DiGeorge syndrome (DGS) is a set of phenotypic abnormalities including T cell-mediated immune deficits, thymic aplasia, congenital hypoparathyroidism, mild facial anomalies, developmental delay, and congenital heart defects. The syndrome was initially described in 1965. Simultaneously, other overlapping syndromes were identified, including velocardiofacial syndrome (VCFS). Ultimately, secondary to an overlap of clinical symptoms, as well as chromosomal investigations of affected families, it was recognized that most individuals with the characteristic features of these and other syndromes have a deletion of 22qll and that these disorders represent a set of related developmental abnormalities categorized under the heading of Chromosome 22qll deletion syndrome.
A congenital aplasia or hypoplasia of the thymus caused by a missing gene on chromosome 22 and subsequent deficiency of competent T lymphocytes and cell-me diated immunity. Also characteristic sire hypoparathyroidism and heart defects.
DiGeorge syndrome is an inherent and hereditary immunodeficiency disorder characterized by the inability of the immune system’s cells to effectively combat infections. This condition manifests from birth and is associated with the absence or underdevelopment of the thymus gland. As the thymus plays a vital role in immune function, its absence can lead to the onset of persistent and severe infections. Children with DiGeorge syndrome are particularly susceptible to opportunistic infections like candidiasis (thrush), and they may exhibit signs of failure to thrive, resulting in restricted growth. Furthermore, the syndrome may also involve heart abnormalities and hypocalcemia, which refers to abnormally low levels of calcium in the blood.
The immunodeficiency associated with DiGeorge syndrome can potentially be treated through thymus tissue transplants or bone marrow transplants. These medical interventions have shown promising results in addressing the underlying immune system dysfunction and improving the condition.