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遗传性免疫缺陷病

Genetic immunodeficiency diseases.

作者信息

Abrams Melissa, Paller Amy

机构信息

Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, USA.

出版信息

Adv Dermatol. 2007;23:197-229. doi: 10.1016/j.yadr.2007.08.001.

Abstract

The approach to the patient with genetic immunodeficiency is multidisciplinary, and requires close interaction between the primary care physician, immunologist, and other specialists. Dermatologists may play a key role in both the diagnosis of immunodeficiency based on recurrent infection or specific cutaneous abnormalities and in the management of cutaneous complications. The availability of bone marrow and stem cell transplantation has been life-saving for many affected children. The underlying genetic basis is now known for most forms of immunodeficiency, which has facilitated confirmation of patient diagnosis and prenatal diagnosis. Gene therapy has already been initiated for severe combined immunodeficiency, and will certainly play a growing role in therapy of this group of disorders in the future.

摘要

对患有遗传性免疫缺陷病的患者进行治疗需要多学科协作,并且需要初级保健医生、免疫学家和其他专科医生之间密切配合。皮肤科医生在基于反复感染或特定皮肤异常进行免疫缺陷诊断以及皮肤并发症管理方面可能发挥关键作用。骨髓和干细胞移植挽救了许多患病儿童的生命。目前已知大多数形式免疫缺陷的潜在遗传基础,这有助于确诊患者以及进行产前诊断。严重联合免疫缺陷的基因治疗已经启动,未来肯定会在这类疾病的治疗中发挥越来越重要的作用。

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