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Diagnosis of severe combined immunodeficiency

Department of Paediatric Immunology, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne NE4 6BE, UK

Dr Gennery ARGennery{at}aol.com Early diagnosis of severe combined immunodeficiency (SCID) is important to enable prompt referral to a supraregional centre for bone marrow transplantation before the occurrence of end organ damage secondary to infective complications. This review outlines clinical, microbiological, and immunopathological clues that aid the diagnosis of SCID and emphasises the multidisciplinary approach needed to diagnose and treat these infants.

Key Words: severe combined immunodeficiency • bone marrow transplantation • adenosine deaminase deficiency

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