DiGeorge syndrome

Last reviewed 01/2018

The DiGeorge syndrome is an example of a selective T-cell deficiency caused by the failure of development of the third and fourth pharyngeal pouches.

These pouches give rise to the following structures:

  • thymus
  • parathyroids
  • aortic arch
  • portions of the lips and ears

Consequently, DiGeorge syndrome may present with as immune deficiency state - usually T cells, but sometimes B cells, and also aberrant calcium metabolism, congential heart disease and abnormal facies.