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Educational paper The expanding clinical and immunological spectrum of severe combined immunodeficiency van der Burg M; Gennery AREur J Pediatr 2011[May]; 170 (5): 561-71Severe 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.|*Severe Combined Immunodeficiency/diagnosis/genetics/immunology/therapy[MESH]|Flow Cytometry[MESH]|Humans[MESH]|Infant, Newborn[MESH]|Mutation[MESH]|T-Lymphocytes/physiology[MESH] |
