DiGeorge Syndrome (DGS) is a primary immune deficiency (PIDD) associated with susceptibility to infections due to poor T cell production and function likely due to an abnormal thymus. DGS is caused by abnormal cell and tissue development during fetal growth. In addition to possible immune system problems, there commonly are altered facial characteristics, abnormal gland development and/or defects in organs such as the heart.
While DGS is a lifelong condition, it mostly affects infants and children.
Depending on the severity of the syndrome (partial vs complete), recurrent infections tend to decrease in late childhood and adulthood.
Most cases result from a deletion of chromosome 22q11.2 (the DGS chromosome region). A small number of cases of DGS have defects in another chromosome, notably 10p13.
DiGeorge Syndrome Symptoms
Certain facial features are often seen with DGS:
- Low set ears
- Underdeveloped chin
- Short philtrum (the vertical groove on the upper lip)
- Bulbous nose tip
- Heavy eyelids and/or a small mouth.
- Nasal-sounding speech can occur when a cleft palate is involved
- Short stature, learning difficulties or certain psychiatric disorders are also common.
Based on which organs are affected, other symptoms may include:
- Frequent infections
- Low calcium levels
- Heart defects
DGS is often diagnosed at birth or in infancy based on clinical observation of multiple symptoms with various organs. A genetic test is used to confirm the diagnosis.
Treatment and Management
As the organs and tissues involved and the severity of the abnormalities vary, treatment plans for DGS must be personalized. For instance, mild T cell problems can often be managed with antibiotics and close follow-up. On the other extreme, cases of DGS in which T cell development is severely affected have been successfully treated with bone marrow or thymus transplant. In general, if a T cell defect is found live vaccines should be withheld.
Severe problems involving the heart or facial features may require corrective surgery.
Children with DGS benefit from a multi-specialty approach to treatment, since this disease can be associated with a spectrum of disorders that fall under varying different medical specialties including ENT, immunology, cardiology, genetics and speech therapy.
To learn more about PIDDs visit the Immune Deficiency Foundation website.