腺苷脱氨酶缺乏所致重症联合免疫缺陷
Severe combined immunodeficiency due to adenosine deaminase deficiency.
作者信息
Hussain Waqar, Batool Asma, Ahmed Tahir Aziz, Bashir Muhammad Mukarram
机构信息
Department of Paediatric Medicine, Sheikh Zayed Hospital, Lahore, Pakistan.
出版信息
J Pak Med Assoc. 2012 Mar;62(3):297-9.
Severe Combined Immunodeficiency is the term applied to a group of rare genetic disorders characterised by defective or absent T and B cell functions. Patients usually present in first 6 months of life with respiratory/gastrointestinal tract infections and failure to thrive. Among the various types of severe combined immunodeficiency, enzyme deficiencies are relatively less common. We report the case of a 6 years old girl having severe combined immunodeficiency due to adenosine deaminase deficiency.
重症联合免疫缺陷病是用于描述一组罕见遗传性疾病的术语，其特征为T细胞和B细胞功能缺陷或缺失。患者通常在出生后的前6个月出现呼吸道/胃肠道感染以及生长发育迟缓。在各种类型的重症联合免疫缺陷病中，酶缺乏相对较少见。我们报告了一例因腺苷脱氨酶缺乏导致重症联合免疫缺陷病的6岁女孩的病例。
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