. DEFECTS OF ADAPTIVE IMMUNITY .

Severe Combined Immunodeficiency T- B+ [11 genes]

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.

 

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

CD247, CD3D, CD3E, CD3G, CORO1A, FOXN1, IL2RA, IL2RG, IL7R, JAK3, PTPRC

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