Clinical features
Clinical features relate closely to the structural defects present in the DiGeorge syndrome:
Thymic hypoplasia:
- low T cell counts
- susceptibility to mycobacteria, viruses and fungi, for example chronic mucocutaneous candidiasis
- compensatory B cell leukocytosis
- peripheral lymphocytes do not respond to polyclonal T cell activators
- organ specific autoimmune disorders
Absent parathyroid glands:
- low PTH levels
- low plasma calcium
- muscle twitching or tetany
- basal ganglia calcification and intellectual retardation
- hypocalcaemic cataract
Congental malformations of the great vessels
Facial abnormalities
Thymic hypoplasia with retention of parathyroid function is termed Nezelof syndrome.
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