DiGeorge syndrome
A primary immunodeficiency disorder caused by chromosomal deletion affecting thymic development and T-cell production.
Full Definition
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder resulting from a deletion on chromosome 22. The syndrome affects multiple organ systems but is particularly notable for thymic aplasia or hypoplasia, leading to T-cell immunodeficiency. Clinical features include cardiac defects, distinctive facial features, cleft palate, hypocalcemia, and increased susceptibility to infections. The severity of immunodeficiency varies widely, from complete absence of T-cells to mild T-cell lymphopenia. Management may include thymic transplantation in severe cases.
Usage
Usage note: Named after Angelo DiGeorge; capitalize 'DiGeorge' but not 'syndrome'.
In Context
- "The infant presented with DiGeorge syndrome, confirmed by chromosomal microarray showing 22q11.2 deletion." — Genetic consultation note
- "Cardiac surgery was postponed pending immunological evaluation for suspected DiGeorge syndrome." — Surgical planning document