DiGeorge syndrome

DiGeorge syndrome is a hereditary disease resulting in an inability to fight infections (immunodeficiency) associated with the absence of the thymus glands, low calcium levels associated with the absence of the parathyroid glands and abnormalities of the heart. Thymus, parathyroid glands and heart derive from the same primitive embryonic structure and that is why these three organs are dysfunctioned together in this disease. Affected patients (usually children) are prone to yeast infections. The disease is related with genetic deletions (loss of a small part of the genetic material) found on the long arm of the 22nd chromosome. Some patients with similar clinical features may have deletions on the short arm of chromosome 10. Although genetic transplantation methods are currently being developed by researchers, there is no genetic treatment of this disease, as yet. Therefore, the treatment is symptomatic, that is calcium is administered, infections are treated with antibiotics, and these patients may occasionally undergo cardiac surgery for their heart abnormalities.

See Chromosome 22, microdeletion 22 q11