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Immunodeficiencies > Diagnostic criteria for immunodeficiencies > DiGeorge Syndrome >
DiGeorge Syndrome

Definitive

Male or female patient with reduced numbers of CD3+ T cells (less than 500/mm3) and two of the three following characteristics:

  1. Conotruncal cardiac defect (truncus arteriosus, tetrology of Fallot, interrupted aortic arch or
    aberrant right subclavian)
  2. Hypocalcemia of greater than 3 weeks duration that requires therapy
  3. Deletion of chromosome 22q11.2

Probable

Male or female patient with reduced numbers of CD3+ T cells (less than 1500/mm3) and a deletion of chromosome 22q11.2.

Possible

Male or female patient with reduced numbers of CD3+ T cells (less than 1500/mm3) and at least one of the following:

  1. Cardiac defect
  2. Hypocalcemia of greater than 3 weeks duration that requires therapy
  3. Dysmorphic facies or palatal abnormalities

Spectrum of disease

The majority of patients with DiGeorge syndrome are recognized to have immunodeficiency in the first few months of life when they are being evaluated for cardiac malformations that are highly associated DiGeorge syndrome and/or deletions of chromosome 22q11.2. A few patients present with persistent viral or fungal infections, or with hypocalcemic tetany. The severity of the T cell defect varies greatly. In many patients the immunodeficiency resolves in the first few years of life. Dysmorphic facial features and mental retardation are common. Autoimmune disorders may be seen in older patients.

Further information


Last modified by Jouni Väliaho

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