[重症联合免疫缺陷：一例腺苷脱氨酶缺乏症]

[Severe combined immunodeficiencies: a case of adenosine-deaminase deficit].

作者信息

Macellaro P, Savarino A, Cucchi G, Lazzati A, Zuccotti G V

机构信息

Unità Operativa di Pediatria,Ospedale Civile, Legnano.

出版信息

Pediatr Med Chir. 2004 May-Jun;26(3):191-5.

PMID:16366403

Abstract

Severe combined immunodeficiencies (SCID) are a group of rare genetic disorders characterized by profoundly defective T lymphocyte. We described in a two months old male a case of SCID with ADA deficiency. With this new case report we summarize recent developments in immunodeficiencies therapy, aiming to induce to bear in mind this disorder, despite its rarity, in differential diagnosis of infections, particularly respiratory or gastrointestinal infections.

摘要

重症联合免疫缺陷病（SCID）是一组罕见的遗传性疾病，其特征是T淋巴细胞严重缺陷。我们描述了一名两个月大男性患腺苷脱氨酶（ADA）缺乏型SCID的病例。通过这份新的病例报告，我们总结了免疫缺陷病治疗的最新进展，旨在提醒人们，尽管这种疾病罕见，但在感染尤其是呼吸道或胃肠道感染的鉴别诊断中要考虑到它。