An inverted ratio for T-helper/T-suppressor cells, and selective deficiency of cell-mediated immunity, in a girl with cartilage hair hypoplasia.

Clinical and immunological data are presented in a thirteen-year-old girl with cartilage-hair hypoplasia. From early infancy, the girl suffered from recurrent respiratory infections, and at ten years of age she had a severe and protracted attack of varicella. Immunologic investigations revealed very low mitogenic responses to PHA and ConA and an inverted ratio for T-helper/T-suppressor cells. However, antibody-mediated immunity was normal. The results emphasize that selective cell-mediated immune dysfunction, which is most often found in short-limbed dwarfism with cartilage-hair hypoplasia, may be due to increased T-suppressor- as well as decreased T-helper cell activity.