IMMUNOLOGICAL INCOMPETENCE IN CARTILAGE-HAIR HYPOPLASIA

Abstract

We have studied the immunological capacity of 23 patients suffering from short-limbed growth failure due to metaphyseal chondrodysplasia associated with normal skull and vertebral column. Most of the patients had hypoplastic hair, but this feature was variable even between affected siblings. Many had recurrent or prolonged infections. Humoral immunity was unaffected as indicated by normal serum immunoglobulin levels, normal number of immunoglobulin containing cells in the intestinal mucosa, normal secretion of immunoglobulin on mucosal surfaces and normal production of antibodies against viruses. Skin reactivity to tuberculin was depressed. The blast transformation of lymphocytes on stimulation with phytohaemagglutinin was below 95% confidence limit of controls in all but one patient. This patient had normal hair. The in vitro response to tuberculin was also absent or siight. However, the percentage of lymphocytes forming non-immune rosettes with sheep red cells was only slightly decreased. This test is considered to quantify the T-lymphocytes. The discrepancy between these findings can be explained by functional deficiency of T-lymphocytes. Otherwise, the tests may measure dif. functions of ”.