduced; blood: white blood cells 2000 / mm ~ 3, agranulocytosis, dysplasia 11%, red blood cells 2740000 / mm ~ 3, platelet value is normal, diagnosis of agranulocytosis , To antibiotics and prednisolone treatment. 7 days after admission, neutrophil recovery, bone marrow examination, nucleated cells 40,000 / mm ~ 3, well differentiated granulocyte system, atypical lymphoid progenitor cells 10%; the first 89 days, again leukopenia and fever, complicated by Pneumonia and death. The children underwent bone marrow aspirates 17 days prior to death, with atypical lymphocytes of 30% in size, slender nuclear network and lack of addiction