Educational paper: The expanding clinical and immunological spectrum of severe combined immunodeficiency
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.
|Keywords||Diagnosis, Lymphocytes, Primary immunodeficiencies, Severe combined immunodeficiencies, Therapy|
|Persistent URL||dx.doi.org/10.1007/s00431-011-1452-3, hdl.handle.net/1765/25490|
|Journal||European Journal of Pediatrics|
van der Burg, M, & Gennery, A.R. (2011). Educational paper: The expanding clinical and immunological spectrum of severe combined immunodeficiency. European Journal of Pediatrics (Vol. 170, pp. 561–571). doi:10.1007/s00431-011-1452-3