Problems in Early Establishment of the Diagnosis of Severe Combined Immunodeficiency

Abstract

Severe combined immunodeficiency (SCID) is a heterogeneous group of rare genetic disorders caused by a number of different gene mutations and characterized by impaired humoral and cellular immunity. Affected infants usually present in the first months of life with atypical or recurrent infections.

If left untreated they mostly die by the end of the first year of life.

Keywords

• severe combined immunodeficiency
• primary immunodeficieny
• infection
• stem cell transplantation