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European Journal of Pediatrics

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Open Access 01-05-2011 | Review

Educational paper

The expanding clinical and immunological spectrum of severe combined immunodeficiency

Authors: Mirjam van der Burg, Andy R. Gennery

Published in: European Journal of Pediatrics | Issue 5/2011

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.

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Title: Educational paper
The expanding clinical and immunological spectrum of severe combined immunodeficiency
Authors: Mirjam van der Burg
Andy R. Gennery
Publication date: 01-05-2011
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 5/2011
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-011-1452-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Educational paper

The expanding clinical and immunological spectrum of severe combined immunodeficiency

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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