DiGeorge syndrome

Last reviewed 08/2023

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.