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[联合免疫缺陷]

[Combined immunologic deficiency].

作者信息

Gerritsen E J, van den Berg H, Langlois van den Bergh R L, Schellekens P T, van Tol M J, Dooren L J, Vossen J M

机构信息

Afd. Kindergeneeskunde, Academisch Ziekenhuis, Leiden.

出版信息

Tijdschr Kindergeneeskd. 1988 Oct;56(5):196-205.

PMID:3061069
Abstract

In the last 20 years 32 patients with severe combined immunodeficiency (SCID) were treated at our department. The clinical and immunological findings in these patients are presented. In connection with these patients, the recent WHO classification on combined immunodeficiency diseases and the pathogenesis in several forms of SCID, as far as is known, are discussed. SCID appears to represent a very heterogeneous group of disorders, which is affirmed by the findings in several of our patients. At this moment bone marrow transplantation (BMT) is the only way to cure patients with SCID. Without this treatment the prognosis of these patients is very poor. After BMT complete recovery is achieved for the majority of patients, even in the absence of a genotypically HLA identical donor. Besides the therapeutic aspects of SCID the recent developments with regard to carrier-detection and antenatal diagnosis are briefly discussed.

摘要

在过去20年里,我科共治疗了32例重症联合免疫缺陷病(SCID)患者。本文介绍了这些患者的临床和免疫学表现。结合这些患者,讨论了世界卫生组织(WHO)最近关于联合免疫缺陷病的分类以及目前已知的几种SCID的发病机制。SCID似乎是一组非常异质性的疾病,我们部分患者的研究结果证实了这一点。目前,骨髓移植(BMT)是治愈SCID患者的唯一方法。若不进行这种治疗,这些患者的预后非常差。进行BMT后,大多数患者即使没有基因型上HLA完全相同的供者也能实现完全康复。除了SCID的治疗方面,还简要讨论了携带者检测和产前诊断的最新进展。

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