Educational paper

Mirjam van der Burg, AR Gennery

Research output: Contribution to journalArticleAcademicpeer-review

122 Citations (Scopus)
15 Downloads (Pure)

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.
Original languageUndefined/Unknown
Pages (from-to)561-571
Number of pages11
JournalEuropean Journal of Pediatrics
Volume170
Issue number5
DOIs
Publication statusPublished - 2011

Research programs

  • EMC MM-02-72-03

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