Diagnostic criteria – PARTIAL DiGeorge syndrome
Definitive
Reduced CD3+ T cells (less than 500/mm3) during the first three years of life
and one of the following
 Conotruncal cardiac defect and laboratory or clinically manifested hypocalcaemia
 Conotruncal cardiac defect and deletion of chromosome 22q11.2
 Laboratory or clinically manifested hypocalcaemia and deletion of chromosome
22q11.2
 Conotruncal cardiac defect and laboratory or clinically manifested hypocalcaemia and
deletion of chromosome 22q11.2
Probable
Reduced CD3+ T cells (less than 1500/mm3) during the first three years of life
and deletion of chromosome 22q11.2
Possible
Reduced CD3+ T cells (less than 1500/mm3) during the first three years of life
and at least one of the following
 Cardiac defect
 Laboratory or clinically manifested hypocalcaemia
 Dysmorphic facies or palatal abnormalities
Diagnostic criteria – COMPLETE DiGeorge syndrome
Definitive
Reduced/absent CD3+ T cells (less than 50/mm3) and all of the following:



athymia documented as fewer than 50 recent thymic emigrants
(CD3+CD45RA+CD62L+cells/cubic mm) and/or TRECs <100/100 000 T cells
hypoparathyreosis
heart defect