DARIER DISEASE - A PARTIALLY IMMUNODEFICIENT STATE

[摘要] Darier''s disease (keratosis follicularis) a dominantly inherited keratinizing disorder of the skin, is associated with the development of severe, progressive viral and bacterial skin infections. The possibility that an inadequacy of the immune system might be responsible for this tendency was investigated. Of 8 patients with Darier''s disease, 7 showed complete anergy to common skin test antigens and their peripheral blood lymphocytes failed to produce the lymphokine, leukocyte inhibitory factor (LIF) in vitro when stimulated with the same antigens. A Darier''s patient and 6 controls showed positivity to at least 1 skin test antigen and produced lymphokine in vitro to the appropriate antigen. All patients had normal leukocyte and differential counts and normal numbers of circulating T and B cells. All 8 patients with Darier''s disease demonstrated no proliferative response to optimal doses of the T cell mitogen concanavalin A while showing normal responses to the T cell stimulating phytohemagglutinin and the T cell dependent B cell stimulant pokeweed mitogen. This suggests a subtle abnormality of the T cells in Darier''s disease and might be a marker for these patients. Serum from 2 patients with Darier''s disease did not suppress the in vitro immunologic activity of lymphocytes from normals. 13-cis-Retinoic acid in dosages adequate to clear their skin disease did not alter the in vivo or in vitro immunologic functions in 3 Darier''s patients, suggesting that the immune dysfunction is not a secondary phenomenon.