DiGeorge syndrome

European Society for Immunodeficiencies diagnostic criteria[4]European Society for Immunodeficiencies. Clinical Working Party diagnostic criteria for PID: DiGeorge syndrome diagnostic criteria [internet publication]. https://esid.org/Working-Parties/Clinical-Working-Party/Resources/Diagnostic-criteria-for-PID2#Q5

Definitive

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

• Conotruncal cardiac defect (truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, or aberrant right subclavian)

• Hypocalcemia of greater than 3 weeks duration that requires therapy

• Deletion of chromosome 22q11.2

Probable

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

Possible

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

• Cardiac defect

• Hypocalcemia of greater than 3 weeks duration that requires therapy

• Dysmorphic facies or palatal abnormalities