Educational paper: The expanding clinical and immunological spectrum of severe combined immunodeficiency

被引：0
作者：
Van Der Burg M. [1 ]
Gennery A.R. [2 ,3 ]
机构：
[1] Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3015 GE
[2] Department of Pediatric Immunology, Great North Children's Hospital, Royal Victoria Infirmary, Newcastle upon Tyne
[3] Institute of Cellular Medicine, Child Health, University of Newcastle Upon Tyne, Newcastle upon Tyne
来源：
European Journal of Pediatrics | 2011年 / 170卷 / 5期
关键词：
Diagnosis; Lymphocytes; Primary immunodeficiencies; Severe combined immunodeficiencies; Therapy;
D O I：
10.1007/s00431-011-1452-3
中图分类号：
学科分类号：
摘要：
Severe combined immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency characterized by absence of functional T lymphocytes. It is a paediatric emergency, which is life-threatening when recognized too late. The clinical presentation varies from the classical form of SCID through atypical SCID to Omenn syndrome. In addition, there is a considerable immunological variation, which can hamper the diagnosis. In this educational review, we describe the immunopathological background, clinical presentations and diagnostic process of SCID, as well as the therapeutic possibilities. © 2011 The Author(s).
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页码：561 / 571
页数：10
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