. DEFECTS OF ADAPTIVE IMMUNITY .
This form of SCID is caused by genetic defects that result in the absence of functional peripheral T and B lymphocytes, resulting in recurrent early onset severe respiratory viral, bacterial or fungal infections, diarrhoea, and failure to thrive. The natural killer lymphocyte compartment may also be affected.
- Severe life-threatening infections (viral, fungal, bacterial)
- Failure to thrive
- Onset: neonatal, infancy
- 1 -9 : 1,000,000
- 40-100 new-borns in USA
Service benefits and management
- Differential diagnosis: BLS, agammaglobulinemia
- Genetic counselling
- Hematopoietic stem cell transplantation (HSCT)
- Gene therapy
ADA, AK2, DCLRE1C, LIG4, NHEJ1, PRKDC, RAG1, RAG2