Nezelof syndrome

A T cell deficiency that results from the disfunction or underdevelopment of the thymus.

Signs and symptoms

• Decreased total T cell count
• Abnormally low T cell receptor excision circle level
• Failure to thrive
• Recurrent viral infections
• Aplasia of the thymus
• Reduced delayed hypersensitivity
• Recurrent bronchopulmonary infections
• Bronchiectasis
• Emphysema
• Decreased total lymphocyte count

Also known as: Nezelof's syndrome; T-cell immunodeficiency with thymic aplasia; TIDTA; thymic aplasia; thymic dysplasia with normal immunoglobulins