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

作者: Mirjam van der Burg , Andy R. Gennery

DOI: 10.1007/S00431-011-1452-3

关键词:

摘要: Severe combined immunodeficiency (SCID) is one of the most severe forms primary characterized by absence functional T lymphocytes. It a paediatric emergency, which life-threatening when recognized too late. The clinical presentation varies from classical form SCID through atypical to Omenn syndrome. In addition, there considerable immunological variation, can hamper diagnosis. this educational review, we describe immunopathological background, presentations and diagnostic process SCID, as well therapeutic possibilities.

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