2011/04/08 by Mirjam van der Burg, A Gennery · 3 citations
Immunology and Microbiology · Biochemistry, Genetics and Molecular Biology · Medicine · #Immunodeficiency and Autoimmune Disorders #Virus-based gene therapy research #Respiratory viral infections research
paper · pdf · doi:10.1007/s00431-011-1452-3
openalex publication_date 2011/04/08 · openalex created_date 2016/06/24 · openalex updated_date 2026/08/01
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.