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Lookup NU author(s): Professor Andrew GenneryORCiD
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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.
Author(s): van der Burg M, Gennery AR
Publication type: Review
Publication status: Published
Journal: European Journal of Pediatrics
Print publication date: 01/05/2011
ISSN (print): 0340-6199
ISSN (electronic): 1432-1076