A 34-year-old man with partial DiGeorge syndrome suffered from seizure
s and mental retardation from the age of three years. He was diagnosed
as having primary hypoparathyroidism by the Ellsworth-Howard test at
the age of 22. He was also found to have a right aortic arch. Immunolo
gical studies revealed the presence of immature T cells (CD 38+, OKT 9
+), although the subsets and function of his T cells were almost norma
l. The facts that the cardiovascular anomaly and immunodeficiency were
mild and the hypoparathyroidism was well controlled, may account for
his survival to this age.