title: Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency.
abstract: 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.
authors.affiliation: Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 50, Rotterdam 3015 GE, The Netherlands. m.vanderburg@erasmusmc.nl
authors.forename: Mirjam
authors.initials: M
authors.lastname: van der Burg
authors.forename: Andy R
authors.initials: AR
authors.lastname: Gennery
mesh_terms: D005434:Flow Cytometry; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000628:therapy; D013601:T-Lymphocytes / Q000502:physiology