Review

European Journal of Pediatrics

, 170:561

First online:

Open Access This content is freely available online to anyone, anywhere at any time.

Educational paper

The expanding clinical and immunological spectrum of severe combined immunodeficiency
  • Mirjam van der BurgAffiliated withDepartment of Immunology, Erasmus MC, University Medical Center Rotterdam Email author 
  • , Andy R. GenneryAffiliated withDepartment of Pediatric Immunology, Great North Children’s Hospital, Royal Victoria InfirmaryInstitute of Cellular Medicine, Child Health, University of Newcastle upon Tyne

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.

Keywords

Severe combined immunodeficiencies Diagnosis Lymphocytes Therapy Primary immunodeficiencies