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严重联合免疫缺陷的诊断。

Diagnosis of severe combined immunodeficiency.

作者信息

Gennery A R, Cant A J

机构信息

Department of Paediatric Immunology, Newcastle General Hospital, Newcastle upon Tyne, UK.

出版信息

J Clin Pathol. 2001 Mar;54(3):191-5. doi: 10.1136/jcp.54.3.191.

Abstract

Early diagnosis of severe combined immunodeficiency (SCID) is important to enable prompt referral to a supraregional centre for bone marrow transplantation before the occurrence of end organ damage secondary to infective complications. This review outlines clinical, microbiological, and immunopathological clues that aid the diagnosis of SCID and emphasises the multidisciplinary approach needed to diagnose and treat these infants.

摘要

严重联合免疫缺陷(SCID)的早期诊断对于在继发于感染性并发症的终末器官损害发生之前及时转诊至区域外中心进行骨髓移植至关重要。本综述概述了有助于SCID诊断的临床、微生物学和免疫病理学线索,并强调了诊断和治疗这些婴儿所需的多学科方法。

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本文引用的文献

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SCID due to ZAP-70 deficiency.由于ZAP-70缺陷导致的重症联合免疫缺陷病。
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