DiGeorge syndrome
DiGeorge's Syndrome (Thymic Hypoplasia)
  • Selective T-cell deficiency resulting from failure of development of the 3rd and 4th pharygeal pouches (thymus, parathyroids, C cells of thyroid)
  • No cell-mediated response
  • Tetany (from hypocalcemia)
  • Congenital defects involving the heart & great-vessels
  • May have abnormal appearing mouth, ears & facies
  • NOT GENETIC!  Due to intrauterine damage before the 8th week of gestation
  • Partial DiGeorge's syndrome exists
  • Nezelof's Sydrome: absent thymus but with normal parathyroids
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