Educational paper The expanding clinical and immunological spectrum of severe combined immunodeficiency
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Mirjam van der Burg & Andy R. Gennery
- چاپ و سال / کشور: 2011
Description
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
Eur J Pediatr (2011) 170:561–571 Received: 14 February 2011 / Accepted: 10 March 2011 / Published online: 9 April 2011
