. DEFECTS OF ADAPTIVE IMMUNITY .

Severe Combined Immunodeficiency T-B- panel [8 genes]

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.

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 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

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