Miloš Jeseňák, Štefánia Kolejáková, Otília Petrovičová, Peter Bánovčin
Primary immunodeficiencies represent a heterogeneous group of genetically determined defects of immune system.
Severe combined immunodeficiencies (SCID) are one of the most severe forms of primary immunodeficiencies, which
require soon diagnosis and adequate therapeutic approach. Children with various forms of SCID have no abnormal appearance.
The most important signs for the diagnosis of all the molecular forms of SCID are: positive family history, recurrent
bacterial, viral and fungal infections, failure to thrive and chronic diarrhoea, an absent thymic shadow on chest
X-ray and lymphopenia with hypogamaglobulinemia. Hematopoietic stem cell transplantation is currently the unique
available causal therapy for SCID.