title: Partial DiGeorge syndrome at the age of thirty-four.
abstract: A 34-year-old man with partial DiGeorge syndrome suffered from seizures 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. Immunological studies revealed the presence of immature T cells (CD 38+, OKT 9+), although the subsets and function of his T cells were almost normal. The facts that the cardiovascular anomaly and immunodeficiency were mild and the hypoparathyroidism was well controlled, may account for his survival to this age.
authors.affiliation: Department of Geriatric Medicine, Osaka University Medical School.
authors.forename: A
authors.initials: A
authors.lastname: Hirotani
authors.forename: S
authors.initials: S
authors.lastname: Morimoto
authors.forename: E
authors.initials: E
authors.lastname: Koh
authors.forename: T
authors.initials: T
authors.lastname: Ogihara
mesh_terms: D000328:Adult; D001013:Aorta, Thoracic / Q000002:abnormalities*; D004062:DiGeorge Syndrome / Q000276:immunology; D006801:Humans; D007011:Hypoparathyroidism; D008297:Male; D013601:T-Lymphocytes / Q000276:immunology