DiGeorge Syndrome

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DiGeorge Syndrome is a genetic disorder caused by the deletion of a small section of chromosome 22. This results in a midline congenital defect including thymic aplasia, or congenital deficiency of a thymus.

Patients may present with a profound immunodeficiency disease, due to the lack of T cells. No other immune cell lineages are affected by the congenital absence of the thymus.

DiGeorge Syndrome is the most common congenital cause of thymic aplasia in humans.

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