. DEFECTS OF ADAPTIVE IMMUNITY .
This form of SCID is caused by genetic defects that result in very low T lymphocyte counts, but normal B lymphocyte levels. However, B lymphocyte function is impaired because these B cells have abnormal receptors for growth factors on their cell surfaces. 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
CD247, CD3D, CD3E, CD3G, CORO1A, FOXN1, IL2RA, IL2RG, IL7R, JAK3, PTPRC