Diagnostic criteria for DiGeorge syndrome

Definitive diagnosis*

Male or female patient with reduced numbers of CD3+ T cells (less than 500/mm³) and 2 of the 3 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 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 1 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% 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.

From 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; 93:190.

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Diagnostic criteria for DiGeorge syndrome