Immunodeficiency With Defective Leukocyte And Lymphocyte Function And With Response To Histamine-1 Antagonist

Clinical Features

Jung et al. (1983) identified a familial immunodeficiency disease characterized by recurrent and persistent pyoderma, folliculitis, and atopic dermatitis. An affected father, aged 39 years, and his affected 11-year-old son were studied. The father's father, who had died, was alleged to have had a similar disease in childhood. Abnormalities of lymphocyte function (defective proliferative responses to phytomitogens and subnormal response in immunoglobulin production after stimulation of lymphocytes by pokeweed mitogen) and defective leukocyte chemiluminescence responses were associated with defective intracellular killing of microbial organisms. Chemotaxis was normal. The clinical manifestations and abnormalities of lymphocyte and leukocyte function responded dramatically to treatment with the histamine-1 antagonist, chlorpheniramine, suggesting to the authors a defect in histamine metabolism or abnormality of histamine receptors on lymphocytes and leukocytes. The son had corneal ulcerations; the father had had corneal transplants several times for scarring due to herpetic lesions. Jung et al. (1983) pointed out similarities to families reported by Van Scoy et al. (1975), Jacobs and Norman (1977), and Robinson et al. (1982). Jung et al. (1983) also noted that Mawhinney et al. (1980) had described a patient with hyper-IgE syndrome (147060), recurrent abscesses, and a chemotactic abnormality whose chemotactic defect and clinical disorder improved with treatment with cimetidine, an H2 blocker.