HLA and Cogan's syndrome.
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HLA Antigens↗
Biomedical subjects
L A Del Valle
Publications and source records attributed to L A Del Valle.
The HLA antigens in Cogan's syndrome.
HLA typing of ten patients with well documented Cogan's syndrome failed to support previous reports of an increased incidence of HLA-B17. Although HLA-A9 (Aw24), Bw35, and Cw4 appeared increased in frequency among patients, the small number of cases precluded attaching importance to the significance of these increased frequencies.
Adolescent↗
A specific enzyme defect in gyrate atrophy.
To establish the enzyme defect in gyrate atrophy, we measured the activity of ornithine aminotransferase in phytohemagglutinin stimulated lymphocytes in a patient with gyrate atrophy, her daughter, and three normal controls. The patient's cells had no detectable ornithine aminotransferase activity and the daughter's cells had 44% of control activity. This intermediate value is characteristic of an obligate heterozygote. These results are the first demonstration of an enzyme defect in gyrate atrophy.
Adult↗
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.
Gyrate atrophy of the choroid and retina is an inherited form of chorioretinal degeneration associated with hyperornithinemia. We measured the activity of ornithine aminotransferase (L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) in phytohemagglutinin-stimulated lymphocytes of a patient with gyrate atrophy and her daughter. The patient's cells had no detectable ornithine aminotransferase activity, and the activity in the heterozygote's cells was 44% of normal values. Measurements of [3H]thymidine incorporation and other transformation-affected enzymes verified that the patient's cells were transformed. These results demonstrate an enzyme deficiency in gyrate atrophy.
Adult↗