. DEFECTS OF ADAPTIVE IMMUNITY .
SCID represents a group of rare, and potentially lethal, primary immunodeficiencies (PIDs) characterized by a severe defect in both T and B lymphocytes, and in many cases in natural killer (NK) cells, which is caused by mutations in different genes involved in the maturation and function of the T cell, B cell and NK cell lineage.
- Severe life-threatening infections (viral, fungal, bacterial)
- Failure to thrive
- Onset: neonatal, infancy
- 1-9 : 1,000,000
- 40-100 newborns in USA
Service benefits and management
- Differential diagnosis: BLS, agammaglobulinemia
- Genetic counselling
- Hematopoietic stem cell transplantation (HSCT)
- Gene therapy
ADA, AK2, CD247, CD3D, CD3E, CD3G, CORO1A, DCLRE1C, FOXN1, IL2RA, IL2RG, IL7R, JAK3, LIG4, NHEJ1, PRKDC, PTPRC, RAG1, RAG2