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