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One case report on recurrent pneumonia due to DNA ligase Ⅳ deficiency

  

  • Online:2020-06-06 Published:2020-07-03

DNA连接酶4缺乏症致反复肺炎1例报告

  

  1. 南京医科大学附属儿童医院 a 呼吸科; b血液肿瘤科, 江苏  南京  210008

Key words: DNA ligase Ⅳ deficiency, severe combined immunodeficiency disease, recurrent pneumonia, microcephaly, bird-like face

关键词: DNA连接酶4缺乏症, 严重联合免疫缺陷病, 反复肺炎, 小头畸形, 鸟样面容