DiGeorge Syndrome is a primary immunodeficiency disease caused by abnormal migration and development of certain cells and tissues during fetal development. As part of the developmental defect, the thymus gland may be affected and T-lymphocyte production may be impaired, resulting in low T-lymphocyte numbers and frequent infections. DiGeorge syndrome, also called 22q11.2 deletion syndrome, is a disorder caused by a defect in chromosome 22.
Patients with DGS may have any or all of the following abnormalities; Unusual facial appearance, Heart defects, Thymus gland abnormalities, Autoimmunity, Parathyroid gland abnormalities. The diagnosis of DGS is made on the basis of signs and symptoms that are present at birth, or develop soon after birth, along with confirmatory genetic testing. Affected infants may also show signs of low blood calcium levels as a result of hypoparathyroidism.
Therapy for DGS is aimed at correcting the defects in the affected organs or tissues. Treatment of the low calcium and hypoparathyroidism may involve calcium supplementation and replacement of the missing parathyroid hormone. A heart (or cardiac) defect may require medications or corrective surgery to improve the function of the heart. Immunologic care for patients with DGS includes monitoring the overall immune system including the numbers and function of T-lymphocytes.