Diagnostic Criteria for DiGeorge Syndrome (DGS)

Definitive diagnosis

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, tetralogy 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 diagnosis

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

Possible diagnosis

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.

Patients with a definitive or probable diagnosis are assumed to have a greater than 98 and 85 percent probability, respectively, that in 20 years they will still have the same diagnosis. Patients with a possible diagnosis are those that have some but not all of the characteristic clinical or laboratory findings of a particular disorder.

 

 

References:

  1. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999 Dec;93(3):190-7. [Medline]

Created: Oct 17, 2007