Partial DiGeorge Syndrome at the Age of Thirty-Four.

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概要

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• 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.(Internal Medicine 33: 418-121, 1994)

• 社団法人　日本内科学会の論文

著者

• Ogihara Toshio

  The Department Of Geriatric Medicine Osaka University Medical School

• KOH Eio

  The Department of Geriatric Medicine, Osaka University Medical School

• HIROTANI Atsushi

  The Department of Geriatric Medicine, Osaka University Medical School

• MORIMOTO Shigeto

  The Department of Geriatric Medicine, Osaka University Medical School

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• Partial DiGeorge Syndrome at the Age of Thirty-Four.

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