INVITRO T-CELL AND B-CELL REACTIVITY IN CARTILAGE HAIR HYPOPLASIA

  • 1 January 1978
    • journal article
    • research article
    • Vol. 32  (2) , 352-360
Abstract
The in vivo and in vitro parameters of cellular immunity in 10 patients with cartilage hair hypoplasia, CHH, were investigated. All 10 patients displayed a negative skin test to 1 Tu [tuberculin unit] tuberculin, 8 patients did not respond to 10 Tu and 7 not even to 100 Tu. Six patients were skin test-negative to 1:50 oidiomycin; 3 were negative to even 1:10 oidiomycin. The absolute and relative distribution of blood T [thymus-derived] lymphocytes was normal. The absolute distribution of blood B [bone marrow-derived] lymphocytes was slightly decreased in 3 patients, but all patients had normal levels of Ig[immunoglobulin]M, IgG and IgA. Major changes were observed in the proliferative responses of blood leukocytes to mitogens and antigens. Five patients responded suboptimally to phytohemagglutinin (PHA), 2 to concanavalin A [Con A], 3 patients were hyporesponsive to Staphylococcus aureus strain Cowan I bacteria, 6 to tuberculin (PPD) and 6 to oidiomycin. The in vitro responses of 2 patients were entirely normal. Except for 3 patients responding suboptimally to PPD or oidiomycin only, the reduced responses were all confined to the 5 patients responding suboptimally to PHA. The suboptimally responding patients displayed normal dose-response profiles to PHA and Con A. The in vitro hyporeactivity was a persistent phenomenon, as the pattern of PHA and Con A reactivity was essentially similar when the same patients were tested to the same mitogens 5 yr earlier. Except for the skin test hyporeactivity, none of these patients displayed any detectable clinical handicap, suggesting that the Finnish variant of the syndrome is dissimilar from the Amish variant, where the in vitro deficiency to mitogens and antigens is related to susceptibility to severe and often fatal infections, especially to varicella and vaccinia.