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

Eur J Pediatr. 2011 May;170(5):561-71. doi: 10.1007/s00431-011-1452-3. Epub 2011 Apr 9.


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.

Publication types

  • Review

MeSH terms

  • Flow Cytometry
  • Humans
  • Infant, Newborn
  • Mutation
  • Severe Combined Immunodeficiency* / diagnosis
  • Severe Combined Immunodeficiency* / genetics
  • Severe Combined Immunodeficiency* / immunology
  • Severe Combined Immunodeficiency* / therapy
  • T-Lymphocytes / physiology