. DEFECTS OF ADAPTIVE IMMUNITY .

Severe Combined Immunodeficiency (SCID) panel [19 genes]

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.

Clinical features

  • Severe life-threatening infections (viral, fungal, bacterial)
  • Diarrhoea
  • Failure to thrive
  • Autoimmunity
  • Onset: neonatal, infancy

Prevalence

  • 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