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

Lookup NU author(s): Professor Andrew GenneryORCiD

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Abstract

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.

Publication metadata

Author(s): van der Burg M, Gennery AR

Publication type: Review

Publication status: Published

Journal: European Journal of Pediatrics

Year: 2011

Volume: 170

Issue: 5

Pages: 561-571

Print publication date: 01/05/2011

ISSN (print): 0340-6199

ISSN (electronic): 1432-1076

Publisher: SPRINGER

URL: http://dx.doi.org/10.1007/s00431-011-1452-3

DOI: 10.1007/s00431-011-1452-3

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